Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer families
<p>Abstract</p> <p>Background</p> <p><it>BRCA1 </it>and <it>BRCA2 </it>are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, <it>PALB2 </it>has recently been identified as a b...
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| Format: | Article |
| Language: | English |
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BMC
2008-05-01
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| Series: | BMC Cancer |
| Online Access: | http://www.biomedcentral.com/1471-2407/8/146 |
| _version_ | 1818918872374312960 |
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| author | Sólyom Szilvia Nikkilä Jenni Erkko Hannele Pylkäs Katri Winqvist Robert |
| author_facet | Sólyom Szilvia Nikkilä Jenni Erkko Hannele Pylkäs Katri Winqvist Robert |
| author_sort | Sólyom Szilvia |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p><it>BRCA1 </it>and <it>BRCA2 </it>are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, <it>PALB2 </it>has recently been identified as a breast cancer susceptibility gene in several populations. Here we have evaluated whether large genomic rearrangement in these genes could explain some of Finnish breast and/or ovarian cancer families.</p> <p>Methods</p> <p>Altogether 61 index patients of Northern Finnish breast and/or ovarian cancer families were analyzed by Multiplex ligation-dependent probe amplification (MLPA) method in order to identify exon deletions and duplications in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2</it>. The families have been comprehensively screened for germline mutation in these genes by conventional methods of mutation analysis and were found negative.</p> <p>Results</p> <p>We identified one large deletion in <it>BRCA1</it>, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer. No large genomic rearrangements were identified in either <it>BRCA2 </it>or <it>PALB2</it>.</p> <p>Conclusion</p> <p>In Finland, women eligible for <it>BRCA1 </it>or <it>BRCA2 </it>mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in <it>BRCA1</it>. On the contrary, the genomic rearrangements in <it>PALB2 </it>seem not to contribute to the hereditary breast cancer susceptibility.</p> |
| first_indexed | 2024-12-20T00:56:52Z |
| format | Article |
| id | doaj.art-ac0754f340ed466dbfb1511844fd85d2 |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-12-20T00:56:52Z |
| publishDate | 2008-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-ac0754f340ed466dbfb1511844fd85d22022-12-21T19:59:05ZengBMCBMC Cancer1471-24072008-05-018114610.1186/1471-2407-8-146Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer familiesSólyom SzilviaNikkilä JenniErkko HannelePylkäs KatriWinqvist Robert<p>Abstract</p> <p>Background</p> <p><it>BRCA1 </it>and <it>BRCA2 </it>are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, <it>PALB2 </it>has recently been identified as a breast cancer susceptibility gene in several populations. Here we have evaluated whether large genomic rearrangement in these genes could explain some of Finnish breast and/or ovarian cancer families.</p> <p>Methods</p> <p>Altogether 61 index patients of Northern Finnish breast and/or ovarian cancer families were analyzed by Multiplex ligation-dependent probe amplification (MLPA) method in order to identify exon deletions and duplications in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2</it>. The families have been comprehensively screened for germline mutation in these genes by conventional methods of mutation analysis and were found negative.</p> <p>Results</p> <p>We identified one large deletion in <it>BRCA1</it>, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer. No large genomic rearrangements were identified in either <it>BRCA2 </it>or <it>PALB2</it>.</p> <p>Conclusion</p> <p>In Finland, women eligible for <it>BRCA1 </it>or <it>BRCA2 </it>mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in <it>BRCA1</it>. On the contrary, the genomic rearrangements in <it>PALB2 </it>seem not to contribute to the hereditary breast cancer susceptibility.</p>http://www.biomedcentral.com/1471-2407/8/146 |
| spellingShingle | Sólyom Szilvia Nikkilä Jenni Erkko Hannele Pylkäs Katri Winqvist Robert Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer families BMC Cancer |
| title | Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer families |
| title_full | Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer families |
| title_fullStr | Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer families |
| title_full_unstemmed | Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer families |
| title_short | Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer families |
| title_sort | analysis of large deletions in it brca1 it it brca2 it and it palb2 it genes in finnish breast and ovarian cancer families |
| url | http://www.biomedcentral.com/1471-2407/8/146 |
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