The Duality of the BARD1 Gene

Authors

Elaine Vanterpool, Oakwood University
Khadra Burden, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

Breast cancer is the 2nd most diagnosed cancer in women in the United States (Mayo Clinic). Cancer is the overproduction of cells. In other words, cancer-infected cells continue to grow and may cause large growths called tumors. Although there have been innumerable strides in breast cancer research, the exact cause for breast cancer is not yet known (Mayo Clinic). It is believed that factors such as family history of the disease, early menstruation age, and obesity can increase an individual’s chances of having breast cancer. One of the well-known genes associated with breast cancer is BRCA1. A much less researched gene associated with breast cancer is BARD1 (BRCA1 associated ring domain 1). ClinVar identified the BARD1 gene to be connected to breast cancer, and over 1000 missense variants. Most of the variants had uncertain/conflicting clinical significance. ClinVar also identified the single nucleotide variants Pro7Ser and Cys71Tyr as missense mutations linked to BARD1. Pro7Ser had an uncertain/conflicting clinical significance and Cys71Tyr was classified as pathogenic. SIFT and PolyPhen2, bioinformatics software, determined that the Cys71Tyr mutation is probably damaging, and the Pro7Ser mutation is benign. The BARD1 gene’s FASTA sequence was placed into the SWISS-Model software to create a 3D protein model. These findings further support previous studies on the correlation between familial breast cancer and the BARD1 gene.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Burden, Khadra, "The Duality of the BARD1 Gene" (2025). Student Posters. 56.
https://ouscholars.oakwood.edu/student-posters/56