Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome
Abstract Background Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC), caused by heterozygous germline pathogenic variants in the FH, confers an increased risk for cutaneous and uterine leiomyomas and renal cancer. Methods About 13,722 advanced cancer patients, including 560 with rena...
Main Authors: | Kelsey E. Breen, Maria I. Carlo, Yelena Kemel, Anna Maio, Ying‐Bei Chen, Liying Zhang, Ozge Ceyhan‐Birsoy, Diana Mandelker |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-08-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1293 |
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