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Project Number: | I01BX005358-01A1 |
| 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): |
$706,459 |
| Abstract: |
View full abstract and other project information on NIH RePORTER Go To NIH RePORTER Excerpt: 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... |