SABCS 2021: Genome-based Data for Breast Cancer Risk and Treatment

In the breast cancer research and clinical communities, one of the biggest events of the year is the San Antonio Breast Cancer Symposium. It’s a place where leaders in the field come together to share the latest advances, discoveries, and validation studies relevant to the treatment of breast cancer.

At this year’s meeting, Myriad Genetics team members will be presenting two posters reporting results from studies that showcase the importance of genetic testing and precision medicine as integral components of both breast cancer treatment recommendations and risk assessment.

Here’s a look at some highlights from each poster.

Identifying homologous recombination deficiency in breast cancer: genomic instability score thresholds differ in breast cancer subtypes
P5-13-09 Poster Session 5, December 10, 2021, 7:00 a.m. – 8:30 a.m. (CST)

Presenter: Kirsten Timms

This poster, from researchers at Myriad Genetics, the Mayo Clinic, Johns Hopkins School of Medicine, Indiana University, and University College Cork, describes the results of a study designed to assess the differences in genomic instability score (GIS) thresholds for triple-negative breast cancer and estrogen receptor-positive breast cancer. The team used the GIS for ovarian cancer as a comparator to guide the identification of potential candidates for treatment with PARP inhibitors. GIS markers highlight the presence of homologous recombination-deficient tumors that may benefit from DNA damaging agents such as PARP inhibitors. Researchers analyzed more than 1,000 tumors and determined that different cancers require different GIS thresholds, and that more inclusive levels could allow more people to receive beneficial PARP treatment.

Integration of an ancestry-inclusive polygenic risk score with the Tyrer-Cuzick breast cancer risk model

P2-11-21 Poster Session 2, December 8, 2021, 5:00 p.m. – 6:30 p.m. (CST)

Presenter: Elisha Hughes

Based on a collaborative team from Cleveland Clinic, University of Pennsylvania, Dana-Farber Cancer Institute, and other institutions, this study validates the integration of an ancestry-inclusive breast cancer polygenic risk score with a clinical and family history-based model in the development of a risk assessment tool for breast cancer. The team reviewed data for nearly 69,000 women, looking for cases where risk would have been reclassified based on the addition of genomic information. They found that risk stratification improved with the incorporation of a polygenic risk score, allowing for personalized five-year and lifetime risk estimates for women of all ancestries.

These posters reflect Myriad Genetics’ ongoing commitment to improve risk prediction and treatment for breast cancer so that women can be empowered to take charge of their health. We congratulate all of the scientists and clinicians who participated in these important studies!