遗传性结直肠癌综合征中基因检测的应用：遗传性非息肉病性结直肠癌（HNPCC）、（非典型）家族性腺瘤性息肉病（(A)FAP）和微卫星高度不稳定型结直肠癌（MAP）中的基因检测
The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP.
作者信息
Ramsoekh D, van Leerdam M E, Tops C M J, Dooijes D, Steyerberg E W, Kuipers E J, Wagner A
机构信息
Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
出版信息
Clin Genet. 2007 Dec;72(6):562-7. doi: 10.1111/j.1399-0004.2007.00912.x. Epub 2007 Oct 7.
This study evaluated the use of genetic testing and time trends in hereditary non-polyposis colorectal cancer (HNPCC), (attenuated) familial adenomatous polyposis [(A)FAP] and human MutY homolog (MUTYH) associated polyposis (MAP) families. Eighty-seven families, who were diagnosed with disease-causing mutations between 1995 and 2006, were included in this study. The families consisted of 1547 individuals at risk. Data of these individuals were collected from medical records and family pedigrees. There was considerable interest in genetic testing with test rates of 41% in HNPCC families, 42% in (A)FAP families and 53% in MAP families. The use of genetic testing was associated with age and parenthood. Despite the interest in genetic testing, many risk carriers do not apply for testing. Moreover, time trend analysis showed a decline in test rate in HNPCC families. Studies evaluating the reasons for not testing are needed. Furthermore, a better implementation of genetic testing in clinical practice is desirable.
本研究评估了遗传性非息肉病性结直肠癌（HNPCC）、（弱化型）家族性腺瘤性息肉病[（A）FAP]以及人MutY同源物（MUTYH）相关息肉病（MAP）家系中基因检测的应用情况及时间趋势。本研究纳入了1995年至2006年间被诊断出致病突变的87个家系。这些家系共有1547名有患病风险的个体。这些个体的数据从医疗记录和家系图谱中收集。基因检测受到了广泛关注，HNPCC家系的检测率为41%，（A）FAP家系为42%，MAP家系为53%。基因检测的应用与年龄和生育状况有关。尽管对基因检测感兴趣，但许多风险携带者并未申请检测。此外，时间趋势分析显示HNPCC家系的检测率有所下降。需要开展研究评估不进行检测的原因。此外，在临床实践中更好地实施基因检测是很有必要的。
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