作者: Derek G. Power , Emily Gloglowski , Steven M. Lipkin
DOI: 10.1016/J.HOC.2010.06.006
关键词: Medicine 、 Colorectal cancer 、 Germline 、 Oncology 、 Lynch syndrome 、 Genetic testing 、 Cancer 、 DNA mismatch repair 、 Medical genetics 、 Germline mutation 、 Internal medicine 、 Gastroenterology
摘要: Colorectal cancer (CRC) is a common disease, and approximately 25% of patients have familial component. High-penetrance singlegene germline mutations conferring true hereditary susceptibility account for around 5% to 6% all cases. Lynch syndrome the most form colorectal cancer. Much component in remaining cases CRC likely polygenic, many genetic changes involved are as yet unidentified. This article addresses clinically important syndromes.