BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia
| Autor: | Janis Eglitis, Laima Tihomirova, Guntars Keire, Anna Krilova, Mihails Timofejevs, Marcis Leja, Olga Sinicka, Janis Petrevics, Iveta Vaivade, Oksana Fokina, Ilona Mandrika, Raitis Peculis, Aivars Stengrevics |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Oncology medicine.medical_specialty Breast Neoplasms Disease medicine.disease_cause Polymerase Chain Reaction Breast cancer Internal medicine medicine Humans Genetic Predisposition to Disease Family history skin and connective tissue diseases Polymorphism Single-Stranded Conformational Aged Genetic testing Aged 80 and over Ovarian Neoplasms Mutation medicine.diagnostic_test BRCA1 Protein business.industry Cancer Single-strand conformation polymorphism DNA Neoplasm General Medicine Middle Aged Prognosis medicine.disease Latvia Female business Ovarian cancer Follow-Up Studies |
| Zdroj: | Advances in Medical Sciences. 59:114-119 |
| ISSN: | 1896-1126 |
| DOI: | 10.1016/j.advms.2013.09.002 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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