Publications:

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: SMARCA4: R208Q

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1

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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: 623G>A; Arg208Gln; rs769756381

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: R208Q

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

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Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.

Plos One

Sheffield, Brandon S BS; Tinker, Anna V AV; Shen, Yaoqing Y; Hwang, Harry H; Li-Chang, Hector H HH; Pleasance, Erin E; Ch'ng, Carolyn C; Lum, Amy A; Lorette, Julie J; McConnell, Yarrow J YJ; Sun, Sophie S; Jones, Steven J M SJ; Gown, Allen M AM; Huntsman, David G DG; Schaeffer, David F DF; Churg, Andrew A; Yip, Stephen S; Laskin, Janessa J; Marra, Marco A MA

Publication Date: 2015

Variant appearance in text: SMARCA4: R208Q

PubMed Link: 25798586

Variant Present in the following documents:

• pone.0119689.s004.xlsx, sheet 3

View BVdb publication page