In recognition of her trailblazing work in clinical cancer genetics, Judy E. Garber, MD, MPH, received the Susan G. Komen^® Brinker Award for Scientific Distinction in Clinical Research on Tuesday at SABCS 2021. In her award lecture, Breast Cancer Genetics Comes of Age, she highlighted some of the most significant historical and emerging advances in the field.

The year 1990 proved to be a pivotal year for breast cancer, as Dr. Garber explained. It was the year Mary-Claire King, PhD, mapped the BRCA1 gene. Just four years later, the gene was cloned, followed soon after by BRCA2. Since these groundbreaking discoveries, the criteria and tools for genetic testing in breast cancer have evolved.

“In the early days, we used to think about what was the probability that a mutation would be identified as the main driver, and now we also think so much about how we would use the information,” said Dr. Garber, Director of the Center for Cancer Genetics and Prevention at the Dana-Farber Cancer Institute and a Professor of Medicine at Harvard Medical School.

Today, all breast cancer patients younger than 45 can be tested for a pathogenic variant, she said. For patients younger than 50, family history may help make that determination, while for patients younger than 60, triple-negative breast cancer would be a determining factor.

The testing criteria also have expanded beyond family history segments, such as Ashkenazi Jewish heritage or a history of male breast cancer, that have been considered in the past to include personal or family history of ovarian, pancreatic, and metastatic or advanced prostate cancer.

“The technology changed in 2012 and went to next-generation sequencing, which made it possible to identify pathogenic variants that would have been missed by the Sanger sequencing,” Dr. Garber said. This means patients tested prior to the implementation of this advanced technology could consider repeat testing.

New research, including the phase 3 results from the Olaparib as Adjuvant Treatment in Patients With Germline BRCA Mutated High Risk HER2 Negative Primary Breast Cancer (OlympiA) trial released in earlier this year, continues to shed new light on the clinical implications of the data gleaned from genetic testing.

“With the findings of OlympiAD (Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations) and EMBRACA (A Study Evaluating Talazoparib (BMN 673), a PARP Inhibitor, in Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation), we went looking for germline variants in individuals who had met criteria for treatment in their first or second line of therapy with a PARP inhibitor,” Dr. Garber said. “And then, just this past summer with the publication of OlympiA and the advantage for the adjuvant treatment of a subset of high-risk patients with BRAC1 or BRCA2 mutations, the idea that genetic testing should be used at diagnosis to help determine treatment is now made official.”

OlympiA, for which Dr. Garber was a co-principal investigator, compared Olaparib versus placebo in 1,836 BRCA1 and BRCA2 mutation carriers. The participants received their adjuvant or neoadjuvant therapy, including surgery and radiation, before randomization. The study was stopped early because of the improvement in invasive disease-free and distant disease-free survival rates.

A recording of Dr. Garber’s lecture will be available to registered symposium participants for on-demand viewing until March 10, 2022.