Somatic mutation analysis of MYH11in breast and prostate cancer |
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| Authors: | Pia Alhopuro Auli Karhu Robert Winqvist Kati Waltering Tapio Visakorpi Lauri A Aaltonen |
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| Affiliation: | (1) Department of Medical Genetics and Translational Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland;(2) Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland;(3) Laboratory of Cancer Genetics, Oulu University Hospital and University of Oulu/Biocenter Oulu, Oulu, Finland;(4) Institute of Medical Technology and Tampere University Hospital, University of Tampere, Tampere, Finland |
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| Abstract: | ![]()
Background MYH11 (also known as SMMHC) encodes the smooth-muscle myosin heavy chain, which has a key role in smooth muscle contraction. Inversion at the MYH11 locus is one of the most frequent chromosomal aberrations found in acute myeloid leukemia. We have previously shown that MYH11 mutations occur in human colorectal cancer, and may also be associated with Peutz-Jeghers syndrome. The mutations found in human intestinal neoplasia result in unregulated proteins with constitutive motor activity, similar to the mutant myh11 underlying the zebrafish meltdown phenotype characterized by disrupted intestinal architecture. Recently, MYH1 and MYH9 have been identified as candidate breast cancer genes in a systematic analysis of the breast cancer genome. |
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