engleski

Molecular diagnostics of inherited breast cancers

The majority of cancers are result of somatic mutations ; but, epidemiological data indicates that 5-10 % of all breast cancers are associated with inherited mutations in the autosomal dominant tumor suppressor susceptibility genes BRCA1 and BRCA2. Carriers of BRCA1 and BRCA 2 mutation are also at increased risk for other cancers: uterine, cervical, early-onset prostate and pancreatic cancer in BRCA1, and male breast, prostate, pancreatic, gallbladder, bile duct, stomach cancers and melanoma in BRCA2. Hereditary breast cancer is characterized by an inherited susceptibility to breast cancer on the basis of identified germline mutation in one allele of those two high penetrance susceptibility genes BRCA1 and BRCA2. Their main contribution to tumorigenesis is inactivation of the second allele and consequently nonfunctional tumor suppression, which would be an early event in the oncogenic pathway of a breast tumor. Unfortunately, every year in Croatia 2300 women develop breast cancer and more than 800 die. The screening for variants in the genes BRCA1 and BRCA2 genes can contribute to an early cancer detection in cases with familiar predisposition. Laboratory for hereditary cancer at Rudjer Boskovic Institute has started the hereditary breast cancer genetic testing. The first screening in Croatia was on elderly healthy women with no family history of cancer. Novel screening method which we developed based on high-resolution melting approach is required for efficient and rapid detection of sequence variants in cancer patients and their family members.

breast cancer ; genes BRCA1 and BRCA2 ; hereditary cancer

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