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

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 findin g germ-line mutations in the coding and splice-site regions of these two ge nes. Therefore. we wanted to use a different methodological approach and se arch for large genomic rearrangements. to exclude the possibility of biased BRCA1 and BRCA2 mutation spectra due to known limitations of the previousl y used PCR-based detection methods. Our results support earlier notions tha t other genes than BRCA1 and BRCA2 will explain a majority of the still une xplained cases of hereditary susceptibility to breast and ovarian cancer. ( C) 2001 Elsevier Science Inc. All rights reserved.