Analysis of alterations in genes responsible for onset of hereditary forms of breast and ovary cancer

Project leader: Miroslav Tomka
Project duration: 2006 - 2008

The breast and ovary carcinomas are the most frequent cause of cancer death in women. Approximately 10% of all cases show features of autosomal dominant disorder with high penetrance. Its transfer in affected families points to the existence of genetic predisposition. Based on genetic observations, at least two genes participated in initiation of tumorigenesis were identified – BRCA1 and BRCA2. Moreover, TP53, K-ras, and APC genes with lower penetrance are considered in term of initiation of breast and ovary tumorigenesis. The results from present studies point to the correlation between CHEK2 gene mutations and increased risk of development mammary as well as colorectal carcinomas. The germline mutations in mentioned genes are detected by the specific molecular-genetic techniques which allow early detection of predisposition to these cancers even in pre-clinical stages. Using these methods, well established in our laboratory, we will study of genotype-phenotype correlations in affected families. Obtained results will be granted to physicians in order to estimate the further prognosis and therapy for individual patients.

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