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Background   BRCA1  and  BRCA2  are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition,  PALB2  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.    Methods  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  BRCA1 ,  BRCA2  and  PALB2 . The families have been comprehensively screened for germline mutation in these genes by conventional methods of mutation analysis and were found negative.    Results  We identified one large deletion in  BRCA1 , 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  BRCA2  or  PALB2 .    Conclusion  In Finland, women eligible for  BRCA1  or  BRCA2  mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in  BRCA1 . On the contrary, the genomic rearrangements in  PALB2  seem not to contribute to the hereditary breast cancer susceptibility.

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