未知基因突变的家族性结直肠癌现状及进展

State and advance of familial colorectal cancer without identifiable gene mutations

诊断为结直肠癌（CRC）患者中约30%有家族史,但是仅5%~6%携带已知的遗传性癌综合征相关基因种系突变。由于疾病表型和遗传学检测敏感度的限制,受累CRC家系的评估和管理非常棘手。本综述介绍了目前已知和未知（未来需要研究）的家族性CRC;用来判定与遗传性CRC相关的其他遗传/表观遗传因素相关的、新的基因组学方法。

Although 30% of individuals diagnozed with colorectal cancer（CRC）are reported a family history of the disease,only 5% to 6% carry germline mutations in genes associated with known hereditary cancer syndromes.The evaluation and management of families affected with CRC can be complicated by variability in disease phenotypes and the sensitivity of genetic tests is limited.In this review,we examine what is currently known about familial CRC and what we have yet to learn,and explore how novel genomic approaches might be used to identify additional genetic and epigenetic factors implicated in heritable risk for cancer.