engleski

BRCA1 and BRCA2 sequence variants in healthy women in Croatia

BRCA1 and BRCA2 are the major genes predisposing to breast and ovarian cancer. Mutations in either of these tumor suppressor genes are associated with both sporadic and hereditary forms of breast cancer. In hereditary cancer, a person inherits one mutated copy of either one of these genes. Tumorigenesis occurs when in addition to having a mutated copy individual develops an inactivating mutation of the remaining healthy allele. Breast cancer is the most common malignant disease of female population, and the second most common malignancy-related cause of death. At least ten percent of cases are attributable to familial inheritance. In Croatia, more than 2200 new cases of breast cancer are diagnosed each year, and about 800 women die of this malignancy. The screening was performed by high resolution melting approach, which is based on differences in melting curves caused by variations in nucleotide sequence ; detected variants were confirmed by direct sequencing. In total, we analyzed 230 samples for BRCA1 gene and 140 samples for BRCA2 gene. We found 21 different sequence variants in BRCA1 (2 novel) and 36 variants in BRCA2 gene (7 novel). We analyzed the distribution and occurrence of sequence variants in BRCA1 and BRCA2 genes on a healthy population of women in Croatia in an attempt to distinguish non-tumorigenic from tumorigenic changes in genomic sequences of BRCA1 and BRCA2 genes. This may contribute to easier distinction of potentially dangerous from harmless changes in patients with family history of breast cancer.

breast cancer ; BRCA1 ; BRCA2

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