Siriwat Wasiksiri and Adisorn Ratanaphan

pp. 509 - 531

Abstract

Breast Cancer Susceptibility Gene1 (BRCA1) is a tumor suppressor gene for breast and ovarian cancers. The gene locates at chromosome 17q21 and encodes for 1863 amino acids protein. It is believed that
BRCA1 protein is involved in many functions such as DNA repair, centrosome replication, cell cycle checkpoint and replication of other genes. More than 800 mutations have been found in the population with an
increased risk of cancer incidence in their families. Germ-line mutation of BRCA1 accounts for 5-10 percent
of all breast cancer cases. Epigenetic modifications also reduce the function of normal BRCA1 gene. Several
methods are used for laboratory diagnosis of cancer-related mutations. The development of breast cancer in
carriers at risk with BRCA1 mutations may be prevented by suitable prevention plans such as breast cancer
screening, ovarian cancer screening, surgery and cancer chemotherapy

Keywords

• BRCA1
• tumor suppressor gene
• mutation
• breast cancer