Somatic mutation analysis of <it>MYH11 </it>in breast and prostate cancer

<p>Abstract</p> <p>Background</p> <p><it>MYH11 </it>(also known as <it>SMMHC</it>) encodes the smooth-muscle myosin heavy chain, which has a key role in smooth muscle contraction. Inversion at the <it>MYH11 </it>locus is one of the mo...

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Main Authors: Waltering Kati, Winqvist Robert, Karhu Auli, Alhopuro Pia, Visakorpi Tapio, Aaltonen Lauri A
Format: Article
Language:English
Published: BMC 2008-09-01
Series:BMC Cancer
Online Access:http://www.biomedcentral.com/1471-2407/8/263
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spelling doaj-fab7bf30ea9f4e0880d362e009df816c2020-11-24T21:39:30ZengBMCBMC Cancer1471-24072008-09-018126310.1186/1471-2407-8-263Somatic mutation analysis of <it>MYH11 </it>in breast and prostate cancerWaltering KatiWinqvist RobertKarhu AuliAlhopuro PiaVisakorpi TapioAaltonen Lauri A<p>Abstract</p> <p>Background</p> <p><it>MYH11 </it>(also known as <it>SMMHC</it>) encodes the smooth-muscle myosin heavy chain, which has a key role in smooth muscle contraction. Inversion at the <it>MYH11 </it>locus is one of the most frequent chromosomal aberrations found in acute myeloid leukemia. We have previously shown that <it>MYH11 </it>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 <it>myh11 </it>underlying the zebrafish <it>meltdown </it>phenotype characterized by disrupted intestinal architecture. Recently, <it>MYH1 </it>and <it>MYH9 </it>have been identified as candidate breast cancer genes in a systematic analysis of the breast cancer genome.</p> <p>Methods</p> <p>The aim of this study was to investigate the role of somatic <it>MYH11 </it>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 <it>MYH11 </it>(altogether 8 exons out of 42 coding exons) that harboured mutations in colorectal cancer in our previous study.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>Little evidence for a role of somatic <it>MYH11 </it>mutations in the formation of breast or prostate cancers was obtained in this study.</p> http://www.biomedcentral.com/1471-2407/8/263
collection DOAJ
language English
format Article
sources DOAJ
author Waltering Kati
Winqvist Robert
Karhu Auli
Alhopuro Pia
Visakorpi Tapio
Aaltonen Lauri A
spellingShingle Waltering Kati
Winqvist Robert
Karhu Auli
Alhopuro Pia
Visakorpi Tapio
Aaltonen Lauri A
Somatic mutation analysis of <it>MYH11 </it>in breast and prostate cancer
BMC Cancer
author_facet Waltering Kati
Winqvist Robert
Karhu Auli
Alhopuro Pia
Visakorpi Tapio
Aaltonen Lauri A
author_sort Waltering Kati
title Somatic mutation analysis of <it>MYH11 </it>in breast and prostate cancer
title_short Somatic mutation analysis of <it>MYH11 </it>in breast and prostate cancer
title_full Somatic mutation analysis of <it>MYH11 </it>in breast and prostate cancer
title_fullStr Somatic mutation analysis of <it>MYH11 </it>in breast and prostate cancer
title_full_unstemmed Somatic mutation analysis of <it>MYH11 </it>in breast and prostate cancer
title_sort somatic mutation analysis of <it>myh11 </it>in breast and prostate cancer
publisher BMC
series BMC Cancer
issn 1471-2407
publishDate 2008-09-01
description <p>Abstract</p> <p>Background</p> <p><it>MYH11 </it>(also known as <it>SMMHC</it>) encodes the smooth-muscle myosin heavy chain, which has a key role in smooth muscle contraction. Inversion at the <it>MYH11 </it>locus is one of the most frequent chromosomal aberrations found in acute myeloid leukemia. We have previously shown that <it>MYH11 </it>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 <it>myh11 </it>underlying the zebrafish <it>meltdown </it>phenotype characterized by disrupted intestinal architecture. Recently, <it>MYH1 </it>and <it>MYH9 </it>have been identified as candidate breast cancer genes in a systematic analysis of the breast cancer genome.</p> <p>Methods</p> <p>The aim of this study was to investigate the role of somatic <it>MYH11 </it>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 <it>MYH11 </it>(altogether 8 exons out of 42 coding exons) that harboured mutations in colorectal cancer in our previous study.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>Little evidence for a role of somatic <it>MYH11 </it>mutations in the formation of breast or prostate cancers was obtained in this study.</p>
url http://www.biomedcentral.com/1471-2407/8/263
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