It’s All in the Genes: Germline Testing for Breast Cancer Survivors

Have Any Questions?


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 Testing for Breast Cancer Survivors

Breast Cancer Survivors

Should I offer germline genetic testing to my patient that is a breast cancer survivor?

April 20, 2022

DELRAY BEACH, FL – As knowledge increases about the clinical utility of germline testing and BRCA-status for patients with early breast cancer, it is also important that this vital treatment and prevention tool is offered to breast cancer survivors, as well. The American Society of Clinical Oncology and the American Cancer Society both recommend that doctors revisit for breast cancer survivors for concerns including, recurrence and menopausal symptom management.

A new study from the Royal Marsden Hospital in London found that approximately 65 percent of breast cancer patients that qualified were not offered germline testing. This was testing that could have affected these patients’ treatment outcome and could determine their risk for future diagnoses. “The survivorship setting provides an opportunity for genetic review underpinned by collaborative working between cancer specialists and the genetics team.”1

Survivor testing can also trigger cascade testing of family members and the dissemination of results to relatives. Germline testing for family members that are closely related to a BRCA-positive patient should also be offered testing and genetic counseling. If the family members test positive, they are able to follow a similar prevention plan as their surviving relative. The cascade testing method can also bring reassurance to family members when no pathogenic variants are identified.

As genomics increasingly impacts cancer care and survivorship, achieving 100 percent genomic testing in breast cancer patients and survivors is essential for bettering patient outcomes and treatment effectiveness.

  1. Wiggins J, McLoughlin A, George A, Ring A, Kemp Z. Germline BRCA1and BRCA2 testing for breast cancer survivors. J Med Genet. 2020;57(8):528-530. doi:10.1136/jmedgenet-2019-106420
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