Current Colorectal Cancer Reports

, Volume 7, Issue 1, pp 8–15

Genetic Evaluation of Polyposis

  • Angus D. Thomson
  • Raymond Kwok
  • Martin D. Weltman
Article

DOI: 10.1007/s11888-010-0073-y

Cite this article as:
Thomson, A.D., Kwok, R. & Weltman, M.D. Curr Colorectal Cancer Rep (2011) 7: 8. doi:10.1007/s11888-010-0073-y
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Abstract

There is substantial ongoing work in elucidating the genetics of colorectal cancer (CRC). In this article, the state of the art and clinical application of CRC genetics for syndromic, familial, and sporadic carcinoma are discussed in detail. Clinical manifestations, genetics, diagnosis, and surveillance are discussed for major colorectal cancer syndromes. When a genetic polyposis syndrome is suspected, diagnosis should be confirmed. Careful consideration of screening for associated extracolonic conditions will lead to better patient outcomes. Genetic counseling and screening of family members is often indicated.

Keywords

Polyposis Colorectal cancer Genetics Adenoma Hereditary non-polyposis colorectal cancer Lynch syndrome Familial adenomatous polyposis Adenomatous polyposis coli MUTYH Peutz-Jeghers syndrome Juvenile polyposis syndrome Familial colorectal cancer 

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Angus D. Thomson
    • 1
  • Raymond Kwok
    • 1
  • Martin D. Weltman
    • 1
    • 2
  1. 1.Department of Gastroenterology and HepatologyNepean HospitalKingswoodAustralia
  2. 2.Nepean Clinical SchoolUniversity of SydneySydneyAustralia

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