Open AccessCancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players
Author(s) -
Nazneen Rahman,
Richard Scott
Publication year - 2007
Publication title -
human molecular genetics online/human molecular genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.811
H-Index - 276
eISSN - 1460-2083
pISSN - 0964-6906
DOI - 10.1093/hmg/ddm026
Subject(s) - biology , genetics , mlh1 , cancer , mutation , phenotype , genetic predisposition , phenocopy , li–fraumeni syndrome , gene , msh2 , ataxia telangiectasia , germline mutation , cancer research , colorectal cancer , dna mismatch repair , dna damage , dna
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.