Abstract

Breast cancer susceptibility gene (BRCA)1 and BRCA2 are menbers of the ATM-mediated DNA damage signalling pathway which are integral in the repair of DNA double strand breaks through homologous recombination. BRCA germline mutations substantially increase the risk of breast and ovarian cancer. But the non-cancer-related implications still remain less-known. A number of studies suggest that ovarian reserve may be reduced in BRCA mutation carriers. If the causal relationship between BRCA mutations and diminished ovarian reserve (DOR) is confirmed, it helps not only to recover the mechanism of ovarian aging but also the early diagnosis for premature ovarian failure (POF). Here is to make a review of the reseach status of BRCA germline mutation and diminished ovarian reserve. Key words: Breast cancer susceptibility gene (BRCA); Diminished ovarian reserve (DOR); Oocyte aging; DNA damage repair; Anti-Mullerian homone (AMH); Premature ovarian failure (POF)

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