Helping Women with Inherited Risk of Breast Cancer

Donor-funded research uncovering new genetic factors

A family history of breast cancer is one of the strongest risk factors for breast cancer. Women with a first-degree relative with breast cancer have an approximately two-fold elevated risk.

“Several studies have suggested that a large percentage of breast cancer can be attributed to genetic factors,” explains Hua Zhao, PhD. Dr. Zhao is a member of the Epidemiology department at Roswell Park Cancer Institute. “In fact, a large study of twins estimated that up to 30% of all breast cancer has a genetic basis.”

Veronica Meadows-Ray knows that firsthand. Her mother and aunt were breast cancer survivors. Veronica was diagnosed with aggressive breast cancer in March 2007, and she sought care from Roswell Park Cancer Institute.

“My doctor and care team were able to restore my belief that living was an option,” says Meadows-Ray.

Dr. Zhao explains that mutations in the known high-risk breast cancer genes (such as BRCA1/2) are common in familial breast cancer. These mutations, however, can only explain at best 20 to 25% of the overall excess familial risk and less than 5% of the total breast cancer incidence. Thus, there are likely a large number of unidentified genetic risk factors that also make women susceptible to the disease. These factors remain to be found, and confer susceptibility to breast cancer.

In order to help find answers, Dr. Zhao has been awarded a grant of donor dollars for new research exploring the roles of rare genetic variations in the development of familial breast cancer.

“We plan to sequence the genomes of selected patients with inherited breast cancer, but who do not possess the BRCA1/2 mutations” she says. “Our goal is to prioritize a list of rare breast cancer risk allele—or genetic imbalances. Then, we will study the associations between selected variants and familial breast cancer risk.”

Dr. Zhao’s research group will then compare the rare variants found in 800 sets of sisters (one sister with cancer and one without). Her team will assess whether the new genetic variants are associated with inherited breast cancer risk.

“To have donations available for this research is an outstanding example of how Roswell supporters are playing a major role in our progress,” she shared. “We are extremely grateful to have this opportunity, which may someday impact millions of women’s lives.”

As for Meadows-Ray, she says she hopes donations continue to help move new studies forward so others can become survivors.

“My story is only one story,” she shares. “Donations help breast cancer patients like me every day, one patient at a time, one success story after another.”

Photo by Douglas Levere