ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
Variation ID: 17673 Accession: VCV000017673.86
- Type and length
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Microsatellite, 4 bp
- Location
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Cytogenetic: 17q21.31 17: 43091772-43091775 (GRCh38) [ NCBI UCSC ] 17: 41243789-41243792 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Oct 13, 2024 Apr 22, 2016 - HGVS
- ... more HGVS ... less HGVS
- Protein change
- S1253fs, S1206fs, S1141fs, S1205fs, S1212fs, S385fs, S1125fs, S1126fs, S1164fs, S1165fs, S1182fs, S1186fs, S1085fs, S1183fs, S1185fs, S1211fs, S1227fs, S1252fs, S957fs, S1142fs, S1226fs, S1250fs
- Other names
- 3874del4
- 3875_3878delGTCT
- 3875del4
- Canonical SPDI
- NC_000017.11:43091771:AGACAGACA:AGACA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (23) |
reviewed by expert panel
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Apr 22, 2016 | RCV000019242.46 | |
Pathogenic (11) |
criteria provided, multiple submitters, no conflicts
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Jul 31, 2024 | RCV000048314.57 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Sep 6, 2023 | RCV000131810.22 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Jan 28, 2024 | RCV000167859.33 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jun 24, 2024 | RCV000239051.15 | |
Pathogenic (3) |
criteria provided, single submitter
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May 17, 2023 | RCV000735506.13 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV000782127.9 | |
Pathogenic (1) |
no assertion criteria provided
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Dec 1, 2018 | RCV000785410.10 | |
BRCA1-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Mar 6, 2024 | RCV004758594.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Apr 22, 2016)
|
reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000282317.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Apr 08, 2019)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV001365789.1
First in ClinVar: Jul 06, 2020 Last updated: Jul 06, 2020 |
Comment:
The p.Ser12353ArgfsX10 variant in BRCA1 has been reported in >100 individuals with breast and/or ovarian cancer (George 2013, Ghiorzo 2012, Meindl 2002, Pohlreich 2005, Sun … (more)
The p.Ser12353ArgfsX10 variant in BRCA1 has been reported in >100 individuals with breast and/or ovarian cancer (George 2013, Ghiorzo 2012, Meindl 2002, Pohlreich 2005, Sun 2017, Susswein 2015, Zhang 2011, Breast Cancer Information Core (BIC) ). In addition, this variant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar VCV000017673.2). This variant has been identified in 0.004% (5/113572) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1253 and leads to a premature termination codon 10 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in hereditary breast and ovarian cancer syndrome. In summary, this variant meets criteria to be classified as pathogenic for hereditary breast and ovarian cancer in an autosomal dominant manner. ACMG/AMP Criteria applied: PVS1, PS4. (less)
Number of individuals with the variant: 3
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Pathogenic
(Apr 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499716.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
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Pathogenic
(Jan 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002579565.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PVS1, PS4_SUP, PM2_SUP
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Number of individuals with the variant: 3
Sex: female
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325742.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Likely pathogenic
(Nov 24, 2014)
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criteria provided, single submitter
Method: literature only
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Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000220913.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
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Pathogenic
(Dec 06, 2019)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000210046.14
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Truncating … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at a significant frequency in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 21324516, 23621881, 24504028, 27533253, 29310832, 23199084, 31447099, 12947551, 7894491, 23633455, 22711857, 21989927, 27003155, 26779294, 22864640, 25085752, 27356891, 27836010, 27225819, 26843898, 27157322, 27383479, 27062684, 29339979, 28724667, 28423363, 28176296, 30702160, 30720243, 30535581, 31090900, 31159747, 30078507, 30128899, 30103829, 30322717, 26681312, 30093976, 30972954, 31472684, 32388397) (less)
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002009448.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004171323.1
First in ClinVar: Dec 02, 2023 Last updated: Dec 02, 2023 |
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Pathogenic
(Feb 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV004175583.1
First in ClinVar: Dec 17, 2023 Last updated: Dec 17, 2023 |
Comment:
The BRCA1 c.3756_3759delGTCT variant is classified as Pathogenic (PVS1, PM2, PP5_Moderate) This BRCA1 c.3756_3759delGTCT variant is predicted to cause a shift in the reading frame … (more)
The BRCA1 c.3756_3759delGTCT variant is classified as Pathogenic (PVS1, PM2, PP5_Moderate) This BRCA1 c.3756_3759delGTCT variant is predicted to cause a shift in the reading frame at codon 1253, introducing a premature termination codon (PVS1). The variant has been reported in dbSNP (rs80357868) and has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 17673). It has not been reported in HGMD. (less)
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Pathogenic
(Jul 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550989.7
First in ClinVar: Jul 30, 2022 Last updated: Aug 04, 2024 |
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Pathogenic
(Feb 10, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Medical Genetics, Oslo University Hospital
Accession: SCV000564358.1
First in ClinVar: Apr 22, 2017 Last updated: Apr 22, 2017 |
Number of individuals with the variant: 10
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Pathogenic
(Jan 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Genologica Medica
Additional submitter:
Servicio Andaluz de Salud, Hospital Universitario Virgen de la Victoria
Accession: SCV000577928.1
First in ClinVar: Apr 22, 2017 Last updated: Apr 22, 2017 |
Family history: yes
Ethnicity/Population group: Causasians
Geographic origin: Spain
Tissue: Blood
Secondary finding: no
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Pathogenic
(Apr 22, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699069.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: The BRCA1 c.3756_3759delGTCT variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated … (more)
Variant summary: The BRCA1 c.3756_3759delGTCT variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Gln1756fs). Mutation Taster predicts a damaging outcome for this variant. This variant was found in 3/121438 control chromosomes at a frequency of 0.0000247, which does not exceed maximal expected frequency of a pathogenic BRCA1 allele (0.0010005). The variant has been cited in multiple HBOC patients in the literature. In addition, multiple clinical laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant was classified as pathogenic. (less)
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Pathogenic
(Sep 21, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744625.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Nov 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000839892.1
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
Comment:
The c.3756_3759delGTCT (p.Ser1253Argfs*10) frame shift variant is predicted to yield loss of function transcripts/proteins of BRCA1 gene, which is one of mechanisms causing BRCA1 defect … (more)
The c.3756_3759delGTCT (p.Ser1253Argfs*10) frame shift variant is predicted to yield loss of function transcripts/proteins of BRCA1 gene, which is one of mechanisms causing BRCA1 defect related cancers. This variant is extremely rare in general population (4 in 246010 by gnomad) and observed in multiple breast/ovarian cancer patients (PMID:78944991, 12947551, 21324516, 23633455, 24504028). It has been also observed in other clinical labs and reported as pathogenic. Based on the above evidences, we interpret this variant as pathogenic. (less)
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Pathogenic
(Jun 25, 2019)
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criteria provided, single submitter
Method: research
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI_WGS
Accession: SCV000993437.1 First in ClinVar: Sep 23, 2019 Last updated: Sep 23, 2019 |
Number of individuals with the variant: 1
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Pathogenic
(Jan 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary Breast Carcinoma
Affected status: yes
Allele origin:
germline
|
GeneKor MSA
Accession: SCV000296799.3
First in ClinVar: Aug 01, 2016 Last updated: May 04, 2020 |
Comment:
This sequence change deletes 4 nucleotide from exon 11 of the BRCA1 mRNA (c.3756_3759delGTCT), causing a frameshift after codon 1253 and the creation of a … (more)
This sequence change deletes 4 nucleotide from exon 11 of the BRCA1 mRNA (c.3756_3759delGTCT), causing a frameshift after codon 1253 and the creation of a premature translation stop signal 10 amino acid residues later- p.(Ser1253Argfs*10). This is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This variant has been reported in the literature in individuals with inherited breast and/or ovarian cancer, and prostate cancer (PMID: 7894491, 21324516). This variant is also as 3875del4 in the literature.This mutation has been described in the mutation database ClinVar (Variation ID:17673). (less)
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Pathogenic
(May 03, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
unknown
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV001251951.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
|
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Pathogenic
(May 03, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: yes
Allele origin:
unknown
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV001251937.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
|
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
|
not provided
(Autosomal unknown)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446820.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Breast carcinoma (present)
Sex: female
|
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Pathogenic
(Oct 17, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450000.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 2
|
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Pathogenic
(Jun 13, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001716303.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Comment:
PVS1, PS4_Mod, PP5
Number of individuals with the variant: 1
|
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Pathogenic
(May 09, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001429279.2
First in ClinVar: Aug 17, 2020 Last updated: Jun 24, 2022 |
Comment:
_x000D_ Criteria applied: PVS1, PS4
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Pathogenic
(Oct 18, 2021)
|
criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538243.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA1 c.3756_3759delGTCT (p.S1253Rfs*10) variant has been reported in heterozygosity in multiple individuals with breast and/or ovarian cancer (PMID: 33287145, 29339979, 32388397, 29310832, 7894491), among … (more)
The BRCA1 c.3756_3759delGTCT (p.S1253Rfs*10) variant has been reported in heterozygosity in multiple individuals with breast and/or ovarian cancer (PMID: 33287145, 29339979, 32388397, 29310832, 7894491), among many other publications in literature. This variant causes a frameshift at amino acid 1253 that results in premature termination 10 amino acids downstream. This variant is expected to result in an absent or non-functional protein product. Loss of function variants in BRCA1 are known to be pathogenic (PMID: 29446198). This variant was observed in 5/113572 chromosomes in the Non-Finnish European population, according to the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID: 17673). Based on the current evidence available, this variant is interpreted as pathogenic. (less)
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Pathogenic
(Jun 08, 2023)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296325.7
First in ClinVar: Jun 24, 2016 Last updated: Jan 06, 2024 |
Comment:
The BRCA1 c.3756_3759del (p.Ser1253Argfs*10) variant has been reported in the published literature in individuals with breast cancer (PMID: 33646313 (2021), 33471991 (2021), 29339979 (2018), 11183185 … (more)
The BRCA1 c.3756_3759del (p.Ser1253Argfs*10) variant has been reported in the published literature in individuals with breast cancer (PMID: 33646313 (2021), 33471991 (2021), 29339979 (2018), 11183185 (2000), 8531967 (1996)), ovarian cancer (PMID: 33287145 (2020), 30078507 (2018), 21324516 (2011)), and pancreatic cancer (PMID: 21989927 (2012)). This variant has also been described as a French founder mutation (PMID: 23199084 (2010)). The frequency of this variant in the general population, 0.000044 (5/113572 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 09, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002021632.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
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Pathogenic
(May 17, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002043441.2
First in ClinVar: Jan 03, 2022 Last updated: Feb 04, 2024 |
|
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Pathogenic
(Sep 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000292139.5
First in ClinVar: Jul 08, 2016 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known … (more)
This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known as 3875_3878delGTCT, 3875del4, 3875delGTCT in the literature based on the BIC nomenclature. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in multiple individuals affected with breast and ovarian cancer (PMID: 16168118, 21324516, 21989927, 22711857, 23633455) and pancreatic cancer (PMID: 21989927), and has been described as a common cause of hereditary breast-ovarian cancer in the French-Canadian population (PMID: 23199084). A breast cancer case-control meta-analysis reported this variant in 15/60466 cases and 2/53461 unaffected individuals with OR=6.633 (95%CI 1.517 to 29.005) (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000278). This variant has been identified in 6/251272 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 28, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076327.16
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Ser1253Argfs*10) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Ser1253Argfs*10) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80357868, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast cancer, ovarian cancer, and/or pancreatic cancer (PMID: 7894491, 21324516, 21989927, 23633455). This variant is also known as 3875del4. ClinVar contains an entry for this variant (Variation ID: 17673). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Dec 11, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004817751.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known … (more)
This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known as 3875_3878delGTCT, 3875del4, 3875delGTCT in the literature based on the BIC nomenclature. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in multiple individuals affected with breast and ovarian cancer (PMID: 16168118, 21324516, 21989927, 22711857, 23633455) and pancreatic cancer (PMID: 21989927), and has been described as a common cause of hereditary breast-ovarian cancer in the French-Canadian population (PMID: 23199084). A breast cancer case-control meta-analysis reported this variant in 15/60466 cases and 2/53461 unaffected individuals with OR=6.633 (95%CI 1.517 to 29.005) (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000278). This variant has been identified in 6/251272 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 5
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Pathogenic
(Apr 11, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000186865.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.3756_3759delGTCT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 3756 to … (more)
The c.3756_3759delGTCT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 3756 to 3759, causing a translational frameshift with a predicted alternate stop codon (p.S1253Rfs*10). This recurrent mutation has been detected in multiple hereditary breast and ovarian cancer (HBOC) syndrome families globally (Castilla LH et al. Nat. Genet. 1994 Dec;8:387-91; Zhang S et al. Gynecol. Oncol. 2011 May;121:353-7; Tedaldi G et al. Oncotarget. 2017 Jul;8:47064-47075; Sun J et al. Clin. Cancer Res. 2017 Oct;23:6113-6119; Heramb C et al. Hered. Cancer Clin. Pract. 2018 Jan;16:3; Bhaskaran SP et al. Int. J. Cancer. 2019 Jan;[Epub ahead of print]). Of note, this alteration is also designated as 3875del4 in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 27, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
Accession: SCV005045962.1
First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024 |
Comment:
PVS1; PM5_PTC_Strong
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Pathogenic
(Mar 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004212771.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(May 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005197241.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
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Pathogenic
(Aug 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001747806.19
First in ClinVar: Jul 10, 2021 Last updated: Oct 08, 2024 |
Comment:
BRCA1: PVS1, PM2
Number of individuals with the variant: 2
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Pathogenic
(Jun 24, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV005368297.1
First in ClinVar: Oct 13, 2024 Last updated: Oct 13, 2024 |
Comment:
Criteria applied: PVS1, PM5_PTC_STR
Clinical Features:
Breast carcinoma (present)
Sex: female
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Pathogenic
(Feb 11, 2015)
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no assertion criteria provided
(clinical testing)
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, Medical University Innsbruck
Study: BRCA-Tyrol
Accession: SCV000212000.1 First in ClinVar: Mar 03, 2015 Last updated: Mar 03, 2015
Comment:
BRCA-mutation spectrum Western Austria
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Number of individuals with the variant: 3
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Pathogenic
(Dec 01, 1994)
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no assertion criteria provided
Method: literature only
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BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000039530.2
First in ClinVar: Apr 04, 2013 Last updated: Apr 22, 2017 |
Comment on evidence:
Castilla et al. (1994) studied 50 probands with a family history of breast and/or ovarian cancer (604370) for germline mutations in the coding region of … (more)
Castilla et al. (1994) studied 50 probands with a family history of breast and/or ovarian cancer (604370) for germline mutations in the coding region of the BRCA1 candidate gene. They identified a 4-bp deletion at position 3875, leading to a premature termination codon at position 1252 and a truncated protein. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001905794.1 First in ClinVar: Sep 23, 2021 Last updated: Sep 23, 2021 |
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Pathogenic
(Mar 06, 2024)
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no assertion criteria provided
Method: clinical testing
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BRCA1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV005363375.1
First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024 |
Comment:
The BRCA1 c.3756_3759delGTCT variant is predicted to result in a frameshift and premature protein termination (p.Ser1253Argfs*10). This variant has been reported in individuals with breast … (more)
The BRCA1 c.3756_3759delGTCT variant is predicted to result in a frameshift and premature protein termination (p.Ser1253Argfs*10). This variant has been reported in individuals with breast and ovarian cancer (Carter et al. 2018. PubMed ID: 30322717, supplementary table 1; Table S1, Chan et al. 2018. PubMed ID: 30093976; George et al. 2013. PubMed ID: 23633455). This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is listed in ClinVar as pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/17673/). Frameshift variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144861.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 61
Observation 2:
Number of individuals with the variant: 2
Geographic origin: Austria
Observation 3:
Number of individuals with the variant: 2
Geographic origin: Netherlands
Observation 4:
Number of individuals with the variant: 5
Geographic origin: Western European
Observation 5:
Number of individuals with the variant: 1
Geographic origin: Western, Eastern Central European
Observation 6:
Number of individuals with the variant: 2
Ethnicity/Population group: African
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Asian
Observation 8:
Number of individuals with the variant: 6
Ethnicity/Population group: Caucasian
Geographic origin: Czech Republic
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Netherlands
Observation 10:
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: English
Observation 11:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 12:
Number of individuals with the variant: 2
Ethnicity/Population group: Central/Eastern European
Observation 13:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European, Latin American
Observation 14:
Number of individuals with the variant: 1
Ethnicity/Population group: English, French, Irish, Scottish, German
Observation 15:
Number of individuals with the variant: 1
Ethnicity/Population group: Irish
Observation 16:
Number of individuals with the variant: 2
Ethnicity/Population group: Italian
Observation 17:
Number of individuals with the variant: 38
Ethnicity/Population group: Western European
Observation 18:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European, Italian
Observation 19:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Norwegian
Observation 20:
Number of individuals with the variant: 1
Ethnicity/Population group: Western Europeanan, Central/Eastern European
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Pathogenic
(Nov 19, 2013)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053723.6
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2016 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
Accession: SCV000484932.1
First in ClinVar: Dec 17, 2016 Last updated: Dec 17, 2016 |
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587342.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733618.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(May 19, 2015)
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no assertion criteria provided
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863644.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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breast cancer
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Accession: SCV000916304.1
First in ClinVar: Jun 09, 2019 Last updated: Jun 09, 2019 |
Comment:
The p.Ser1253ArgfsX10 variant has been identified in 17 out of 6280 proband chromosomes (frequency 0.003) in individuals with breast and ovarian cancer phenotype, but not … (more)
The p.Ser1253ArgfsX10 variant has been identified in 17 out of 6280 proband chromosomes (frequency 0.003) in individuals with breast and ovarian cancer phenotype, but not found in 200 control chromosomes included in these studies (Turner 1999, Langston 1996, Castilla 1994, Zhang 2011, Gaj 2012). It is also listed in dbSNP database presented ?with untested allele? (ID#: rs80357868) while no frequency information is provided; however, this variant has been listed 27X in the UMD and 123X in the BIC database as a clinically significant mutation. The p.Ser1253ArgfsX10 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1253 and leads to a premature stop codon 10 codons downstream. This alteration is then predicted to lead to a truncated or absent BRCA1 protein. Loss of function of the BRCA1 gene is an established disease mechanism in familial breast and ovarian cancer patients. In summary, based on the above information, this variant is classified as pathogenic. (less)
Number of individuals with the variant: 5
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Pathogenic
(Dec 01, 2018)
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no assertion criteria provided
Method: research
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Ovarian neoplasm
Affected status: yes
Allele origin:
germline
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German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000923982.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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Pathogenic
(Jun 11, 2019)
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no assertion criteria provided
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: yes
Allele origin:
germline
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CZECANCA consortium
Accession: SCV001451828.1
First in ClinVar: Dec 26, 2020 Last updated: Dec 26, 2020 |
Number of individuals with the variant: 4
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591471.2 First in ClinVar: Aug 27, 2017 Last updated: Jul 06, 2020 |
Comment:
The p.Ser1253ArgfsX10 variant has been identified in 17 out of 6280 proband chromosomes (frequency 0.003) in individuals with breast and ovarian cancer phenotype, but not … (more)
The p.Ser1253ArgfsX10 variant has been identified in 17 out of 6280 proband chromosomes (frequency 0.003) in individuals with breast and ovarian cancer phenotype, but not found in 200 control chromosomes included in these studies (Turner 1999, Langston 1996, Castilla 1994, Zhang 2011, Gaj 2012). It is also listed in dbSNP database presented “with untested allele” (ID#: rs80357868) while no frequency information is provided; however, this variant has been listed 27X in the UMD and 123X in the BIC database as a clinically significant mutation. The p.Ser1253ArgfsX10 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1253 and leads to a premature stop codon 10 codons downstream. This alteration is then predicted to lead to a truncated or absent BRCA1 protein. Loss of function of the BRCA1 gene is an established disease mechanism in familial breast and ovarian cancer patients. In summary, based on the above information, this variant is classified as pathogenic. (less)
Number of individuals with the variant: 5
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Pathogenic
(-)
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no assertion criteria provided
Method: literature only
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Center for Precision Medicine, Meizhou People's Hospital
Accession: SCV002520869.1
First in ClinVar: Jun 05, 2022 Last updated: Jun 05, 2022 |
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Pathogenic
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004244028.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean. | George SHL | JAMA network open | 2021 | PMID: 33646313 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario. | Lerner-Ellis J | Journal of cancer research and clinical oncology | 2021 | PMID: 32885271 |
Five Italian Families with Two Mutations in BRCA Genes. | Vietri MT | Genes | 2020 | PMID: 33287145 |
Exome sequencing and characterization of 49,960 individuals in the UK Biobank. | Van Hout CV | Nature | 2020 | PMID: 33087929 |
Population genetic screening efficiently identifies carriers of autosomal dominant diseases. | Grzymski JJ | Nature medicine | 2020 | PMID: 32719484 |
Double mutation of APC and BRCA1 in an Italian family. | Vietri MT | Cancer genetics | 2020 | PMID: 32388397 |
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes. | De Talhouet S | Scientific reports | 2020 | PMID: 32341426 |
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. | Gao X | Human mutation | 2020 | PMID: 31825140 |
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals. | Shao D | Cancer science | 2020 | PMID: 31742824 |
Frequency of BRCA1 and BRCA2 Mutations in Individuals with Breast and Ovarian Cancer in a Chinese Hakka Population Using Next-Generation Sequencing. | Wu H | Human heredity | 2019 | PMID: 32101877 |
Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study. | Li W | Journal of ovarian research | 2019 | PMID: 31472684 |
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. | eMERGE Consortium. Electronic address: agibbs@bcm.edu | American journal of human genetics | 2019 | PMID: 31447099 |
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers. | Yost S | JNCI cancer spectrum | 2019 | PMID: 31360904 |
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. | Tsaousis GN | BMC cancer | 2019 | PMID: 31159747 |
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers. | Nones K | Annals of oncology : official journal of the European Society for Medical Oncology | 2019 | PMID: 31090900 |
Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients. | Deng H | Molecular genetics & genomic medicine | 2019 | PMID: 30972954 |
Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world. | Ow SGW | PloS one | 2019 | PMID: 30875412 |
High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering. | Soussi T | Human mutation | 2019 | PMID: 30720243 |
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil. | Cipriano NM Jr | Breast cancer (Tokyo, Japan) | 2019 | PMID: 30535581 |
Germline pathogenic variants identified in women with ovarian tumors. | Carter NJ | Gynecologic oncology | 2018 | PMID: 30322717 |
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. | Chan GHJ | Oncotarget | 2018 | PMID: 30093976 |
BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. | Li A | Gynecologic oncology | 2018 | PMID: 30078507 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. | Heramb C | Hereditary cancer in clinical practice | 2018 | PMID: 29339979 |
Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center. | Apessos A | Cancer genetics | 2018 | PMID: 29310832 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. | Tedaldi G | Oncotarget | 2017 | PMID: 28423363 |
BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. | Shi T | International journal of cancer | 2017 | PMID: 28176296 |
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. | Rebbeck TR | Breast cancer research : BCR | 2016 | PMID: 27836010 |
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. | Azzollini J | European journal of internal medicine | 2016 | PMID: 27062684 |
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. | Wojcik P | Hereditary cancer in clinical practice | 2016 | PMID: 26843898 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. | Pruss D | Breast cancer research and treatment | 2014 | PMID: 25085752 |
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. | Cunningham JM | Scientific reports | 2014 | PMID: 24504028 |
Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. | George J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2013 | PMID: 23633455 |
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. | Kim H | Breast cancer research and treatment | 2012 | PMID: 22798144 |
BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. | Alsop K | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2012 | PMID: 22711857 |
Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. | Ghiorzo P | Familial cancer | 2012 | PMID: 21989927 |
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. | Zhang S | Gynecologic oncology | 2011 | PMID: 21324516 |
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. | Janavičius R | The EPMA journal | 2010 | PMID: 23199084 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
The contribution of founder mutations to early-onset breast cancer in French-Canadian women. | Ghadirian P | Clinical genetics | 2009 | PMID: 19863560 |
Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. | Haffty BG | Annals of oncology : official journal of the European Society for Medical Oncology | 2009 | PMID: 19491284 |
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. | Hall MJ | Cancer | 2009 | PMID: 19241424 |
Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. | Giannini G | Breast cancer research and treatment | 2006 | PMID: 16847550 |
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. | Pohlreich P | Breast cancer research : BCR | 2005 | PMID: 16168118 |
BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. | Foretova L | Human mutation | 2004 | PMID: 15024741 |
[Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients]. | Deng S | Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences | 2003 | PMID: 12947551 |
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. | Perrin-Vidoz L | Human molecular genetics | 2002 | PMID: 12393792 |
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. | Meindl A | International journal of cancer | 2002 | PMID: 11802209 |
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. | Verhoog LC | European journal of cancer (Oxford, England : 1990) | 2001 | PMID: 11597388 |
Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families. | Vaziri SA | Human mutation | 2001 | PMID: 11139249 |
Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history. | Ellis D | Journal of medical genetics | 2000 | PMID: 11183185 |
Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients. | Papelard H | British journal of cancer | 2000 | PMID: 10952774 |
Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. | Wagner T | Genomics | 1999 | PMID: 10644434 |
BRCA1/BRCA2 germline mutations in locally recurrent breast cancer patients after lumpectomy and radiation therapy: implications for breast-conserving management in patients with BRCA1/BRCA2 mutations. | Turner BC | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 1999 | PMID: 10506595 |
The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. | Gayther SA | American journal of human genetics | 1999 | PMID: 10486320 |
BRCA1 mutations in a population-based sample of young women with breast cancer. | Langston AA | The New England journal of medicine | 1996 | PMID: 8531967 |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. | Castilla LH | Nature genetics | 1994 | PMID: 7894491 |
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Text-mined citations for rs80357868 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.