Faculty Mentor

Dr. Elaine Vanterpool

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Description

Breast cancer continues to be one of the most life-threatening diseases throughout the world, and various genetic factors play a critical role in its development. While there are a number of gene variants associated with hereditary breast cancer, BRCA1 is an extremely important tumor suppressor gene which is responsible for the maintenance of genomic stability. BRCA1, in addition to BRCA2, is crucial for DNA repair by method of homologous recombination. Together, these genes function to prevent the accumulation of DNA damage which could cause uncontrolled cell growth, leading to the development of tumors. The tumor suppressor protein that the BRCA1 gene produces aids with homologous recombination. During homologous recombination, DNA damage is recognized by kinases ATM and ATR. These kinases then activate downstream proteins, which include BRCA1 and other tumor suppressor genes. These tumor suppressor proteins then coordinate other proteins at the repair site. MRN complex proteins, which are essential for detecting and repairing double strand DNA breaks, process the damage, and other proteins including BRCA2 perform strand invasion. During this process, the sister chromatid is used as a template to accurately repair the break. The encoded BRCA1 protein in addition to other tumor suppressor proteins form the BRCA1-associated genome surveillance complex (BASC). In this way, BRCA1 and BRCA2 are essential to maintaining genomic stability and cancer prevention. BRCA1 variants increase the risk of Hereditary Breast and Ovarian Cancer Syndrome (HBOC). As mutations disrupt the row of regular DNA repair mechanisms, there is a higher likelihood of developing malignant growths within the body. Individuals with a BRCA1 mutation are 60-80% more likely to develop breast cancer, in addition to ovarian, pancreatic, or prostate cancer.

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Tessa Tsoka, Student Reseacher

BRCA1 Variants and Associations With Breast Cancer

Included in

Biology Commons

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