Hatfield Elizabeth, Green Jane S, Woods Michael O, Warden Geoff, Parfrey Patrick S
Clinical Epidemiology Unit, Memorial University, St. John's, Newfoundland, Canada.
Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland, Canada.
Mol Genet Genomic Med. 2018 Nov;6(6):1021-1030. doi: 10.1002/mgg3.478. Epub 2018 Oct 9.
Hereditary Non-Polyposis Colorectal cancer is caused by Lynch Syndrome (LS; an autosomal dominant condition) or by Familial Colorectal Cancer Type-X (FCCTX; a condition of high family risk that fulfills Amsterdam criteria). The lifetime risk of developing colorectal cancer (CRC) in FCCTX family members is high and CRC occurs later than in LS.
To determine the impact of primary prevention colonoscopic screening in asymptomatic first-degree relatives of incident CRC cases in 20 families with FCCTX, we compared cancer incidence and survival in 79 males and 83 females, assumed to be at 50% risk of inheriting a genetic CRC susceptibility factor, who entered screening to an unscreened control group from the families, matched for age at entry into screening and for sex.
In males, median age at entry into screening was 44.8 years, median follow-up 12.4 years, 12% developed CRC, and 46% died after 30 years of follow-up. Compared to the unscreened group, relative risk of CRC was 0.27 (95% confidence intervals (CI) 0.10-0.71). In screened females, comparable results were 44.5 years at entry, 11.2 years of follow-up, 7.1% developed CRC, and 7.2% died after 30 years of follow-up. The relative risk of CRC compared to the unscreened group was 0.19 (95% CI 0.07-0.48).
Primary prevention screening colonoscopy in asymptomatic family members significantly decreased the risk of CRC in FCCTX.
遗传性非息肉病性结直肠癌由林奇综合征（LS；一种常染色体显性疾病）或X型家族性结直肠癌（FCCTX；一种符合阿姆斯特丹标准的高家族风险疾病）引起。FCCTX家族成员患结直肠癌（CRC）的终生风险很高，且CRC发病时间比LS患者晚。
为了确定在20个患有FCCTX的家庭中，对初发CRC病例的无症状一级亲属进行一级预防结肠镜筛查的影响，我们比较了79名男性和83名女性的癌症发病率和生存率，这些人被认为有50%的风险继承遗传性CRC易感性因素，他们进入筛查组，与来自这些家庭的未筛查对照组进行匹配，匹配因素为进入筛查时的年龄和性别。
在男性中，进入筛查的中位年龄为44.8岁，中位随访时间为12.4年，12%的人患CRC，46%的人在随访30年后死亡。与未筛查组相比，CRC的相对风险为0.27（95%置信区间（CI）0.10 - 0.71）。在接受筛查的女性中，相应结果为进入筛查时年龄44.5岁，随访11.2年，7.1%的人患CRC，7.2%的人在随访30年后死亡。与未筛查组相比，CRC的相对风险为0.19（95%CI 0.07 - 0.48）。
对无症状家庭成员进行一级预防筛查结肠镜检查可显著降低FCCTX患者患CRC的风险。
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