Wagner Anja, van Kessel Ingrid, Kriege Mieke G, Tops Carli M J, Wijnen Juul Th, Vasen Hans F A, van der Meer Conny A, van Oostrom Iris I H, Meijers-Heijboer Hanne
Department of Clinical Genetics, Erasmus University Medical Center, Westzeedijk 112-114, AH Rotterdam, 3016, The Netherlands.
Fam Cancer. 2005;4(4):295-300. doi: 10.1007/s10689-005-0658-9.
Hereditary non polyposis colorectal cancer (HNPCC) is a hereditary predisposition to colorectal and endometrial cancer, caused by mutations of the mismatch repair (MMR) genes MSH2, MLH1 and MSH6. Regular colonoscopy reduces the incidence of colorectal cancer in mutation carriers dramatically. The aim of this study was to evaluate the use of colonoscopy by proven HNPCC mutation carriers. We also evaluated the satisfaction with the counseling and screening procedures at the long term. A questionnaire survey was performed among 94 proven MMR gene mutation carriers. Data were analyzed using univariate and multivariate analysis. The average time of follow-up was 3,5 years (range 0.5-8.5 years). The response rate was 74%. The proportion of unaffected mutation carriers under colonoscopic screening increased from 31 to 88% upon genetic testing, and for gynecological screening from 17 to 69%. However, more than half of the responders experienced colonoscopy as unpleasant or painful. About 97% felt well informed during counseling, and 88% felt sufficiently supported. Ten percent of the responders reported a high cancer worry that was significantly (P = 0.007) associated with a high perceived cancer risk. Six responders (9%) regretted being tested. Remarkably, of 4 of these 6 a close relative died recently of cancer. Problems with obtaining a disability or life insurance or mortgage were experienced by 4 out 10 healthy carriers opting for these services. In conclusion, genetic testing for HNPCC considerably improves compliance for screening, which will result in a reduction of HNPCC-related cancer morbidity and mortality in mutation carriers. Most HNPCC gene mutation carriers cope well with their cancer susceptibility on the long term.
遗传性非息肉病性结直肠癌（HNPCC）是一种结直肠癌和子宫内膜癌的遗传易感性疾病，由错配修复（MMR）基因MSH2、MLH1和MSH6的突变引起。定期结肠镜检查可显著降低突变携带者患结直肠癌的发生率。本研究的目的是评估已证实的HNPCC突变携带者对结肠镜检查的使用情况。我们还评估了长期对咨询和筛查程序的满意度。对94名已证实的MMR基因突变携带者进行了问卷调查。使用单变量和多变量分析对数据进行分析。平均随访时间为3.5年（范围0.5 - 8.5年）。应答率为74%。在结肠镜筛查中，未受影响的突变携带者比例从基因检测前的31%增加到88%，妇科筛查的比例从17%增加到69%。然而，超过一半的应答者认为结肠镜检查不愉快或痛苦。约97%的人在咨询过程中感觉信息充分，88%的人感觉得到了充分支持。10%的应答者报告有高度的癌症担忧，这与高感知癌症风险显著相关（P = 0.007）。6名应答者（9%）后悔进行了检测。值得注意的是，这6人中的4人有近亲最近死于癌症。在选择这些服务的10名健康携带者中，有4人遇到了获得残疾、人寿保险或抵押贷款方面的问题。总之，HNPCC的基因检测显著提高了筛查的依从性，这将降低突变携带者中与HNPCC相关的癌症发病率和死亡率。大多数HNPCC基因突变携带者长期能很好地应对其癌症易感性。
