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The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation
Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Mathematical Statistics, Chalmers University of Technology, Göteborg University, Göteborg, Sweden.
Department of Mathematical Statistics, Chalmers University of Technology, Göteborg University, Göteborg, Sweden.
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2001 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 9, no 10, p. 787-793Article in journal (Refereed) Published
Abstract [en]

The most recurrent BRCA1/BRCA2 mutation in Sweden is the BRCA1 mutation 3171ins5. In the western part of Sweden this mutation accounts for as much as 77% of identified mutations in these two genes. Our aim was to analyse in detail the haplotype and founder effects of the 3171ins5 and furthermore attempt to estimate the time of origin of the mutation. In the study we included eighteen apparently unrelated families with hereditary breast and/or ovarian cancer. At least one individual in each family had previously tested positive for the 3171ins5 mutation. Polymorphic microsatellite markers were used for the haplotype analyses. The markers were located within or flanking the BRCA1 gene spanning a region of 17.3 cΜ. We found several different haplotypes both for disease alleles and for the normal alleles. However, a conserved haplotype of 3.7 cΜ was observed in the 3171ins5 carriers spanning over four markers located within or very close to the BRCA1 gene. As this haplotype was not present in any of the normal controls it is highly likely that this is a mutation identical by descent, i.e. a true founder. The results from the haplotype analyses were used to estimate the age of the mutation. Estimations based on the Pexcess and linkage disequilibrium gives a first appearance of the mutation sometime around the 6th century, approximately 50 generations ago.

Place, publisher, year, edition, pages
Nature Publishing Group, 2001. Vol. 9, no 10, p. 787-793
Keywords [en]
BRCA1 gene, Breast neoplasm, Founder effect, Haplotype, Ovarian neoplasm, BRCA1 protein, BRCA2 protein, microsatellite DNA, age, allele, article, breast cancer, clinical observation, controlled study, familial cancer, family, gene linkage disequilibrium, gene mutation, genetic conservation, genetic polymorphism, heterozygote, human, ovary cancer, phylogeny, priority journal, Sweden, time, Breast Neoplasms, Conserved Sequence, DNA Mutational Analysis, Female, Geography, Haplotypes, Humans, Male, Microsatellite Repeats, Mutagenesis, Insertional, Mutation, Pedigree, Time Factors
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Medical Genetics
Identifiers
URN: urn:nbn:se:hj:diva-39627DOI: 10.1038/sj.ejhg.5200704ISI: 000172127700010PubMedID: 11781691Scopus ID: 2-s2.0-0034748570OAI: oai:DiVA.org:hj-39627DiVA, id: diva2:1211692
Available from: 2018-05-31 Created: 2018-05-31 Last updated: 2018-05-31Bibliographically approved

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