From Genome to Life:

SMITE Dagnija

Biomedical Research And Study Centre, Univarsity of Latvia Ratsupites 1, Riga LV-1067, Latvia

title: Genetic testing for brca1 breast cancer susceptibility mutations in latvia

Breast cancer is the most common form of cancer in adult women and it is leading cause of death from cancer in Latvia. Mutations in the BRCA1 and BRCA2 genes, identified in the result of genetic analysis of families with multiple cases of breast and ovarian cancers, play an important role in the development of hereditary cancer cases. Typical feature of families with autosomal dominant breast cancer are several cancer cases in successive generations, early onset of diseases and in some families both breast and ovarian cancer cases. Identification of mutation carriers is important for women to make more informed decisions about their medical management and is available in many countries now. Our study the prevalence of BRCA1 mutations in breast cancer patients from Latvian Oncology Center. The criteria for genetic testing was not very strong and women with at least one relative with breast/ovarian cancer or with early onset of disease were enclosed in the study. BRCA1 gene was screened for mutations in all coding sequence and 5'- and 3'- flanking intronic sequences of each exon by SSCP/HD analysis and direct sequencing of variants detected. It was detected that some highly prevalent founder mutations account for vast majority of BRCA1-associated cases. Some rare and one new deleterious mutation in BRCA1 gene was detected as well. Overall our data facilitate the genetic testing and help to optimize the inclusion criteria for testing in Latvian population.