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NM_001228.4(CASP8):c.-937_-932del AND Lung cancer, protection against

Germline classification:
protective (1 submission)
Last evaluated:
Mar 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000008204.2

Allele description [Variation Report for NM_001228.4(CASP8):c.-937_-932del]

NM_001228.4(CASP8):c.-937_-932del

Gene:
CASP8:caspase 8 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_001228.4(CASP8):c.-937_-932del
HGVS:
  • NC_000002.12:g.201232809_201232814del
  • NG_007497.1:g.4352_4357del
  • LRG_34:g.4352_4357del
  • NC_000002.11:g.202097532_202097537del
Links:
OMIM: 601763.0004; dbSNP: rs3834129
NCBI 1000 Genomes Browser:
rs3834129

Condition(s)

Name:
Lung cancer, protection against
Identifiers:
MedGen: C1968897

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028411OMIM
no assertion criteria provided
protective
(Mar 1, 2008) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers.

Sun T, Gao Y, Tan W, Ma S, Shi Y, Yao J, Guo Y, Yang M, Zhang X, Zhang Q, Zeng C, Lin D.

Nat Genet. 2007 May;39(5):605-13. Epub 2007 Apr 22.

PubMed [citation]
PMID:
17450141

A promoter polymorphism in the CASP8 gene is not associated with cancer risk.

Haiman CA, Garcia RR, Kolonel LN, Henderson BE, Wu AH, Le Marchand L.

Nat Genet. 2008 Mar;40(3):259-60; author reply 260-1. doi: 10.1038/ng0308-259. No abstract available.

PubMed [citation]
PMID:
18305469

Details of each submission

From OMIM, SCV000028411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Sun et al. (2007) identified a 6-nucleotide insertion/deletion polymorphism in the CASP8 promoter, -652 AGTAAG ins/del (rs3834129), the deletion variant of which was associated with decreased risk of developing lung cancer (211980) in a population of Han Chinese subjects. The -652 6N deletion was also associated with decreased risk of cancer of various other forms including esophageal, gastric, colorectal, cervical, and breast, acting in an allele dose-dependent manner. The frequency of the -652 6N deletion was significantly lower in individuals with lung cancer (P = 4.1 x 10(-5)).

Haiman et al. (2008) did not find an association between this SNP and breast (114480), colorectal (114500), or prostate (176807) cancer among 2,098, 1,139, and 2,825 patients, respectively. The study included patients in Hawaii and California of various ethnic groups.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024