Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong, China.
World J Surg. 2010 Jul;34(7):1416-26. doi: 10.1007/s00268-010-0477-5.
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.
BRCA 基因突变会增加罹患乳腺癌、卵巢癌和前列腺癌的风险。携带该突变的家族可以进行强化监测并采取预防措施。这是亚洲地区携带该突变的中国人群中首次报告此类干预措施的接受情况。
本多中心研究纳入了因乳腺癌和（或）卵巢癌就诊并接受基因咨询和检测、携带 BRCA 基因突变的患者及其家族成员。
共发现 31 例乳腺癌和（或）卵巢癌患者携带 BRCA1 或 BRCA2 基因突变，41 名检测的家族成员也携带该突变。在女性中，85.7%的患者选择进行乳腺监测，23.8%的患者选择预防性乳房切除术。在家族成员中，82.4%选择乳腺监测，17.7%选择预防性乳房切除术。大多数患者和家族成员更倾向于进行卵巢监测（84%和 82.4%）。在患者中，32%决定进行预防性输卵管卵巢切除术；17.6%无卵巢癌病史的家族成员决定进行预防性输卵管卵巢切除术。所有男性患者均同意进行乳腺和前列腺监测，包括乳腺临床检查和 PSA 监测。对于发现携带 BRCA 基因突变的男性家族成员，56.3%同意进行乳腺监测，66.7%同意进行前列腺监测。没有患者或家族成员同意使用任何形式的化学预防药物。
中国 BRCA 基因突变携带者更倾向于接受癌症监测而非预防性手术，且对使用化学预防药物缺乏兴趣。
