|(G;G)||2||very slightly increased breast cancer risk|
|(G;T)||1.5||very slightly increased breast cancer risk|
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 not specified Hereditary cancer-predisposing syndrome Ductal breast carcinoma Fanconi anemia Hereditary breast and ovarian cancer syndrome Familial cancer of breast|
|CLNDBN||Breast-ovarian cancer, familial 2 not provided not specified Hereditary cancer-predisposing syndrome Ductal breast carcinoma Fanconi anemia Hereditary breast and ovarian cancer syndrome Familial cancer of breast|
|CLNSRC||HGMD OMIM Allelic Variant|
|CLNACC||RCV000112880.1, RCV000009916.7, RCV000034427.1, RCV000120303.6, RCV000130720.3, RCV000207052.1, RCV000260146.1, RCV000320173.2, RCV000468776.1,|
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