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Hereditary cancer-predisposing syndrome

MedGen UID:
14326
•Concept ID:
C0027672
•
Neoplastic Process
Synonyms: Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; PALB2-Related Cancer Susceptibility; Tumor predisposition
SNOMED CT: Hereditary neoplastic syndrome (699346009); Hereditary cancer-predisposing syndrome (699346009)
 
Gene (location): PALB2 (16p12.2)
 
Monarch Initiative: MONDO:0015356
Orphanet: ORPHA140162

Definition

An inherited genetic condition in which members within a family are at an increased risk for the development of benign and/or malignant neoplasms. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary cancer-predisposing syndrome

Professional guidelines

PubMed

Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA
Comput Biol Chem 2019 Jun;80:31-45. Epub 2019 Mar 12 doi: 10.1016/j.compbiolchem.2019.03.004. PMID: 30884445
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article

Recent clinical studies

Etiology

From Genetics to Histomolecular Characterization: An Insight into Colorectal Carcinogenesis in Lynch Syndrome.
Lepore Signorile M, Disciglio V, Di Carlo G, Pisani A, Simone C, Ingravallo G
Int J Mol Sci 2021 Jun 23;22(13) doi: 10.3390/ijms22136767. PMID: 34201893Free PMC Article
Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA
Comput Biol Chem 2019 Jun;80:31-45. Epub 2019 Mar 12 doi: 10.1016/j.compbiolchem.2019.03.004. PMID: 30884445
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article
Challenging pedigrees seen in a hereditary cancer consultation center.
Lynch HT, Tinley ST, Lynch JF, Attard TM
Cancer Genet Cytogenet 2004 Sep;153(2):91-101. doi: 10.1016/j.cancergencyto.2004.01.011. PMID: 15350297

Diagnosis

Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.
Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM
BMC Cancer 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9. PMID: 33827469Free PMC Article
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article
Challenging pedigrees seen in a hereditary cancer consultation center.
Lynch HT, Tinley ST, Lynch JF, Attard TM
Cancer Genet Cytogenet 2004 Sep;153(2):91-101. doi: 10.1016/j.cancergencyto.2004.01.011. PMID: 15350297

Prognosis

Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Mangolini A, Rocca C, Bassi C, Ippolito C, Negrini M, Dell'Atti L, Lanza G, Gafà R, Bianchi N, Pinton P, Aguiari G
Cell Biol Int 2022 Jul;46(7):1047-1061. Epub 2022 Apr 6 doi: 10.1002/cbin.11803. PMID: 35347810Free PMC Article
Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.
Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM
BMC Cancer 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9. PMID: 33827469Free PMC Article
NBN Gene Analysis and it's Impact on Breast Cancer.
Nithya P, ChandraSekar A
J Med Syst 2019 Jul 5;43(8):270. doi: 10.1007/s10916-019-1328-z. PMID: 31278556
Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA
Comput Biol Chem 2019 Jun;80:31-45. Epub 2019 Mar 12 doi: 10.1016/j.compbiolchem.2019.03.004. PMID: 30884445
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article

Clinical prediction guides

Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.
Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM
BMC Cancer 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9. PMID: 33827469Free PMC Article
NBN Gene Analysis and it's Impact on Breast Cancer.
Nithya P, ChandraSekar A
J Med Syst 2019 Jul 5;43(8):270. doi: 10.1007/s10916-019-1328-z. PMID: 31278556
Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA
Comput Biol Chem 2019 Jun;80:31-45. Epub 2019 Mar 12 doi: 10.1016/j.compbiolchem.2019.03.004. PMID: 30884445
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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