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Somatic mutation analysis of MYH11 in breast and prostate cancer
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 occ...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2008
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562392/ https://www.ncbi.nlm.nih.gov/pubmed/18796164 http://dx.doi.org/10.1186/1471-2407-8-263 |
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author | Alhopuro, Pia Karhu, Auli Winqvist, Robert Waltering, Kati Visakorpi, Tapio Aaltonen, Lauri A |
author_facet | Alhopuro, Pia Karhu, Auli Winqvist, Robert Waltering, Kati Visakorpi, Tapio Aaltonen, Lauri A |
author_sort | Alhopuro, Pia |
collection | PubMed |
description | 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. CONCLUSION: Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers was obtained in this study. |
format | Text |
id | pubmed-2562392 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-25623922008-10-07 Somatic mutation analysis of MYH11 in breast and prostate cancer Alhopuro, Pia Karhu, Auli Winqvist, Robert Waltering, Kati Visakorpi, Tapio Aaltonen, Lauri A BMC Cancer Research Article 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. CONCLUSION: Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers was obtained in this study. BioMed Central 2008-09-17 /pmc/articles/PMC2562392/ /pubmed/18796164 http://dx.doi.org/10.1186/1471-2407-8-263 Text en Copyright © 2008 Alhopuro et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Alhopuro, Pia Karhu, Auli Winqvist, Robert Waltering, Kati Visakorpi, Tapio Aaltonen, Lauri A Somatic mutation analysis of MYH11 in breast and prostate cancer |
title | Somatic mutation analysis of MYH11 in breast and prostate cancer |
title_full | Somatic mutation analysis of MYH11 in breast and prostate cancer |
title_fullStr | Somatic mutation analysis of MYH11 in breast and prostate cancer |
title_full_unstemmed | Somatic mutation analysis of MYH11 in breast and prostate cancer |
title_short | Somatic mutation analysis of MYH11 in breast and prostate cancer |
title_sort | somatic mutation analysis of myh11 in breast and prostate cancer |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562392/ https://www.ncbi.nlm.nih.gov/pubmed/18796164 http://dx.doi.org/10.1186/1471-2407-8-263 |
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