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Hereditary and Familial Colon Cancer

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1 Hereditary and Familial Colon Cancer
Kory W. Jasperson, Thérèse M. Tuohy, Deborah W. Neklason, Randall W. Burt  Gastroenterology  Volume 138, Issue 6, Pages (May 2010) DOI: /j.gastro Copyright © 2010 AGA Institute Terms and Conditions

2 Figure 1 Model of colon cancer risk susceptibility. Colon cancer risk can be stratified by the estimated lifetime risk of colon cancer (Y-axis) versus the approximate frequency in CRC cases (X-axis). The well-defined rare genetic conditions include the high lifetime risk syndromes, FAP: familial adenomatous polyposis coli; AFAP: MAP: MUTYH-associated polyposis; LS: Lynch syndrome; attenuated FAP; HPP: hyperplastic polyposis; Hamartomatous: hamartomatous polyp syndromes. The clinically defined familial subset includes High Risk Familial: Amsterdam II in the absence of LS/MSI), and uncharacterized familial with a clear hereditary component based on family history, in which the causative genetic factors are not defined. Common population risk factors include Polymorphisms: SNPs identified with increased risk in multiple studies (see text); GWAS: genome-wide association studies, including combinatorial or additive risks; The largest subsets, accounting for 70% of CRC is Sporadic: the population risk that may include unidentified combinations of rare and common genetic factors in the context of environmental influences. Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2010 AGA Institute Terms and Conditions

3 Figure 2 Schematic representation of subsets of genetic variants that influence CRC and polyp phenotypes. Variants of some genes, and within overlapping groups of genes, may contribute to phenotype both in inherited and population CRC, depending on the genetic change, and other concomitant genetic and environmental patient factors. Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2010 AGA Institute Terms and Conditions

4 Kory W. Jasperson* Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2010 AGA Institute Terms and Conditions

5 Thérèse M. Tuohy* Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2010 AGA Institute Terms and Conditions

6 Deborah W. Neklason‡ Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2010 AGA Institute Terms and Conditions

7 Randall W. Burt§ Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2010 AGA Institute Terms and Conditions


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