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Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing

1 Nov 2021

Abstract excerpt

BACKGROUND: Germline variants in fumarate hydratase (FH) are associated with autosomal dominant (AD) hereditary leiomyomatosis and renal cell cancer (HLRCC) and autosomal recessive (AR) fumarase deficiency (FMRD). The prevalence and cancer penetrance across different FH variants remain unclear. METHODS: A database containing 120,061 records from individuals undergoing cancer germline testing was obtained. FH...

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PMID: 34724198
DOI: 10.1002/cncr.33997

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