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

• Published in: British journal of cancer Vol. 121; no. 1; pp. 15 - 21
• Main Authors: Metcalfe, Kelly, Eisen, Andrea, Senter, Leigha, Armel, Susan, Bordeleau, Louise, Meschino, Wendy S., Pal, Tuya, Lynch, Henry T., Tung, Nadine M., Kwong, Ava, Ainsworth, Peter, Karlan, Beth, Moller, Pal, Eng, Charis, Weitzel, Jeffrey N., Sun, Ping, Lubinski, Jan, Narod, Steven A.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 02.07.2019; Nature Publishing Group
• Subjects: 692/4028/67/1347; 692/4028/67/2195; Adult; Aged; Aged, 80 and over; Biomedical and Life Sciences; Biomedicine; BRCA1 protein; BRCA2 protein; Breast cancer; Breast Neoplasms - diagnostic imaging; Breast Neoplasms - genetics; Breast Neoplasms - prevention & control; Cancer Research; Cancer screening; Drug Resistance; Epidemiology; Female; Genes, BRCA1; Genes, BRCA2; Genetic screening; Humans; Magnetic Resonance Imaging; Mammography; Mastectomy; Medical screening; Middle Aged; Molecular Medicine; Mutation; Oncology; Ovarian cancer; Risk Reduction Behavior; Salpingo-oophorectomy; Womens health
• ISSN: 0007-0920; 1532-1827; 1532-1827
• DOI: 10.1038/s41416-019-0446-1

Background 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). Methods Eligible 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. Results Six-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. 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. However, uptake of both BSO and breast MRI is not optimal, and interventions to increase uptake are needed.