Department of Breast Surgery, Cork University Hospital, Cork, Ireland.
Department of General Surgery, University Hospital Kerry, Tralee, Ireland.
Br J Surg. 2020 Jul;107(8):951-959. doi: 10.1002/bjs.11603. Epub 2020 Apr 16.
Carriers of the BRCA1 and/or BRCA2 mutation incur a lifetime risk of up to 85 per cent for breast cancer, and between 20 and 40 per cent for ovarian cancer. Efforts to estimate the lifetime risk of developing colorectal cancer for BRCA mutation carriers have produced conflicting results. Consequently, there are no formal guidelines regarding the need for bowel screening for individuals with BRCA1 and/or BRCA2 mutations. This systematic review and meta-analysis determined the risk of colorectal cancer associated with BRCA carrier mutations.
The primary outcome was incidence of colorectal cancer in BRCA mutation carriers. Secondary outcomes were the incidence in BRCA1 and BRCA2 carriers, Ashkenazi Jews, and age- and sex-matched cohorts.
Eleven studies were included in the review, with an overall population of 14 252 and 4831 colorectal cancers identified. Nine studies were included in the meta-analysis. There was no increase in colorectal cancer among patients carrying a BRCA mutation (odds ratio 1·03, 95 per cent c.i. 0·80 to 1·32; P = 0·82). After adjustment for Ashkenazi heritage, and age and sex estimates, there was no increased odds of developing colorectal cancer (with no heterogeneity, I = 0 per cent).
BRCA1 and/or BRCA2 mutation carriers are not at a higher risk of colorectal cancer.
BRCA1 和/或 BRCA2 基因突变携带者的乳腺癌终生发病风险高达 85%，卵巢癌终生发病风险在 20%至 40%之间。评估 BRCA 基因突变携带者结直肠癌终生发病风险的努力得出了相互矛盾的结果。因此，对于携带 BRCA1 和/或 BRCA2 突变的个体，是否需要进行肠道筛查尚无正式指南。本系统评价和荟萃分析旨在确定 BRCA 携带者突变与结直肠癌风险之间的关系。
主要结局是 BRCA 突变携带者中结直肠癌的发病率。次要结局是 BRCA1 和 BRCA2 携带者、阿什肯纳兹犹太人以及年龄和性别匹配队列中的发病率。
共纳入 11 项研究，总人群为 14252 人，共发现 4831 例结直肠癌。9 项研究纳入荟萃分析。携带 BRCA 突变的患者结直肠癌发病率没有增加（比值比 1.03，95%置信区间 0.80 至 1.32；P=0.82）。在调整阿什肯纳兹血统以及年龄和性别估计值后，结直肠癌发病的几率没有增加（无异质性，I=0%）。
BRCA1 和/或 BRCA2 基因突变携带者结直肠癌发病风险并未增加。
