MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer |
| |
Authors: | Astrid Stormorken Karen-Marie Heintz Per Arne Andresen Eivind Hovig Pål Møller |
| |
Affiliation: | 1.Section for Inherited Cancer, Department for Medical Genetics,Rikshospitalet-Radiumhospitalet Medical Center, The Norwegian Radium Hospital,Oslo,Norway;2.Department of Tumour Biology, Institute for Cancer Research,Rikshospitalet-Radiumhospitalet Medical Center,Oslo,Norway;3.Department of Pathology,Rikshospitalet-Radiumhospitalet Medical Center,Oslo,Norway |
| |
Abstract: | Recently, carriers of biallelic mutations in the base excision repair gene MUTYH, have been demonstrated to have a predisposition for multiple adenomas and colorectal cancer. Still, many questions remain unanswered concerning MUTYH. We have addressed the following: Do biallelic MUTYH mutation carriers invariably demonstrate FAP, and may MUTYH be a gene causing HNPCC, HNPCC-like or dominantly inherited late onset colorectal cancer? We examined affecteds from our total series of HNPCC, HNPCC-like and dominantly inherited late onset colorectal cancer kindreds not demonstrated to have any MMR mutations. Bloodsamples from 96 patients were subjected to sequencing of exon 7 and exon 13 in the MUTYH gene. Two heterozygotes and one homozygote for the European founder mutations were found. The homozygous carrier did not meet criteria for FAP/AFAP. We conclude that MUTYH, when mutated, causes a rare recessively inherited disorder including colorectal- and duodenal cancers. It is not verified that heterozygous carriers of MUTYH mutations have an increased risk of cancer, and they do not explain the occurrence of familial colorectal cancer in the population. |
| |
Keywords: | familial adenomatous polyposis coli hereditary non-polyposis colorectal cancer late onset familial colorectal cancer MUTYH mutations |
本文献已被 SpringerLink 等数据库收录! |
|