Maga Tara, Balay Lara, Jung Barbara
University of Illinois Cancer Genetics Clinic, Department of Medicine, University of Illinois-Chicago, Chicago, Illinois, USA.
Gastroenterology and Hepatology, University of Illinois-Chicago, Chicago, Illinois, USA.
Clin Transl Gastroenterol. 2017 May 11;8(5):e92. doi: 10.1038/ctg.2017.19.
Colorectal cancer affects 1 in 20 men and women in their lifetime. About 30% of these cases have been shown to be familial while only about 5% are associated with a highly penetrant hereditary colon cancer syndrome. In many familial cases, however, no mutation in the commonly implicated CRC genes is found. With the development of next-generation sequencing, testing laboratories are now able to offer hereditary gastrointestinal panel testing, which allows for the simultaneous sequencing of a much broader set of genes associated with CRC. We discuss the advantages and disadvantages of such testing to inform best clinical practice.
结直肠癌在男性和女性一生中的发病率为二十分之一。其中约30%的病例已被证明具有家族性,而只有约5%与高外显率的遗传性结肠癌综合征相关。然而,在许多家族性病例中,并未发现常见的结直肠癌相关基因发生突变。随着下一代测序技术的发展,检测实验室现在能够提供遗传性胃肠道综合检测,该检测可以同时对更多与结直肠癌相关的基因进行测序。我们讨论了这种检测的优缺点,以为最佳临床实践提供参考。