演題抄録

基調講演

開催概要
開催回
第51回・2013年・京都
 

Genetics and Hereditary Colon Cancer Risk

演題番号 : KL-5

[筆頭演者]
Daniel C. Chung:1 

1:Gastrointestinal Unit and Cancer Center, Massachusetts General Hospital, USA

 

Colon cancer is one of the best understood solid malignancies on a molecular level. Elegant studies have revealed that colon cancers are quite heterogeneous genetically and there are multiple distinct pathways to colorectal tumorigenesis. Many of the genetic alterations that are observed somatically can also be identified in the germline in a subset of individuals with colon cancer, and these germline alterations result in a dramatically increased risk of colon cancer. As many as five percent of all colon cancer cases are attributable to a hereditary colon cancer syndrome. These syndromes confer a diverse spectrum of risk, age of presentation, endoscopic and histological findings, extracolonic manifestations, and modes of inheritance. As the molecular characteristics of these disorders become better described, enhanced genotype-phenotype correlations may offer a more targeted approach to diagnosis, screening, and surveillance. While the strategies for diagnosis and management of Familial Adenomatous Polyposis (FAP) and Lynch syndrome are more established, the approach to newly recognized syndromes such as MUTYH associated polyposis (MAP) and hyperplastic polyposis continues to evolve. Effective cancer prevention in affected individuals and at-risk family members requires timely recognition of these hereditary colon cancer syndromes followed by integration of appropriate genetic testing and clinical examinations. Recognition of a high-risk individual or family is the first step to diagnosing a hereditary colon cancer syndrome. New strategies that may facilitate enhanced diagnosis of these conditions include universal tumor testing for Lynch syndrome and the use of "cancer gene panels" that make possible simultaneous analysis of multiple genes at a reduced cost.

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