Choice of management of southern Chinese BRCA mutation carriers

Mutations in the BRCA genes confer greater risk of developing breast, ovarian, and prostate cancer. Families carrying the mutation can have intensive surveillance and take preventative measures. This is the first report on the uptake of such interventions in Chinese mutation carriers residing in Asia.

Breast and ovarian cancer index patients and family members referred for genetic counselling and testing who are found to carry the BRCA mutations were included in this multicenter study.

A total of 31 patients with breast and/or ovarian cancer were found to carry BRCA1 or BRCA2 mutations. Forty-one tested family members also carried the mutations. Of the females, 85.7% of the index patients opted for breast surveillance and 23.8% for prophylactic mastectomy. Of the family members, 82.4% chose breast surveillance and 17.7% had prophylactic mastectomy. The majority of index patients and family members preferred ovarian surveillance (84 and 82.4%). Amongst the index patients, 32% decided for prophylactic salpingo-oophorectomy; 17.6% of the family members who did not have history of ovarian cancer decided to have prophylactic salpingo-oophorectomy. All male index patients agreed to breast and prostate surveillance, including breast clinical examination and PSA monitoring. For those male family members found to be BRCA mutation carriers, 56.3% agreed to have breast surveillance and 66.7% agreed to have prostate surveillance. No index patient or family member agreed to any form of chemoprevention.

Chinese BRCA mutation carriers have a higher uptake of cancer surveillance than prophylactic surgery and have a lack of interest in the use of chemoprevention drugs.