BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia |
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| Affiliation: | 1. Genome Centre, Latvian Biomedical Research and Study Centre, Riga, Latvia;2. Latvian Oncology Centre, Riga, Latvia;3. Oncology Clinic of the Hospital “Piejuras slimnica”, Liepaja, Latvia;4. Faculty of Medicine, University of Latvia, Riga, Latvia;1. Department of Hematology-Oncology, Medical College of Wisconsin, Milwaukee, WI;3. Department of Pathology, Medical College of Wisconsin, Milwaukee, WI;4. Department of Radiology, Medical College of Wisconsin, Milwaukee, WI;2. Blood Research Institute, Blood Center of Wisconsin, Milwaukee, WI;1. Department of Biology, Lund University, Lund, Sweden;2. Department of Medical Biology, Institute of Rural Health, Lublin, Poland;1. Department of Otolaryngology, Jagiellonian University Medical College, Cracow, Poland;2. Jerzy Haber Institute of Catalysis and Surface Chemistry, Polish Academy of Sciences, Cracow, Poland;1. Department of Prosthodontics, Medical University of Bialystok, Bialystok, Poland;2. Department of Gynecology, Medical University of Bialystok, Bialystok, Poland;3. Department of Medical Pathomorphology, Medical University of Bialystok, Bialystok, Poland;1. Department of Laboratory Diagnostics, Poznan University of Medical Sciences, Poznan, Poland;2. Department of Internal Medicine, Metabolic Disorders and Hypertension, Poznan University of Medical Sciences, Poznan, Poland |
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| Abstract: | PurposeIn this report, we summarise data on BRCA1 gene analysis in Latvia to characterise criteria of genetic testing for breast and ovarian cancer susceptibility.Material/methodsAnalysis by SSCP/HD, MALDI-TOF mass spectrometry or DNA sequencing was used for mutation detection. Mutations identified were confirmed by direct DNA sequencing.ResultsOut 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.ConclusionsWe 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). |
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| Keywords: | Age at diagnosis Cancer Latvia Mass spectrometry |
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