Lavie Ofer, Gruber Stephen B, Lejbkowicz Flavio, Dishon Sara, Rennert Gad
Division of Gynecology & Oncology, Carmel Medical Center, B Rappaport Faculty of Medicine, Technion, Haifa, Israel.
Am J Obstet Gynecol. 2008 Aug;199(2):148.e1-3. doi: 10.1016/j.ajog.2008.02.018.
A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews. Although the incidence of colorectal cancer in carriers is relatively well established, the frequency of other tumors is less clear.
We studied a consecutive series of 19 carrier families that were cared for by the Clalit Health Studies National Familial Cancer Consultation Service, most of whom were identified through a population-based case-control study of colorectal cancer in northern Israel.
Gynecologic cancers, 88% of which (28 cases) were endometrial cancers, were diagnosed in 78.9% of the carrier families and in 26.2% of the women who were at risk, with a mean age at diagnosis of 51.2 years. Forty-six percent of the women with endometrial cancer reported at least 1 other primary tumor.
Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women with an endometrial cancer, especially if the cancer is detected before the age of 70 years in women with a personal or family history of colorectal cancer.
在德系犹太人中发现错配修复基因2（MSH2）的奠基者突变A636P与遗传性非息肉病性结直肠癌有关。虽然携带该突变者患结直肠癌的发病率已相对明确，但其他肿瘤的发病频率尚不清楚。
我们研究了由克拉利特健康研究国家家族性癌症咨询服务中心照料的19个连续的携带该突变的家系，其中大多数是通过以色列北部一项基于人群的结直肠癌病例对照研究确定的。
78.9%的携带该突变的家系以及26.2%有患病风险的女性被诊断患有妇科癌症，其中88%（28例）为子宫内膜癌，诊断时的平均年龄为51.2岁。46%患有子宫内膜癌的女性报告至少还患有一种其他原发性肿瘤。
对于患有子宫内膜癌的德系犹太女性，尤其是有个人或家族结直肠癌病史且在70岁之前被诊断出患癌的女性，建议进行MSH2 A636P突变的遗传咨询和检测。
