BRCA1 – BRCA2 Mutation Analysis

Breast cancer is one of the significant causes of premature death in woman. One of every eight woman experience breast cancer in some period of their lifes. Epidemiological studies shows that cancer is related with genetic disorder in 36% of patients especially under the age of 30 who are diagnosed breast cancer. This fact increases the chance of early diagnosis and treatment of breast cancer.

Affymetrix GeneChip BRCA1-BRCA2 Re-sequencing Arrays enable detection of mutated genes that causes cancer, by sequence analysis in cancer patients.

In breast cancer, BRCA1 and BRCA2 genes are considered to be effected from hereditary factors about 5-10%. BRCA1 and BRCA2 are major tumor supressor genes. Mutation in these two genes are known to be responsible for about 40% of hereditary breast cancer.

Into Affymetrix GeneChip BRCA1-BRCA2 Re-sequencing Arrays other breast cancer related gene sequences synthetized, such as TP53 (tumor protein p53), PALB2 (partner and localizer of BRCA2), CHEK2 (CHK2 checkpoint homology (S. pombe)), ATM (ataxia telangiectasia mutated), PTEN (phosphatase and tensin homology ), and MTDNA (human mitochondrial DNA) rather than BRCA1 and BRCA2. By the results of 300kb of sequence analysis whole homozygous SNPs and heterozygous SNPs can be detected.