BRCA 1 and 2 mutation status: the elephant in the room during oncofertility counseling for young breast cancer patients

The impact of BRCA1 or BRCA2 germ-line mutation on women fertility and reproductive outcome has been debated for some years. The biological rationale behind this is that BRCA1/2 play critical roles in homologous repair of DNA double-strand breaks (DSB) and that DNA DSB repair is essential in maintaining ovarian reserve. Animal studies have confirmed that impairment in DNA DSB repair results in accelerated loss of primordial ovarian follicles and that a decline of function of BRCA1 is associated with ovarian ageing [1, 2].

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