Do women with BRCA1 or BRCA2 mutations have reduced ovarian reserve

1537 Background: It is uncertain whether mutations in the DNA repair genes, BRCA1 or BRCA2, result in reduced ovarian reserve. AMH is a surrogate marker of ovarian reserve. This study examined AMH levels of BRCA1 and BRCA2 mutation carriers and their non-carrier blood relatives. Methods: Eligible women were from families segregating BRCA1 or BRCA2 mutations enrolled in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab). Each woman had been tested for the family mutation and had completed an epidemiological questionnaire and provided a blood sample at cohort entry. Women were aged 25-45 years, had no personal history of invasive cancer, had two intact ovaries and were not pregnant or breastfeeding at the time of blood draw. AMH was tested on stored plasma samples using an electrochemiluminescence immunoassay platform. Higher AMH levels are associated with greater ovarian reserve. Associations between AMH level and carrier status were tested by linear regression,...