Paul Goodfellow, MS, PhD
Ohio State University
Role of BRIP1 helicase missense mutations in ovarian cancer
BRIP1 gene has recently been recognized as an ovarian cancer susceptibility gene, based primarily on discovery of mutations that result in a truncated, or shortened, BRIP1 protein that no longer functions properly. Most genetic variation in the BRIP1 gene, however, does not lead to a shortened form of the protein, but some variants may still lead to protein dysfunction. Dr. Goodfellow will determine which BRIP1 gene variants have disrupted BRIP1 protein function and mostly likely could result in the development of ovarian cancer by developing mouse strains carrying defective Brip1 genes to study how certain mutant proteins lead to ovarian tumors. Together, these studies will allow for new approaches to prevent and treat ovarian cancer.