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It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast cancer metastasis.
We have identified additional genetic modifiers of breast cancer risk for mutation carriers among reported breast cancer susceptibility loci.
In this study, we explored mitochondrial haplogroups as potential modifiers of breast cancer risk in women carrying pathogenic BRCA1 or BRCA2 mutations.
Moreover, ongoing GWAS in BRCA1 and BRCA2 mutation carriers [ 44, 52] may also identify further modifiers of breast cancer risk for mutation carriers.
No evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers.
Furthermore, because a common competing metabolic pathway for SULT1A1-mediated sulfation of estrogens is UGT1A1-mediated glucuronidation of E2, we also hypothesized that UGT1A1 alleles might represent modifiers of breast tumor characteristics.
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Exposure to ionizing radiation is a known risk factor for breast cancer and the fertility pattern is a recognized modifier of breast cancer risk.
With regard to breast cancer, PLCG2 has been identified as an irradiation-responsive gene and a potential modifier of breast cancer risk in BRCA2-mutation carriers [ 48].
Several studies have been undertaken to assess the role of the CAG repeat polymorphism as a modifier of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Otherwise, the CYP17 polymorphism was found neither to be an effect modifier of breast cancer risks nor to be associated with stage of disease.
This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
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