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A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer
Department of Oncology, Sahlgrenska University Hospital, Göteborg, Sweden, Sweden.
Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden, Sweden.
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden, Sweden.
Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden, Sweden.
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2001 (English)In: European Journal of Cancer, ISSN 0959-8049, E-ISSN 1879-0852, Vol. 37, no 15, p. 1904-1909Article in journal (Refereed) Published
Abstract [en]

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. 

Place, publisher, year, edition, pages
Elsevier, 2001. Vol. 37, no 15, p. 1904-1909
Keywords [en]
BRCA1 gene, Breast neoplasms, Founder effect, Ovarian neoplasms, BRCA1 protein, BRCA2 protein, paraffin, adult, age, aged, article, blood sampling, breast carcinoma, cancer incidence, cancer patient, cancer survival, controlled study, cost effectiveness analysis, disease association, female, gene mutation, genetic analysis, genetic linkage, genetic screening, geographic distribution, high risk population, histopathology, human, human tissue, major clinical study, ovary carcinoma, penetrance, priority journal, Sweden, DNA Mutational Analysis, Genes, BRCA1, Humans, Incidence, Middle Aged, Multivariate Analysis, Mutation, Neoplastic Syndromes, Hereditary, Polymerase Chain Reaction, Risk Assessment, Survival Rate
National Category
Cancer and Oncology
Identifiers
URN: urn:nbn:se:hj:diva-39628DOI: 10.1016/S0959-8049(01)00223-4ISI: 000171188500026PubMedID: 11576847Scopus ID: 2-s2.0-0034813329OAI: oai:DiVA.org:hj-39628DiVA, id: diva2:1211697
Available from: 2018-05-31 Created: 2018-05-31 Last updated: 2018-05-31Bibliographically approved

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