BRCA gene linked with early menopause

February 14, 2013

A registry-based study by researchers at UC San Francisco (UCSF) has shown an association between BRCA1/2 mutations and early menopause. The findings, published in Cancer, suggest that women who carry the genetic defect may be at risk of earlier infertility.

A registry-based study by researchers at UC San Francisco (UCSF) has shown an association between BRCA1/2 mutations and early menopause. The findings, published in Cancer, suggest that women who carry the genetic defect may be at risk of earlier infertility.

The new report builds on a previous study that showed an association between BRCA1 mutation and occult primary ovarian insufficiency. The UCSF study included data on 382 white carriers of the BRCA1/2 gene from the institution’s Breast Cancer Risk Program Registry and 765 white women from northern California not represented in the registry.

See also: Ooporectomy cuts risk of cancer in BRCA 1/2 carriers

The 2 groups were compared based on median age at time of natural menopause before and after adjustment for known risk factors.  The role of smoking in each group also was examined, using the Kaplan-Meier approach for unadjusted analyses and Cox proportional hazards regression analyses for adjusted analyses.

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Median age at time of natural menopause was 50 years in the BRCA1/2 carriers, versus 53 years in those who were not carriers (P<.001). The unadjusted hazard ratio for natural menopause for BRCA1/2 carriers versus unaffected women was 4.06 (95% confidence interval [CI], 3.03-5.45) and 3.98 (95% CI, 2.87-5.53) after adjustment for smoking, parity, and use of oral contraceptives. In BRCA1/2 carriers, median age at natural menopause was 46 years for current heavy smokers (≥20 cigarettes/day) versus 49 years for nonsmokers (P=.027).

The study authors noted that data on the age of natural menopause in BRCA1/2 carriers are limited because risk-reducing surgery often is recommended for these women after they complete childbearing and that further study is needed on fertility in such patients.