title: Somatic mutation analysis of MYH11 in breast and prostate cancer.
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.
  
  
  METHODS
  The aim of this study was to investigate the role of somatic MYH11 mutations in two common tumor types; breast and prostate cancers. A total of 155 breast cancer and 71 prostate cancer samples were analyzed for those regions in MYH11 (altogether 8 exons out of 42 coding exons) that harboured mutations in colorectal cancer in our previous study.
  
  
  RESULTS
  In breast cancer samples only germline alterations were observed. One prostate cancer sample harbored a frameshift mutation c.5798delC, which we have previously shown to result in a protein with unregulated motor activity.
  
  
  CONCLUSIONS
  Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers was obtained in this study.
authors.affiliation: Department of Medical Genetics and Translational Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland. pia.alhopuro@helsinki.fi
authors.forename: Pia
authors.initials: P
authors.lastname: Alhopuro
authors.forename: Auli
authors.initials: A
authors.lastname: Karhu
authors.forename: Robert
authors.initials: R
authors.lastname: Winqvist
authors.forename: Kati
authors.initials: K
authors.lastname: Waltering
authors.forename: Tapio
authors.initials: T
authors.lastname: Visakorpi
authors.forename: Lauri A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D045744:Cell Line, Tumor; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D011471:Prostatic Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C509903:MYH11 protein, human; D018995:Myosin Heavy Chains
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