Genética hereditária: pesquisas atuais

Abstrato

Detection of Gene Mutation in the 185del AG BRCA1 in Families with Hereditary Breast Cancer

Kitsera N, Shparyk YA, Helner N and Logush S

Breast cancer (BC) is one of the most common malignant diseases in which incidence of cancer structure in the female population ranked first, accounting for 19.6% in Ukraine. Aim: The aim of our work was to describe a hereditary breast cancer family case where the affected mother is a carrier of mutation in the 185del AG BRCA1, and her daughter (BRCA-negative) was treated for Hodgkin’s lymphoma. Materials and methods: The material of our study were pedigrees and DNA samples from 128 women diagnosed with BC who had been treated in the Lviv Regional State Cancer Diagnostic Center from June 2008 to December 2012. Molecular-genetic method determined the presence of seven mutations in the gene BRCA1 (185del AG, 4153delA, 5382InsC, 188del11, 5396 +1 G > A, 185InsA, 5331 G > A) and 3 gene mutations in BRCA2 (6174delT, 6293S > G, 6024delTA) by allele-specific polymerase chain reaction. Results: Mutations in the genes BRCA1/2 were found in 6 patients (4.7%) out of 128 women from 120 families diagnosed with BC who were treated. Only in 7 families (5.8%) out of 120 families with BC, we came across relatives who had been diagnosed with lymphoma. Out of the 192 control group families only 2 (1%) were diagnosed with lymphoma, which made a significant difference (5.8% and 1%, χ2=6.05, p<0.01). Family tree which combines BC in an adult woman and HL in a female child: affected mother’s aunt died from BC at age of 50, her cousin in the mother’s line died from BC at the age of 39. Another aunt died at 65 from uterus carcinoma. Father’s brother died from acute leukemia at 68. Conclusion: Studie