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Disease Markers
Volume 21, Issue 1, Pages 29-36

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

Petter Frost,1,3 Astanand Jugessur,1 Jaran Apold,1 Ketil Heimdal,1,2 Thomas Aloysius,1 Aud K. Eliassen,1 Lars Fauske,1 Guri Matre,1 and Hans Geir Eiken1

1Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway
2Present address: Section of Genetic Counseling, Department of Cancer Genetics, The Norwegian Radium Hospital, N-0310, Oslo, Norway
3Present address: Institute of Marine Research, P.O. Box. 1870 Nordnes, N-5817 Bergen, Norway

Received 23 February 2005; Accepted 23 February 2005

Copyright © 2005 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 5UTRs 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 found in two of the 61 patients (3.3%). Four haplotypes were established based on nine known single nucleotide polymorphisms. Two patients had a novel deletion (c.-33_-29delAAAAA) in the 5UTR, and a novel amino acid substitution (L523W) was found in one patient. Size variations analysis in the 5UTR was repeated in a cohort of 159 unrelated familial breast/ovarian cancer patients and 94 healthy blood donors. Two patients were identified with 5UTR (c.-30 to -60) variations (CAAAA)5 and (CAAAA)7, instead of the (CAAAA)6-repeat. All of the identified 5UTR size variations were localized between the start codon and the most stable secondary structures previously proposed for the exon 1b transcript. No such alterations were found among the healthy blood donors but association studies of the 5'UTR variations within the respective families were not conclusive.