Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families
| Autor: | Martinus F. Niermeijer, Hanne Meijers-Heijboer, Mma Tilanus-Linthorst, M.M. van Veghel-Plandsoen, Anja Wagner, L.C. Verhoog, A. M. W. Van Den Ouweland, I. L. Van Staveren, D. J. J. Halley, Caroline Seynaeve, C.C.M. Bartels, E. Berns, Peter Devilee, J. G. M. Klijn |
|---|---|
| Přispěvatelé: | Medical Oncology, Clinical Genetics, Ophthalmology, Radiology & Nuclear Medicine, Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
Oncology
Adult Cancer Research medicine.medical_specialty Population DNA Mutational Analysis Genes BRCA2 Genes BRCA1 Breast Neoplasms Biology medicine.disease_cause Genetic determinism Breast cancer SDG 3 - Good Health and Well-being Neoplastic Syndromes Hereditary Internal medicine medicine Prevalence Cluster Analysis Humans Age of Onset education skin and connective tissue diseases Aged Netherlands Genetics Aged 80 and over Ovarian Neoplasms Mutation education.field_of_study Cancer DNA Neoplasm Middle Aged medicine.disease Founder Effect Pedigree Female Age of onset Ovarian cancer Founder effect |
| Zdroj: | European Journal of Cancer, 37, 2082-2090. Elsevier Ltd. European journal of cancer (Oxford, England, 37(16), 2082-2090. Elsevier Limited |
| ISSN: | 0959-8049 |
| DOI: | 10.1016/s0959-8049(01)00244-1 |
| Popis: | In 517 Dutch families at a family cancer clinic, we screened for BRCA1/2 alterations using the Protein Truncation Test (PTT) covering approximately 60% of the coding sequences of both genes and direct testing for a number of previously identified Dutch recurrent mutations. In 119 (23%) of the 517 families, we detected a mutation in BRCA1 (n=98; 19%) or BRCA2 (n=21; 4%). BRCA1/2 mutations were found in 72 (52%) of 138 families with breast and ovarian cancer (HBOC), in 43 (13%) of the 339 families with breast cancer only (HBC), in 4 (36%) of 11 families with ovarian cancer only (HOC), and in nine of 29 families with one single young case ( |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect