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Article

The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.

Familial cancer - 1 Jul 2017

Witkowski Leora, Donini Nancy, Byler-Dann Rebecca, Knost James A, Albrecht Steffen, Berchuck Andrew, McCluggage W Glenn, Hasselblatt Martin, Foulkes William D

Abstract excerpt

Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rhabdoid tumours, which are usually caused by mutations in the related gene, SMARCB1. While...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27866340
DOI: 10.1007/s10689-016-9957-6
PMCID: PMC5487815

Genes

SMARCA4
SMARCB1

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.

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The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.PMID 27866340Read ↗

Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition.Semantic proximity Read ↗

An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular FindingsSemantic proximity Read ↗

Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).Semantic proximity Read ↗

Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Developments on Pathogenesis.Semantic proximity Read ↗

No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.Semantic proximity Read ↗

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.Semantic proximity Read ↗

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.Semantic proximity Read ↗

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