Lung M S, Trainer A H, Campbell I, Lipton L
Research Division, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Intern Med J. 2015 May;45(5):482-91. doi: 10.1111/imj.12736.
Identifying individuals with a genetic predisposition to developing familial colorectal cancer (CRC) is crucial to the management of the affected individual and their family. In order to do so, the physician requires an understanding of the different gene mutations and clinical manifestations of familial CRC. This review summarises the genetics, clinical manifestations and management of the known familial CRC syndromes, specifically Lynch syndrome, familial adenomatous polyposis, MUTYH-associated neoplasia, juvenile polyposis syndrome and Peutz-Jeghers syndrome. An individual suspected of having a familial CRC with an underlying genetic predisposition should be referred to a familial cancer centre to enable pre-test counselling and appropriate follow up.
识别具有患家族性结直肠癌(CRC)遗传易感性的个体对于受影响个体及其家族的管理至关重要。为了做到这一点,医生需要了解家族性CRC的不同基因突变和临床表现。本综述总结了已知的家族性CRC综合征的遗传学、临床表现和管理,特别是林奇综合征、家族性腺瘤性息肉病、MUTYH相关肿瘤、幼年性息肉病综合征和黑斑息肉综合征。怀疑患有潜在遗传易感性家族性CRC的个体应转诊至家族癌症中心,以便进行检测前咨询和适当的随访。