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

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 w...

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Pubblicato in:Orphanet J Rare Dis
Autori principali: Moes-Sosnowska, Joanna, Szafron, Lukasz, Nowakowska, Dorota, Dansonka-Mieszkowska, Agnieszka, Budzilowska, Agnieszka, Konopka, Bozena, Plisiecka-Halasa, Joanna, Podgorska, Agnieszka, Rzepecka, Iwona K, Kupryjanczyk, Jolanta
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4365965/
https://ncbi.nlm.nih.gov/pubmed/25886974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0247-4
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