Publications:

Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.

Gynecologic Oncology

Connor, Yamicia D YD; Miao, Diana D; Lin, Douglas I DI; Hayne, Cynthia C; Howitt, Brooke E BE; Dalrymple, John L JL; DeLeonardis, Kimberly R KR; Hacker, Michele R MR; Esselen, Katharine M KM; Shea, Meghan M

Publication Date: 2020-04

Variant appearance in text: SMARCA4: 2859+1G>A

PubMed Link: 31954538

Variant Present in the following documents:

• Main text

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

Journal Of Cancer

Lu, Bingjian B; Shi, Haiyan H

Publication Date: 2019

Variant appearance in text: SMARCA4: 2859+1G>A

PubMed Link: 30662543

Variant Present in the following documents:

• Main text
• jcav10p0223.pdf

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SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

The Journal Of Pathology

Errichiello, Edoardo E; Mustafa, Noor N; Vetro, Annalisa A; Notarangelo, Lucia Dora LD; de Jonge, Hugo H; Rinaldi, Berardo B; Vergani, Debora D; Giglio, Sabrina Rita SR; Morbini, Patrizia P; Zuffardi, Orsetta O

Publication Date: 2017-09

Variant appearance in text: SMARCA4: 2859+1G>A

PubMed Link: 28608987

Variant Present in the following documents:

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