Journal Article

Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players

Nazneen Rahman and Richard H. Scott

in Human Molecular Genetics

Volume 16, issue R1, pages R60-R66
Published in print April 2007 | ISSN: 0964-6906
Published online April 2007 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddm026
Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players

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Autosomal dominant cancer predisposition genes for common cancers such as breast cancer and colorectal cancer have been well recognized for over a decade. Monoallelic mutations in these genes are associated with high risks of adult-onset cancer. In recent years, it has become apparent that biallelic mutations in some of these genes, such as BRCA2, MSH2 and MLH1, result in distinctive phenotypes, including childhood cancer predisposition. Conversely, it has also become evident that some genes which cause autosomal recessive cancer predisposition syndromes such as Fanconi anaemia and ataxia-telangiectasia are associated with modestly increased risks of adult cancers in monoallelic mutation carriers. These observations raise interesting implications with respect to the identification and phenotypic characterization of cancer predisposition genes.

Journal Article.  4218 words.  Illustrated.

Subjects: Genetics and Genomics

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