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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants

1 Jul 2020

Abstract excerpt

Uterine leiomyomas (ULs) constitute a considerable health burden in the general female population. The fumarate hydratase (FH) deficient subtype is found in up to 1.6% and can occur in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. We sequenced 13 FH deficient ULs from a previous immunohistochemical screen using a targeted panel and identified biallelic FH variants in all. In eight, we found...

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Share to Ovarian cancer diagnosis and treatment
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32612247
DOI: 10.1038/s41379-020-0596-y

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