遗传性结直肠癌综合征

Hereditary Colorectal Cancer Syndromes.

作者信息

Wells Katerina, Wise Paul E

机构信息

Department of Surgery, Division of Colon and Rectal Surgery, Baylor University Medical Center, 3409 Worth Street, Suite 640, Dallas, TX 75246, USA.

Division of General Surgery, Section of Colon and Rectal Surgery, Washington University Inherited Colorectal Cancer and Polyposis Registry, Washington University General Surgery Residency, Washington University in St Louis School of Medicine, 660 South Euclid Avenue, Campus Box 8109, St Louis, MO 63110, USA.

出版信息

Surg Clin North Am. 2017 Jun;97(3):605-625. doi: 10.1016/j.suc.2017.01.009.

DOI:10.1016/j.suc.2017.01.009

PMID:28501250

Abstract

Awareness of hereditary colorectal cancer syndromes is important to facilitate their identification because affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies, and certain extracolonic malignancies depending on the syndrome. Identification of an affected individual allows for screening and early interventions for patients and their at-risk kindred. Genetic counseling and testing is important to the care of these patients. As knowledge of the genetic basis of these syndromes grows, unique genotype-phenotype profiles allow clinicians to tailor surveillance and treatment strategies based on individual risk.

摘要

认识遗传性结直肠癌综合征对于促进其识别很重要，因为受影响的患者患早发性、同时性和异时性结直肠恶性肿瘤以及某些取决于该综合征的结肠外恶性肿瘤的风险增加。识别出受影响的个体可为患者及其高危亲属提供筛查和早期干预。遗传咨询和检测对这些患者的护理很重要。随着对这些综合征遗传基础的认识不断增加，独特的基因型-表型特征使临床医生能够根据个体风险制定监测和治疗策略。