Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer

Zhou, X.-L. (author): Department of Molecular Medicine, Karolinska Institutet, S-171 76 Stockholm, Sweden

Djureinovic, T. (author): Department of Molecular Medicine, Karolinska Institutet, S-171 76 Stockholm, Sweden

Werelius, B. (author): Department of Molecular Medicine, Karolinska Institutet, S-171 76 Stockholm, Sweden

Lindmark, G. (author): Department of Surgery, Helsingsborg Hospital, S-251 87 Helsingborg, Sweden

Sun, Xiao-Feng (author): Östergötlands Läns Landsting,Linköpings universitet,Hälsouniversitetet,Onkologi,Onkologiska kliniken US

Lindblom, A. (author): Karolinska Institutet,Department of Molecular Medicine, Karolinska Institutet, S-171 76 Stockholm, Sweden, Department of Molecular Medicine, CMM L8:02, Karolinska Institutet, S-171 76 Stockholm, Sweden

(creator_code:org_t)

Mary Ann Liebert Inc, 2005
2005
English.
In: Genetic Testing. - : Mary Ann Liebert Inc. - 1090-6576 .- 1557-7473. ; 9:2, s. 147-151

Related links:: https://urn.kb.se/re...; show more...; https://doi.org/10.1...; http://kipublication...; show less...

Abstract Subject headings

Biallelic germline mutations in the base excision repair gene MYH have been shown to predispose to a proportion of multiple colorectal adenomas and cancer. To evaluate the contribution of MYH mutations to non-FAP, non-HNPCC familial colorectal cancer, 84 unrelated Swedish individuals affected with colorectal cancer from such families were screened for germline mutations in the coding sequence of the gene. None of the cases was found to carry any pathogenic sequence change. We then determined the prevalence of the two most common pathogenic MYH mutations found in Caucasians, Y165C and G382D, in 450 Swedish sporadic colorectal cancer cases and 480 Swedish healthy controls. The frequency of both variants in Swedish cases and controls was similar to those previously reported. In addition, we found that previously unknown sequence variations at the position of amino acid 423 (R423Q, R423P, and R423R) appear to occur more frequently in cases than in controls (p = 0.02), a finding that warrants future studies. © Mary Ann Liebert, Inc.

By the author/editor: Zhou, X.-L.; Djureinovic, T.; Werelius, B.; Lindmark, G.; Sun, Xiao-Feng; Lindblom, A.

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