Genetics of colorectal cancer

Joanne M Jeter, Wendy Kohlmann, Stephen B. Gruber

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

Approximately 6% of colorectal cancers can be attributed to recognizable heritable germline mutations. Familial adenomatous polyposis is an autosomal dominant syndrome classically presenting with hundreds to thousands of adenomatous colorectal polyps that are caused by mutations in the APC gene. Adenomas typically develop in the midteens in these patients, and colorectal cancer is a virtual certainty if this condition is untreated. A low-penetrance susceptibility allele that is common in Jews from Eastern Europe, APC I1307K, confers a two-fold increased risk of colorectal cancer without the full expression of familial adenomatous polyposis. Biallelic mutations in the MYH gene are associated with an attenuated familial adenomatous polyposis phenotype. Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by early onset of colorectal cancer with microsatellite instability. Mutations in mismatch repair genes lead to a lifetime colon cancer risk of 85% in these patients; carcinomas of the endometrium, ovary, and other organs also occur with increased frequency. Although adenomas are not characteristic of the hamartomatous polyp syndromes such as juvenile polyposis and Peutz-Jeghers syndrome, individuals with these diseases have a markedly increased risk of colorectal cancer relative to the general population. In this review, we will describe the phenotypes, genotypes, diagnosis, and management of hereditary colon cancer syndromes.

Original languageEnglish (US)
Pages (from-to)269-276
Number of pages8
JournalOncology (Williston Park, N.Y.)
Volume20
Issue number3
StatePublished - 2006
Externally publishedYes

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Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Adenomatous Polyposis Coli
Adenoma
Colonic Neoplasms
Mutation
Hereditary Neoplastic Syndromes
Peutz-Jeghers Syndrome
APC Genes
Phenotype
Adenomatous Polyps
Jews
Eastern Europe
Microsatellite Instability
DNA Mismatch Repair
Penetrance
Germ-Line Mutation
Endometrial Neoplasms
Polyps
Genes

ASJC Scopus subject areas

  • Oncology

Cite this

Jeter, J. M., Kohlmann, W., & Gruber, S. B. (2006). Genetics of colorectal cancer. Oncology (Williston Park, N.Y.), 20(3), 269-276.

Genetics of colorectal cancer. / Jeter, Joanne M; Kohlmann, Wendy; Gruber, Stephen B.

In: Oncology (Williston Park, N.Y.), Vol. 20, No. 3, 2006, p. 269-276.

Research output: Contribution to journalArticle

Jeter, JM, Kohlmann, W & Gruber, SB 2006, 'Genetics of colorectal cancer', Oncology (Williston Park, N.Y.), vol. 20, no. 3, pp. 269-276.
Jeter JM, Kohlmann W, Gruber SB. Genetics of colorectal cancer. Oncology (Williston Park, N.Y.). 2006;20(3):269-276.
Jeter, Joanne M ; Kohlmann, Wendy ; Gruber, Stephen B. / Genetics of colorectal cancer. In: Oncology (Williston Park, N.Y.). 2006 ; Vol. 20, No. 3. pp. 269-276.
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