BRCA1 and BRCA2 mutations may contribute to early-onset breast cancer in Germany.

2003 AUG 7 - (NewsRx.com & NewsRx.net) -- BRCA1 and BRCA2 mutations may contribute to early-onset breast cancer in Germany.

"This study was undertaken to investigate the prevalence of BRCA1 and BRCA2 germline mutations in 91 German patients unselected for family history, who were diagnosed with breast cancer before the age of 41 years," scientists writing in the European Journal of Human Genetics report.

"Clinical information and blood samples were obtained from all patients. A comprehensive BRCA1 and BRCA2 mutational analysis was performed using the protein truncation assay and single-strand conformational polymorphism analysis followed by DNA sequencing of variant signals detected by these assays," wrote U. Hamann and colleagues, Deutsch Krebsforschungszentrum, Division of Molecular Genome Analysis.

"Five different deleterious germline mutations including four frameshift mutations and one missense mutation were identified, three in BRCA1 (3.3%) and two mutations (2.2%) in BRCA2. Both BRCA2 mutations are novel and might be specific for the German population," the researchers wrote.

"An additional BRCA1 missense mutation previously described and classified as an unknown variant was found. This mutation was also detected in two breast cancer patients of family P 328 and not in 140 healthy controls suggesting that it ...