Molecular genetics, diagnosis and treatment of breast cancer: review article

ABSTRACT

Breast cancer is the most common cancer among women, and one out of 8 or 10 women is diagnosed with breast cancer. This type of cancer is an extremely heterogenous disease, which is classified into multiple categories including LCIS [Lobular carcinoma in situ], DCIS [Ductal carcinoma in situ], and invasive carcinoma. BRCA1 and BRCA2 are two major high-risk genes associated with hereditary breast cancer. Mutations in CHEK2 gene also contribute to a substantial fraction of familial breast cancer. Susceptibility alleles in other genes are also rare causes of breast cancer. More than 1000 mutations have been identified in BRCA1 and BRCA2, and molecular assays for detecting mutations in these genes are now well established. Mutations in BRCA1 and BRCA2 cause genomic instability, which leads to alterations in additional key genes including tumor suppressor genes and/or oncogenes