BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia.
Adv Med Sci
; 59(1): 114-9, 2014 Mar.
Article
em En
| MEDLINE
| ID: mdl-24797986
ABSTRACT
PURPOSE:
In this report, we summarise data on BRCA1 gene analysis in Latvia to characterise criteria of genetic testing for breast and ovarian cancer susceptibility. MATERIAL/METHODS:
Analysis by SSCP/HD, MALDI-TOF mass spectrometry or DNA sequencing was used for mutation detection. Mutations identified were confirmed by direct DNA sequencing.RESULTS:
Out of 1068 breast and 231 ovarian cancer patients from different families 58 carried the c.5266dupC and 43 carried the c.4035delA mutations. Every 4th patient in our study did not report cancer in the family. The breast cancer was diagnosed earlier in carriers of the c.5266dupC than in carriers of the c.4035delA (p=0.003). The incidence of breast or ovarian cancer does not differ among the 2 mutation carriers in our patient group. The nature of the c.5266dupC mutation might be more deleterious.CONCLUSIONS:
We recommend the screening of 4 founder BRCA1 mutations in all breast and ovarian cancer patients in Latvia at diagnosis of disease regardless of family history or age. The BRCA1 screening can be carried out efficiently using the MALDI-TOF mass spectrometry mutation detection method developed in the Biomedical Research and Study Centre (Riga, Latvia).Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
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Neoplasias da Mama
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Proteína BRCA1
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Predisposição Genética para Doença
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Aged
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Aged80
/
Female
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Humans
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Adv Med Sci
Assunto da revista:
MEDICINA
Ano de publicação:
2014
Tipo de documento:
Article