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Low- and Moderate-Penetrance Genes Associated With Breast and / or Ovarian Cancer

    Table 9. High-probability Ovarian Cancer Susceptibility Loci Identified Through Genome-Wide Association Studies continued...

    More limited data are available regarding ovarian cancer risk. Three GWAS involving staged analysis of over 10,000 cases and 13,000 controls have been carried out for ovarian cancer.[131,132,134] The seven loci that reached genome-wide significance are shown in Table 9. As in other GWAS, the ORs are modest, generally about 1.2 or weaker, but implicate a number of genes with plausible biological ties to ovarian cancer, such as BABAM1, whose protein complexes with and may regulate BRCA1, and TIRAPR, which codes for a poly (ADP-ribose) polymerase (PARP), molecules that may be important in BRCA1/BRCA2-deficient cells.

    In addition to genome-wide studies interrogating common genetic variants, sequencing-based studies involving whole-genome or whole-exome sequencing [141] are also identifying genes associated with breast cancer, such as XRCC2, a rare, moderate-penetrance, breast cancer susceptibility gene.[142]


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