Abstract
BRCA1 and BRCA2 genes belong to the family of ataxia-telangiectasia-mutated (ATM)-mediated DNA DSB repair genes that play a critical role in the DNA double-strand break (DSB) repair. Mutations in BRCA genes significantly increase the lifetime risk of breast, ovarian, fallopian tube and primary peritoneal cancers. In addition to the increased risk for multiple malignancies, recent literature suggest that mutations in BRCA genes could lead to decreased ovarian reserve and subsequent ovarian aging. In this review, we will focus on role of BRCA1 and BRCA2 in ovarian function, particularly ovarian aging and primary ovarian insufficiency. Serum AMH values are generally lower in BRCA1 mutation carriers but not in BRCA2 mutation carriers. BRCA2 carriers were more likely to have chemotherapy-induced amenorrhea DNA not stable, linking with ovarian aging. The mechanism by which BRCAs mutation in the pathogenesis of POI is the inpaired function of repairing DNA breaks. Future studies investigating the knockout models to elucidate the role of the BRCAs genes in ovarian development and oocyte maturation will be interesting.
Highlights
BRCA1 was first identified as a specific gene for earlyonset breast cancer and ovarian cancer susceptibility by using positional cloning methods in 1994 (Miki et al 1994; Futreal et al 1994)
BRCA1 and BRCA2 genes belong to the family of ataxia-telangiectasia-mutated (ATM)-mediated DNA DSB repair genes that play a critical role in the DNA double-strand break (DSB) repair
Serum AMH values are generally lower in BRCA1 mutation carriers but not in BRCA2 mutation carriers
Summary
BRCA1 was first identified as a specific gene for earlyonset breast cancer and ovarian cancer susceptibility by using positional cloning methods in 1994 (Miki et al 1994; Futreal et al 1994). BRCA proteins have been proved to participate in a multitude of key cellular functions Both genes can contribute to the repair of DNA and transcriptional regulation of down signals in response to DNA damage (Yoshida and Miki 2004). BRCA proteins can transcriptionally regulate several potential genes functioned in DNA repairing, the cell cycles, the proliferation as well as the apoptosis (Yoshida and Miki 2004). An increasing number of studies show a linkage of mutation of BRCA1 and BRCA2 with breast cancer and ovarian cancer (Yoshida and Miki 2004). Mutation of BRCA1 and BRCA2 can lead into a decline in the number of primordial oocyte in women with childbearing age, which further cause the occurrence of POI. We mainly focus on role of BRCA1 and BRCA2 in POI
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