It’s All in the Genes: Germline Effects on Breast Cancer Treatment

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Holly Magliochetti

Genetics Institute of America

Genetics Institute of America (GIA) is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes.  

 

It’s All in the Genes: 

Germline Genetic Testing Affects Locoregional and Systemic Treatment of Breast Cancer Patients

October 26, 2022

DELRAY BEACH, FL – Germline genetic testing can inform treatment decisions for breast cancer patients, but data has not been compiled about those treatment decisions. With an increase in testing, researchers and physicians want to further understand treatment trends, especially when considering surgery, radiation, and chemotherapy.

A recent study, which included researchers from Stanford University, Emory University, University of Michigan, University of Southern California, and Memorial Sloan-Kettering Cancer Center, wanted to find a correlation between germline testing and resulting treatment decisions. The data showed that “women with germline pathogenic variants in breast cancer susceptibility genes [were] found to have different patterns of breast cancer treatment…notably, greater use of bilateral mastectomy in patients who were eligible for unilateral surgery; lower use of postlumpectomy radiotherapy among those indicated for radiotherapy; and greater use of chemotherapy in patients eligible to consider omitting chemotherapy (early-stage, ER/PR-positive disease).”1 These treatment patterns do not appear to follow practice guidelines, especially for radiotherapy and chemotherapy; however, the researchers admit the lack of data on why the physicians and patients chose specific courses of treatment.

With more research to be done, this preliminary study shows that treatment decisions are being affected by a patient’s germline status. As germline testing becomes more prevalent and reaches standard of care, it will become more important to understand how decisions are made around this information. Long-term outcomes, including survival rate, as a result of these decisions needs to be further evaluated.

  1. Kurian AW, Ward KC, Abrahamse P, et al. Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer. JAMA Oncol. 2020;6(4):e196400. doi:10.1001/jamaoncol.2019.6400
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