Publications:

Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.

Genes

Xu, Midie M; Yan, Jiuliang J; Hu, Beiyuan B; Wu, Chuntao C; Gu, Haitao H; Qi, Zihao Z; Chen, Tao T; Yang, Wenting W; Zheng, Yan Y; Dong, Hanguang H; Sheng, Weiqi W; Long, Jiang J

Publication Date: 2022-09-04

Variant appearance in text: SMARCA4: 2381C>T; Thr794Met

PubMed Link: 36140756

Variant Present in the following documents:

• genes-13-01588.pdf

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Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications

Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL

Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: T794M

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

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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: 2381C>T

PubMed Link: 28608987

Variant Present in the following documents:

• Main text
• PATH-243-9.pdf

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Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology

Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL

Publication Date: 2016-06

Variant appearance in text: SMARCA4: 2381C>T; T794M

PubMed Link: 27284491

Variant Present in the following documents:

• Main text

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