Choice of management of Chinese women who carry the BRCA mutation

Abstract

Introduction: Mutations in the BRCA1 & BRCA2 genes confer risk in developing breast, ovarian and prostate cancer. Mutation carriers can be offered intensive surveillance and preventative measures. This study is the first to report the uptake of such measures in Chinese mutation carriers.

Material and Methods: Breast (BC) and or ovarian cancer (OC) patients were recruited for genetic counseling and testing in this multicenter study. Family members of positive probands were also tested.

Results: To date 28 index patients are found to carry the BRCA mutation: 25 females and 3 males. 24/25 (96%) females had BC and 1 had OC and family history (FH) of BC. All 3 males had BC. 23 family members were found to carry the mutation. 9/23 (39.1%) were males with no cancer. Of the females 8/14 (57.1%) had BC; 1/14 (7.1%) had OC and FH of BC; 2/14 (14.3%) had both BC and OC; 3/14 (21.4%) have no history of cancer. Excluding 7/25 (28%) who underwent bilateral mastectomy for bilateral BC, 4/18 (22.2%) had prophylactic mastectomy. 14/18 (77.8%) women agreed for breast surveillance including MRI breast except for 1 who did not agree for MRI scan. 5/25 (20%) probands had OC or ovarian cysts with bilateral oopherectomy performed. Of the remaining, 3/20 (15%) agreed for prophylactic oopherectomy, 17/20 (85%) for ovarian screening including pelvic examination, ultrasound and CA125 except 2 who did not agree for CA125. All 3 male index cases agreed for prostate and breast screening. 3//14 (21.4%) female family members had mastectomy performed for bilateral BC. 2/11(13.6%) of the remaining had prophylactic mastectomy. 9/11 (81.8%) agreed for clinical, radiological screening of which 6/9 (66.7%) included MRI screening. 2/14 (14.3%) family members already had oopherectomy performedfor OC or cysts. 1/12 (8.3%) of the remaining had prophylactic oopherectomy and 9/12 (75%) agreed for ovarian surveillance including CA125 except 1 who did not have CA125. All 9 male family members agreed for breast examination and 5/9 (55.6%) for prostate screening. No BRCA mutation carriers without history of breast cancer agreed for chemopreventive drugs.

Conclusions: Chinese BRCA mutation carriers have a higher uptake of intensive surveillance compared to prophylactic surgery for prevention. The use of chemopreventative drugs is not favoured.