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Previous Volume 348:791-799 February 27, 2003 Number 9 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Editorial by Marra, G. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

ABSTRACT

Background Germ-line mutations in the base-excision–repair gene MYH have been associated with recessive inheritance of multiple colorectal adenomas. Tumors from affected persons displayed excess somatic transversions of a guanine–cytosine pair to a thymine–adenine pair (G:CT:A) in the APC gene.

Methods We screened for germ-line MYH mutations in 152 patients with multiple (3 to 100) colorectal adenomas and 107 APC-mutation–negative probands with classic familial adenomatous polyposis (>100 adenomas). Subgroups were analyzed for changes in the related genes MTH1 and OGG1. Adenomas were tested for somatic APC mutations.

Results Six patients with multiple adenomas and eight patients with polyposis had biallelic germline MYH variants. Missense and protein-truncating mutations were found, and the spectrums of mutations were very similar in the two groups of patients. In the tumors of carriers of biallelic mutations, all somatic APC mutations were G:CT:A transversions. In the group with multiple adenomas, about one third of patients with more than 15 adenomas had biallelic MYH mutations. In the polyposis group, no patient with biallelic MYH mutations had severe disease (>1000 adenomas), but three had extracolonic disease. No clearly pathogenic MTH1 or OGG1 mutations were identified.

Conclusions Germ-line MYH mutations predispose persons to a recessive phenotype, multiple adenomas, or polyposis coli. For patients with about 15 or more colorectal adenomas — especially if no germ-line APC mutation has been identified and the family history is compatible with recessive inheritance — genetic testing of MYH is indicated for diagnosis and calculation of the level of risk in relatives. Clinical care of patients with biallelic MYH mutations should be similar to that of patients with classic or attenuated familial adenomatous polyposis.

Source Information

From the Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London (O.M.S., L.L., M.C., I.P.M.T.); the Cancer Research UK Colorectal Unit and Polyposis Registry, St. Mark's Hospital, Harrow, United Kingdom (L.L., M.C., R.K.S.P., H.J.W.T.); the Department of Clinical Genetics, Guy's Hospital, London (L.L., S.V.H.); the Research Group on Human Genetics, Division of Medical Genetics, University Clinics, Basel, Switzerland (K.H.); the Instituto Portugues de Oncologia, Lisbon, Portugal (P.F.); the Danish Polyposis Register, Department of Gastroenterology, Hvidovre University Hospital, Hvidovre, Denmark (M.-L.B.); the Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark (T.F.O.); and the Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland (L.A.A.).

Mr. Sieber and Dr. Lipton contributed equally to this article.

Address reprint requests to Dr. Tomlinson at the Molecular and Population Genetics Laboratory, Cancer Research UK, 44 Lincoln's Inn Fields, London WC2A 3PX, United Kingdom, or at ian.tomlinson{at}cancer.org.uk.

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