Penetrance of Breast and Ovarian Cancer in Women Who Carry a BRCA1/2 Mutation and Do Not Use Risk-Reducing Salpingo-Oophorectomy: An Updated Meta-Analysis

JNCI Cancer Spectrum
Jinbo ChenT R Rebbeck

Abstract

Use of risk-reducing Salpingo-oophorectomy (RRSO) substantially reduces the risk of ovarian and breast cancer for women who carry a BRCA1/2 mutation. It is important to adjust for RRSO use in the estimation of BRCA1/2 penetrance of breast and ovarian cancer. We searched PubMed for penetrance estimates of breast and ovarian cancer from studies that genotyped individual patients and explicitly adjusted for RRSO use by censoring follow-up at the age of RRSO. We meta-analyzed penetrance estimates from 7 identified studies. We implemented the resulting penetrance estimates in a Mendelian risk prediction model as iplemented in the software package BRCAPRO, which we applied to estimate carrier probabilities in 2 BRCA cohorts. Penetrance estimates by age 70 years for breast cancer were 64.6% (95% confidence interval [CI] = 59.5% to 69.4%) for BRCA1 mutation carriers and 61.0% (95% CI = 48.1% to 72.5%) for BRCA2 mutation carriers, and for ovarian cancer they were 48.3% (95% CI = 38.8% to 57.9%) and 20.0% (95% CI = 13.3% to 29.0%), respectively. When integrated into BRCAPRO, our estimates led to good calibration and different estimates of carrier probabilities for some individuals when evaluating the models in 2 cohorts. The report updat...Continue Reading

References

May 25, 2002·The New England Journal of Medicine·Timothy R RebbeckUNKNOWN Prevention and Observation of Surgical End Points Study Group
Oct 25, 2003·Science·Mary-Claire KingUNKNOWN New York Breast Cancer Study Group
Apr 10, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sining Chen, Giovanni Parmigiani
Oct 3, 2007·Annals of Internal Medicine·Giovanni ParmigianiDavid M Euhus
Sep 3, 2010·JAMA : the Journal of the American Medical Association·Susan M DomchekTimothy R Rebbeck
May 1, 2013·Journal of the National Cancer Institute·Nasim MavaddatUNKNOWN EMBRACE
May 16, 2014·Journal of the National Cancer Institute·Tara M FriebelTimothy R Rebbeck
Sep 7, 2014·Proceedings of the National Academy of Sciences of the United States of America·Efrat Gabai-KaparaEphrat Levy-Lahad
Jan 21, 2016·Breast Cancer Research and Treatment·Swati BiswasGiovanni Parmigiani
Jun 21, 2017·JAMA : the Journal of the American Medical Association·Karoline B KuchenbaeckerHåkan Olsson

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