Journal article
Anti-Müllerian hormone serum concentrations of women with germline BRCA1 or BRCA2 mutations
KA Phillips, IM Collins, RL Milne, SA McLachlan, M Friedlander, M Hickey, C Stern, JL Hopper, R Fisher, G Kannemeyer, S Picken, CD Smith, TW Kelsey, RA Anderson
Human Reproduction | Published : 2016
Abstract
STUDY QUESTION: Do women with BRCA1 or BRCA2 mutations have reduced ovarian reserve, as measured by circulating anti-Müllerian hormone (AMH) concentration? SUMMARY ANSWER: Women with a germline mutation in BRCA1 have reduced ovarian reserve as measured by AMH. WHAT IS KNOWN ALREADY: The DNA repair enzymes encoded by BRCA1 and BRCA2 are implicated in reproductive aging. Circulating AMH is a biomarker of ovarian reserve and hence reproductive lifespan. STUDY DESIGN, SIZE, DURATION: This was a cross-sectional study of AMH concentrations of 693 women at the time of enrolment into the Kathleen Cuningham Foundation Consortium for research in the Familial Breast Cancer (kConFab) cohort study (recru..
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Funding Acknowledgements
kConFab is supported by a grant from the Australian National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. K.-A.P. is an Australian National Breast Cancer Foundation Practitioner Fellow. J.L.H. is a NHMRC Senior Principal Research Fellow. M.H. is a NHMRC Practitioner Fellow. Funding to pay the Open Access publication charges for this article was provided by the corresponding author.