Breast cancer management decisions in women with a VUS in BRCA1/2
Research type
Research Study
Full title
Exploration of breast cancer and ovarian cancer risk management decisions made by women who are carriers of a variant of uncertain significance in a BRCA1 or BRCA2 gene.
IRAS ID
243071
Contact name
Mark Longmuir
Contact email
Sponsor organisation
NHS Greater Glasgow and Clyde
Duration of Study in the UK
0 years, 4 months, 1 days
Research summary
Pathogenic mutations in the BRCA1 and BRCA2 genes predispose women to breast cancer and ovarian cancer. If a pathogenic mutation is identified in a patient by genetic testing, then options can be put in place to manage the risks of breast cancer and ovarian cancer. Breast surveillance by mammography and magnetic resonance imaging (MRI) can be offered to detect cancer earlier, or mastectomy can be offered as prophylactic surgery. There is currently no effective screening that can detect ovarian cancer, but to manage ovarian cancer risk women can opt for prophylactic surgery to remove the ovaries and fallopian tubes, called bilateral salpingo-oophorectomy. However, some women who undergo genetic testing of the BRCA1 or BRCA2 genes receive a result that is known as a variant of uncertain significance (VUS). This means that a variant has been found in the gene, but it has not yet been scientifically established whether this variant is benign or pathogenic. Therefore, the breast cancer and ovarian cancer risk to these women remains uncertain. This may make decisions about cancer risk management difficult.
The study will use structured interviews with around 20 women that have received VUS result after genetic testing of BRCA1 and BRCA2 genes to explore the decision-making process regarding breast and ovarian cancer risk management options given the uncertain cancer risks. The women interviewed in the study will have been under the age of 50 when they received the VUS result and this is because NHS breast screening begins at age 50 and the study would like to explore management decisions with those who do not already get breast screening.
If factors that make deciding on cancer risk management options difficult are known, then suggestions can be made to improve genetic counselling of patients that receive a BRCA1/2 VUS result to help with these difficult decisions.
REC name
West of Scotland REC 4
REC reference
18/WS/0103
Date of REC Opinion
3 Jul 2018
REC opinion
Further Information Favourable Opinion