A major project is helping improve knowledge of the breast and ovarian cancer risks for women with faults in the BRCA1 and BRCA2 genes, British researchers say.
The study is led by a team from Cambridge University, UK. They have has recruited almost 10,000 carriers of mutations in these genes for a prospective cohort study. Participants will be followed over time, in contrast to most other studies of BRCA1 and BRCA2, which include only women who have already developed breast or ovarian cancer.
The research team, led by Dr Antonis Antoniou, hope the study’s findings will enable doctors to provide better advice on treatments and lifestyle changes for women with faults in the BRCA1 and BRCA2 genes.
They have already discovered that, among women carrying a faulty BRCA1 gene, 72% will develop breast cancer and 44% will develop ovarian cancer by the age of 80. For those carrying a faulty BRCA2 gene, 69% will develop breast cancer and 17% will develop ovarian cancer by age 80.
Details of the study have been published in JAMA.
Dr Antoniou says: "We have been able to provide the most precise estimates of age-specific risks to date. These should provide more confidence in the counselling and clinical management of women with faults in the BRCA1 and BRCA2 genes."
Co-author Professor Douglas Easton adds: "The results show clearly and for the first time in a prospective study, that the cancer risks for women with faults in BRCA1 and BRCA2 depend both on the precise mutation and the woman’s family cancer history.
"This will also have practical implications on clinical management decisions, for example on the timing of surgery in order to reduce cancer risk."
Kuchenbaecker, K. B. et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA 20 June 2017; doi: 10.1001/jama.2017.7112

Leave a Reply