For decades, Piri Welcsh has had professional and personal stakes in understanding the genetics of breast cancer.
In the 1990s, the molecular geneticist participated in an international race to clone BRCA1, the first gene linked to breast cancer risk, and she works to this day in the lab of pioneering breast cancer geneticist Mary-Claire King at the University of Washington.
And then there’s Welcsh’s own family. Her grandmother died of breast cancer, her mother is a breast cancer survivor, and her aunt was just diagnosed with breast cancer.
Since the days of the BRCA1 discovery, researchers have identified more than 100 genes that, in certain forms, raise breast cancer risk. And yet that still leaves many people with elevated familial risk seeking answers. “Some families, like mine, are unsolved,” says Welcsh, who is vice president of education for the support group FORCE: Facing Our Risk of Cancer Empowered. “They seem to have something genetic being passed through generations, yet no mutation identified.”
Researchers hope to offer explanations to many women like Welcsh by broadening their knowledge of the genes and gene variants involved in breast cancer risk through a focus on tiny DNA differences between one person’s genome and the next — variants known as SNPs, or single nucleotide polymorphisms. By so doing, they aim to come to a better understanding of the causes of breast cancer and develop more comprehensive screening panels — and, down the road, perhaps new and more bespoke treatments.
