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Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in finnish breast and ovarian cancer families



Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in finnish breast and ovarian cancer families



Cancer Genetics & Cytogenetics 129(2): 120-123



In the Finnish population, identified mutations in BRCA1 and BRCA2 account for a less than expected proportion of hereditary breast and ovarian cancer. All previous studies performed in our country have concentrated on finding germ-line mutations in the coding and splice-site regions of these two genes. Therefore, we wanted to use a different methodological approach and search for large genomic rearrangements, to exclude the possibility of biased BRCA1 and BRCA2 mutation spectra due to known limitations of the previously used PCR-based detection methods. Our results support earlier notions that other genes than BRCA1 and BRCA2 will explain a majority of the still unexplained cases of hereditary susceptibility to breast and ovarian cancer.

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Accession: 010629365

Download citation: RISBibTeXText

PMID: 11566341

DOI: 10.1016/s0165-4608(01)00437-x


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