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A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques
Department of Clinical Genetics, Göteborg University, Göteborg, Sweden.
Department of Clinical Genetics, Göteborg University, Göteborg, Sweden.
Department of Clinical Genetics, Göteborg University, Göteborg, Sweden.
Department of Clinical Genetics, Göteborg University, Göteborg, Sweden.
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2005 (English)In: Familial Cancer, ISSN 1389-9600, E-ISSN 1573-7292, Vol. 4, no 2, p. 89-96Article in journal (Refereed) Published
Abstract [en]

Dominant inheritance is presumed in 6-10% of breast and ovarian cancers. Mutations in BRCA1 and BRCA2 genes are the most commonly identified causative genes in such families. The frequency of mutation carriers with breast/ovarian cancer depends on the population studied, and display considerable variation that coincides with ethnic and geographical diversity. Mutation analyses were performed in 143 families registered at the Cancer Genetic Counseling Clinic of western Sweden. In a thorough mutation screening procedure, the entire BRCA1 and BRCA2 genes were analyzed using a combination of complementary mutation detection techniques. Mutations in either BRCA1 or BRCA2 were detected in 36% (52 out of 143) of all screened families. All families were clinically evaluated regarding age at diagnosis, type of cancer and number of cancer cases in the family. Among high-risk families, the mutation detection rate was 39% (46 out of 117). The detection rate observed among families with cases of ovarian cancer (42 out of 62, 68%), was substantially higher than in families with only breast cancer (10 out of 81, 12%). Age at ovarian cancer did not seem to have an effect on the detection rate. The analyses revealed 11 frameshift mutations, 4 nonsense mutations and 2 large deletions. Notably, the BRCA1 c.3171ins5 mutation accounted for 34 of 52 (65%) identified mutations. Seven mutations are novel: BRCA1c.409_410del; c.1912T>G; c.2228_2229del; c.3029delA; c.3433delA, a large deletion covering exons 1-3 of BRCA1and one BRCA2 mutation; BRCA2c.6287_6290del. We have shown that the founder mutation BRCA1 c.3171ins5 has a great influence on western Swedish breast/ovarian cancer families along with a high number of mutations unique for the region. In order to achieve a high mutation detection rate we suggest a combination of several detection techniques. 

Place, publisher, year, edition, pages
Springer, 2005. Vol. 4, no 2, p. 89-96
Keywords [en]
BRCA1, BRCA2, Breast/ovarian cancer, Cancer, Founder mutation, MLPA, Mutation detection and mutation screening, BRCA1 protein, BRCA2 protein, adult, age distribution, aged, analytic method, article, breast cancer, cancer center, comparative study, controlled study, exon, family, female, frameshift mutation, gene deletion, gene mutation, genetic analysis, genetic screening, high risk population, human, major clinical study, nonsense mutation, nucleotide sequence, ovary cancer, priority journal, Sweden, Breast Neoplasms, DNA Mutational Analysis, Founder Effect, Genes, BRCA1, Genes, BRCA2, Germ-Line Mutation, Heterozygote, Humans, Incidence, Inheritance Patterns, Middle Aged, Ovarian Neoplasms
National Category
Cancer and Oncology
Identifiers
URN: urn:nbn:se:hj:diva-39625DOI: 10.1007/s10689-004-5812-2ISI: 000233801600004PubMedID: 15951958Scopus ID: 2-s2.0-21244445093OAI: oai:DiVA.org:hj-39625DiVA, id: diva2:1211711
Available from: 2018-05-31 Created: 2018-05-31 Last updated: 2018-05-31Bibliographically approved

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