医学
结直肠癌
基因检测
遗传倾向
癌症
种系突变
林奇综合征
家族史
遗传咨询
癌症预防
生殖系
肿瘤科
生物信息学
突变
内科学
遗传学
DNA错配修复
疾病
基因
生物
作者
Elena M. Stoffel,Matthew B. Yurgelun
标识
DOI:10.1053/j.seminoncol.2016.08.002
摘要
Colorectal cancer (CRC) is the third most common cancer diagnosed in men and women and approximately 5% of cases are associated with identifiable germline mutations associated with hereditary cancer syndromes. Lifetime risks for CRC can approach 50%-80% for mutation carriers in the absence of endoscopic and/or surgical intervention, and early identification of at-risk individuals can guide clinical interventions for cancer prevention and treatment. Personal and family history and molecular phenotype of CRC tumors are used in determining which patients should be referred for clinical genetic evaluation. Outcomes of genetic testing performed using next-generation sequencing (NGS) multigene panels suggest there can be significant overlap in clinical features among the various hereditary cancer syndromes. This review summarizes new developments in diagnosis and management of patients with genetic predisposition to CRC.
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