Funded Project Details - FY2021
|Title:|| Functional profiling of germline SDH variants associated with cancer susceptibility|
Michael C. Heinrich
|Congressional District Code:
||Biomedical Laboratory R&D
|| April 2021 -
|FY 2021 Funding Amount:
|Total Award Amount
View full abstract and other project information on NIH RePORTER
Go To NIH RePORTER
Objectives: Loss-of-function (LOF) mutations in SDHA or SDHB result in SDH-deficiency and increase the lifetime risk for developing a number of cancers, including GI stromal tumors, paraganglioma, pheochromocytoma, renal cell carcinoma, and breast cancer. In most cases, tumors with these mutations arise in the setting of a heterozygous germline mutation, which is heritable. In patients with a known pathogenic SDHA or B mutation, genetic counseling (to screen other family members) and enhanced ca...
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