Complete Mutation Screening and Haplotype Characterization of the BRCA1 Gene in 61 Familial Breast Cancer Patients from Norway

@inproceedings{Frost2005CompleteMS,
  title={Complete Mutation Screening and Haplotype Characterization of the BRCA1 Gene in 61 Familial Breast Cancer Patients from Norway},
  author={Petter Frost and Astanand Jugessur and Jaran Apold and Ketil Heimdal and Thomas Aquinas Aloysius and A Heather Eliassen and Lars Fauske and Guri E Matre and Hans Geir Eiken},
  booktitle={Disease markers},
  year={2005}
}
Mutations in the Breast-Cancer-1 (BRCA1) gene are the major cause of familial breast/ovarian cancer. Among familial breast cancer only, 15-20% have been suggested to have a deleterious mutation in BRCA1. A highly sensitive method (REF-SSCP) was applied to screen the open reading frame and the 5'UTRs of BRCA1 for mutations. The patient cohort comprised 61 unrelated moderate to high risk breast cancer patients from Western-Norway. Only one known deleterious BRCA1 mutation (c.816-817delGT) was… CONTINUE READING