Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Breast Cancer

Ambry Genetics and the Mayo Clinic recently collaborated on the publication of “The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer from a Clinical Genetic Testing Cohort” in JNCI: The Journal of the National Cancer Institute (April 2020).

Interested in hearing about the study from one of its authors? Dr. Siddhartha Yadav from Mayo Clinic walks viewers through:

  • The background
  • How the study was performed
  • What the study found
  • Clinical relevance of the study findings
  • Conclusions



The study evaluated the clinical histories and genetic testing results of nearly 55,000 women with breast cancer who underwent multigene panel testing (germline testing) at Ambry Genetics to test whether the frequency of germline mutations in breast cancer predispositions are different by different clinical subtypes. (ER and HER2 status)

Who will this study help? Women who already have breast cancer and are being referred for germline testing, and women who are thought to be carriers of a mutation, but don’t currently have cancer. The authors of the study hope their findings will lead to a more personalized approach to germline genetic testing and breast cancer risk assessment. 


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