title: Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, University of Oulu/Oulu University Hospital, P.O. Box 22, FIN-90220, Oulu, Finland.
authors.forename: J
authors.initials: J
authors.lastname: Lahti-Domenici
authors.forename: K
authors.initials: K
authors.lastname: Rapakko
authors.forename: K
authors.initials: K
authors.lastname: Pääkkönen
authors.forename: M
authors.initials: M
authors.lastname: Allinen
authors.forename: H
authors.initials: H
authors.lastname: Nevanlinna
authors.forename: M
authors.initials: M
authors.lastname: Kujala
authors.forename: P
authors.initials: P
authors.lastname: Huusko
authors.forename: R
authors.initials: R
authors.lastname: Winqvist
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein; D015139:Blotting, Southern; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005190:Family; D005260:Female; D005387:Finland / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors