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 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.
Lahti-Domenici
J
J
Department of Clinical Genetics, University of Oulu/Oulu University Hospital, P.O. Box 22, FIN-90220, Oulu, Finland.
Rapakko
K
K
Pääkkönen
K
K
Allinen
M
M
Nevanlinna
H
H
Kujala
M
M
Huusko
P
P
Winqvist
R
R
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*
D019313:BRCA1 Protein; D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors