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Article

Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type.

Orphanet journal of rare diseases - 15 Mar 2015

Moes-Sosnowska Joanna, Szafron Lukasz, Nowakowska Dorota, Dansonka-Mieszkowska Agnieszka, Budzilowska Agnieszka, Konopka Bozena, Plisiecka-Halasa Joanna, Podgorska Agnieszka, Rzepecka Iwona K, Kupryjanczyk Jolanta

Abstract excerpt

BACKGROUND: SMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT). Familial occurrence of this neoplasm was described previously. METHODS: We looked for germline SMARCA4 alterations in eight patients with the SCCHT. DNA was extracted from probands' and their relatives' blood. The SMARCA4 coding sequence, previously found altered in all...

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Identifiers

PMID: 25886974
DOI: 10.1186/s13023-015-0247-4
PMCID: PMC4365965

Genes

SMARCA4

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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