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A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer.

Journal article
Authors Zakaria Einbeigi
Annika Bergman
Lars-Gunnar Kindblom
Tommy Martinsson
Jeanne Meis-Kindblom
Margareta Nordling
Mark Suurküla
Jan Wahlström
Arne Wallgren
Per Karlsson
Published in European journal of cancer
Volume 37
Issue 15
Pages 1904-9
ISSN 0959-8049
Publication year 2001
Published at
Pages 1904-9
Language en
Keywords Adult, Aged, Breast Neoplasms, epidemiology, genetics, DNA Mutational Analysis, methods, Female, Founder Effect, Genes, BRCA1, genetics, Humans, Incidence, Middle Aged, Multivariate Analysis, Mutation, Neoplastic Syndromes, Hereditary, epidemiology, genetics, Ovarian Neoplasms, epidemiology, genetics, Polymerase Chain Reaction, methods, Risk Assessment, Survival Rate, Sweden, epidemiology
Subject categories Medical Genetics, Public health medicine research areas


The aim of this study was to describe and characterise a founder mutation of the BRCA1 gene in western Sweden. Of 62 families screened for BRCA mutations, 24 had BRCA1 mutations and two had BRCA2 mutations. Tumours that occurred in family members were histologically reviewed and mutational status was analysed using archival paraffin-embedded tissues. The same BRCA1 mutation, 3171ins5, was found in 16 families who were clustered along the western coast of Sweden. Mutation analysis revealed a maternal linkage in 13 families and a paternal linkage in 3. There was complete agreement between mutation analysis results obtained from blood and archival tissues. The penetrance of breast or ovarian cancer by age 70 years was estimated to be between 59 and 93%. There were no differences in survivals between breast or ovarian cancer patients with the mutation and age-matched controls. Thus, a predominant BRCA1 gene founder mutation associated with a high risk of breast and ovarian cancer has been identified and found to occur in a restricted geographical area, thereby allowing timely and cost-effective mutation screening using blood samples or archival histological material.

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