Genetic epidemiology of BRCA mutations – family history detects less than 50% of the mutation carriers
| Autor: | Eivind Hovig, Kjell Løvslett, Pål Møller, Lovise Mæhle, Jaran Apold, Anne Irene Hagen, Neal Clark, Anita Vabø, Bent Fiane |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Heterozygote Cancer Research medicine.medical_specialty Genes BRCA2 Population Genes BRCA1 Breast Neoplasms Biology Breast cancer Internal medicine medicine Humans Genetic Testing Family history education Aged Genetic testing Ovarian Neoplasms Genetics education.field_of_study medicine.diagnostic_test Norway Genetic Carrier Screening Incidence Incidence (epidemiology) Middle Aged medicine.disease Pedigree Oncology Genetic epidemiology Mutation Mutation (genetic algorithm) Mutation testing Female |
| Zdroj: | European Journal of Cancer. 43:1713-1717 |
| ISSN: | 0959-8049 |
| DOI: | 10.1016/j.ejca.2007.04.023 |
| Popis: | Ten BRCA mutations were demonstrated to be frequent in the Norwegian population. We present maps verifying the uneven distribution of prevalences according to municipality. We tested incident breast cancer cases treated in Mid-Norway from 1999 onwards for these mutations. Uptake of testing was 97% and 2.5% were demonstrated to be mutation carriers. Ten (77%) were outside families previously known to carry a mutation. Ten (77%) did not meet clinical criteria to be selected for mutation testing. We tested incident ovarian cancer cases in South-West Norway from 2001 onwards. Uptake of testing was 80% and 23% were mutation carriers. Twenty-one (88%) were outside families previously known. Twelve (67%) did not meet clinical criteria to be selected for testing. All patients with mutation collaborated actively to give our offer of predictive genetic testing to their relatives. No complaint on the activity was received. |
| Databáze: | OpenAIRE |
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