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Funded Project Details - FY2021

Project Number:

Title: Functional profiling of germline SDH variants associated with cancer susceptibility
Principal Investigator:

Michael C. Heinrich

Location: Portland, OR
Congressional District Code: 3
Research Service: Biomedical Laboratory R&D
Project Period: April 2021 - March 2025
FY 2021 Funding Amount: $124,995
Total Award Amount
(all years):
Abstract: View full abstract and other project information on 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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