Analysis of large deletions in <it>BRCA1</it>, <it>BRCA2 </it>and <it>PALB2 </it>genes in Finnish breast and ovarian cancer families

• Main Authors: Sólyom Szilvia, Nikkilä Jenni, Erkko Hannele, Pylkäs Katri, Winqvist Robert
• Format: Article
• Language: English
• Published: BMC 2008-05-01
• Series: BMC Cancer
• Online Access: http://www.biomedcentral.com/1471-2407/8/146

<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>