Germline Mutations and Variants in SDH Genes in Cowden and Cowden-like Syndromes


Charis Eng, MD, PhD
Frank Weber, MD


What is it? What does it do?

The invention includes a means of using mutational variants in the succinate dehydrogenase gene (SDH) for diagnosis and prognosis of those who have heightened risk for breast, thyroid and renal neoplasms when presenting with a PTEN mutation negative, Cowden Syndrome/Cowden-like syndrome (CS/CSL) germline background.

Why is it better?

  • Instructs first associations of germline variations in SDHx genes as candidate predisposing and modifier genes for CS/CSL-related malignancy risks.
  • In heritable cancer syndromes this is the first clinically useful modifier (SDHx variants) of a germline PTEN mutation especially for breast cancer risk. Importantly, if a patient has a germline PTEN mutation, they have an 85% lifetime risk of female breast cancer.  However, a treating clinician cannot say she will be that 85% of that 15%. With a germline SDH variant together with a germline PTEN mutation, the lifetime risk of female breast cancer is 100% - which approaches a long sought prognostic holy grail for medical geneticists.

What is its current status?

Prototype assay developed

IP Status





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