Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.

Fertility and sterility - 1 Jan 2016

Wheeler Karen C, Warr Dillon J, Warsetsky Sarah I, Barmat Larry I

Abstract excerpt

OBJECTIVE: To describe a novel mutation in the fumarate hydratase (FH) gene in a family with atypical uterine leiomyomas. DESIGN: Case report and review of the literature. SETTING: Academic community hospital. PATIENT(S): Three sisters who presented as nulligravidas aged 27-30 years with large atypical uterine leiomyomas. INTERVENTION(S): Abdominal myomectomy, robotic myomectomy, hysterectomy, gene sequencing....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fumarate Hydratase
Share to Heredity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hysterectomy

Share to Leiomyoma

Share to Leiomyomatosis

Share to Neoplastic Syndromes, Hereditary

Share to Tumor Burden

Share to Uterine Neoplasms

Source

Identifiers

PMID: 26493120
DOI: 10.1016/j.fertnstert.2015.09.034

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.PMID 26493120Read ↗

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.Semantic proximity Read ↗

Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.Semantic proximity Read ↗

Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.Semantic proximity Read ↗

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.Semantic proximity Read ↗

A new missense mutation c.1240A>G in fumarate hydratase gene leads to uterine leiomyoma associated hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in ChineseSemantic proximity Read ↗

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.Semantic proximity Read ↗

Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patientsSemantic proximity Read ↗

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.Semantic proximity Read ↗

Association of Germline Mutations in the Fumarate Hydratase Gene and Uterine Fibroids in Women With Hereditary Leiomyomatosis and Renal Cell CancerSemantic proximity Read ↗

The genetics of uterine leiomyomata: what clinicians need to know.Semantic proximity Read ↗

Hereditary leiomyomatosis and renal cell carcinomaSemantic proximity Read ↗

Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approachSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.