BRCA1/2 mutations in Swiss patients with familial or early-onset breast and ovarian cancer.
Swiss Med Wkly
; 131(15-16): 223-6, 2001 Apr 21.
Article
em En
| MEDLINE
| ID: mdl-11400546
ABSTRACT
QUESTIONS UNDER STUDY Germ-line alterations in BRCA1 and BRCA2 genes account for 30-50% of all forms of familial breast and ovarian cancer syndromes. Specific mutations in specific populations and ethnic groups have been identified in BRCA1 and BRCA2. However, it is not known whether such specific mutations prevail in the Swiss population. METHODS:
We started to screen patients with primary breast and ovarian cancer and a strong family history of both cancers by sequencing the full-length coding regions of BRCA1 and BRCA2.RESULTS:
With the selection criteria used in this study we identified 19 mutations in the first 38 patients screened (50%). These mutations were either defined as deleterious and resulted in a protein truncation (n = 10) or were defined as unclassified variants (n = 9). One novel truncating mutation was found in BRCA2 and two novel unclassified variants were detected in BRCA1. These three mutations are not described in the BIC and HGMD databanks.CONCLUSIONS:
We detected three unknown mutations among 38 patients in a Swiss study of BRCA1/2 mutation patterns. One of these novel mutations is clearly deleterious as it leads to protein truncation at nucleotide 133 of BRCA2.
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Bases de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Fatores de Transcrição
/
Neoplasias da Mama
/
Testes Genéticos
/
Genes Supressores de Tumor
/
Genes BRCA1
/
Mutação
/
Proteínas de Neoplasias
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Swiss Med Wkly
Assunto da revista:
MEDICINA
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Suíça