Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M195V
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FH

NM_000143.4:p.M195V

Associated Papers

Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases.

Liu Y et al.

The Journal of Pathology, 2026

A Case of a Fumarate Hydratase Deficient Astrocytoma in Association With a Germline Fumarate Hydratase Mutation With Review of the Literature: Considerations for Patients With Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome.

Alfattal R et al.

The American Journal of Surgical Pathology, 2026

Fumarate hydratase-mutant glioma with giant-cell histology, MSH6 mutation, and hypermutation.

Mafficini A et al.

Journal of Neuropathology and Experimental Neurology, 2025

Long survival in a patient with fumarate hydratase mutation-associated glioma.

Reimann RR et al.

Journal of Neuropathology and Experimental Neurology, 2025

Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.

Kipnis LM et al.

Cancer Prevention Research (philadelphia, Pa.), 2024

Mutations of FH and IDH may induce gliomagenesis by similar mechanisms.

Raghunathan A et al.

Journal of Neuropathology and Experimental Neurology, 2022

Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.

Uimari O et al.

Acta Obstetricia Et Gynecologica Scandinavica, 2021

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

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_ClinVar

Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.

da Cunha IW et al.

Virchows Archiv : an International Journal of Pathology, 2018

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Kämpjärvi K et al.

British Journal of Cancer, 2016

27187686 (PubMed )
Supplement: bjc2016130x2.pdf

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

Harrison WJ et al.

The American Journal of Surgical Pathology, 2016

Clonally related uterine leiomyomas are common and display branched tumor evolution.

Mehine M et al.

Human Molecular Genetics, 2015

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.

Tolvanen J et al.

Human Reproduction (oxford, England), 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."