Publications:

SWI/SNF complex alterations as a biomarker of immunotherapy efficacy in pancreatic cancer.

Jci Insight

Botta, Gregory P GP; Kato, Shumei S; Patel, Hitendra H; Fanta, Paul P; Lee, Suzanna S; Okamura, Ryosuke R; Kurzrock, Razelle R

Publication Date: 2021-09-22

Variant appearance in text: SMARCA4: S312Y

PubMed Link: 34375311

Variant Present in the following documents:

• jciinsight-6-150453-s258.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: SMARCA4: 935C>A; S312Y

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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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: S312Y

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: SMARCA4: 935C>A; Ser312Tyr

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

View BVdb publication page