For this particular SNP, the risk (minor) allele is (G), encoding the His; the SNP is also known as N372H or Asn372His.
In a separate study, rs144848(G;G) homozygotes were determined to have a 1.31x increased risk (CI: 1.07-1.61) for breast cancer greater risk compared to (T;T) genotypes. Interestingly, in normal females of all ages there is a significant deficiency of homozygotes compared with that expected from Hardy-Weinberg equilibrium, whereas in males there is an excess of homozygotes (with an estimated fitness of 0.82 in females and 1.38 in males). This implies that rs144848 affects fetal survival in a sex-dependent manner. [PMID 11062481]
- See also Omim 113705.0013
[PMID 19902366] Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study
|Disease||Breast-ovarian cancer, not provided|
|CLNDBN||Breast-ovarian cancer, familial 2, not provided|
|CLNSRC||OMIM Allelic Variant|
[PMID 12466288] Haplotype and linkage disequilibrium architecture for human cancer-associated genes.
[PMID 15113441] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 17428325] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.
[PMID 18086758] Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.
[PMID 18431743] Consortium analysis of 7 candidate SNPs for ovarian cancer.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18579371] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
[PMID 19138047] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 19500380] LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs.
[PMID 19644020] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
[PMID 20003265] Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.
[PMID 22430443] Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.
|qualified_impact||Low clinical importance, Uncertain pathogenic|
|summary||This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.|
[PMID 23964347] Assessment of the Prognostic Value of Two Common Variants of BRCA1 and BRCA2 Genes in Ovarian Cancer Patients Treated with Cisplatin and Paclitaxel: A Gynecologic Oncology Group Study