International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation

Kelly Metcalfe,Jan Lubinski,Wendy S Meschino,Pal Moller,Louise Bordeleau,Steven A Narod,Ava Kwong,Jeffrey N Weitzel,Leigha Senter,Henry T Lynch,Beth Karlan,Peter Ainsworth,Susan Armel,Tuya Pal,Nadine M Tung,Andrea Eisen,Charis Eng,Ping Sun

doi:10.1038/s41416-019-0446-1

Abstract

BackgroundWomen with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and risk-reduction options in a cohort of BRCA mutation carriers from ten countries over two time periods (1995 to 2008 and 2009 to 2017).MethodsEligible subjects were identified from an international database of female BRCA mutation carriers and included women from 59 centres from ten countries. Subjects completed a questionnaire at the time of genetic testing, which included past use of cancer prevention options and screening tests. Biennial follow-up questionnaires were administered.ResultsSix-thousand two-hundred and twenty-three women were followed for a mean of 7.5 years. The mean age at last follow-up was 52.1 years (27–96 years) and 42.3% of the women had a prior diagnosis of breast cancer. In all, 27.8% had a prophylactic bilateral mastectomy and 64.7% had a BSO. Screening with breast MRI increased from 70% before 2009 to 81% at or after 2009. There were significant differences in uptake of all options by country.ConclusionFor women who received genetic testing more recently, uptake of prophylactic mastectomy and breast MRI is significantly higher than those who received genetic testing more than 10 years ago. However, uptake of both BSO and breast MRI is not optimal, and interventions to increase uptake are needed.

Highlights

Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer
The sensitivity of magnetic resonance imaging (MRI) exceeds that of mammography and MRI screening has been shown to downstage breast cancer,[5,6,7,8,9,10,11,12] and there is some preliminary evidence that MRI combined with annual mammography may offer a survival advantage in BRCA2 carriers.[13,14]
We report on uptake of cancer screening and riskreduction options in an expanded cohort of BRCA mutation carriers from ten countries, and estimate the uptake rates among those who received their genetic test before and after our initial report in 2008

Summary

Introduction

Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and risk-reduction options in a cohort of BRCA mutation carriers from ten countries over two time periods (1995 to 2008 and 2009 to 2017). CONCLUSION: For women who received genetic testing more recently, uptake of prophylactic mastectomy and breast MRI is significantly higher than those who received genetic testing more than 10 years ago. Uptake of both BSO and breast MRI is not optimal, and interventions to increase uptake are needed. The National Comprehensive Cancer Network (NCCN) guidelines state that women with a BRCA mutation should receive annual breast MRI and should have bilateral salpingo-oophorectomy (BSO) by the age of 40 years,[2] BSO has been shown to reduce ovarian cancer incidence and all-cause mortality.[3,4] Breast screening using magnetic resonance imaging (MRI) is recommended for BRCA mutation carriers. The sensitivity of MRI exceeds that of mammography and MRI screening has been shown to downstage breast cancer,[5,6,7,8,9,10,11,12] and there is some preliminary evidence that MRI combined with annual mammography may offer a survival advantage in BRCA2 carriers.[13,14] Another option for women with a BRCA mutation is bilateral prophylactic mastectomy, which has been shown to significantly reduce breast cancer incidence in women with a BRCA mutation,[15,16,17,18,19] but studies of prophylactic mastectomy reducing mortality are forthcoming

Methods

Results

Conclusion