Publications:

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Case report: Heterogenous SMARCA4-deficient thoracic non-small cell lung carcinoma with various responses to nivolumab.

Frontiers In Immunology

Lin, Yun-Tzu YT; Li, Chien-Feng CF; Wu, Hung-Chang HC; Jan, Yi-Hua YH; Kuo, Yu-Hsuan YH

Publication Date: 2023

Variant appearance in text: SMARCA4: E1310*

PubMed Link: 37051241

Variant Present in the following documents:

• Main text
• fimmu-14-1131448.pdf

View BVdb publication page

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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: E1310*

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SMARCA4: E1310*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: Glu1310*

PubMed Link: 31954538

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: SMARCA4: 3928G>T; E1310*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Patient-derived lung cancer organoids as in vitro cancer models for therapeutic screening.

Nature Communications

Kim, Minsuh M; Mun, Hyemin H; Sung, Chang Oak CO; Cho, Eun Jeong EJ; Jeon, Hye-Joon HJ; Chun, Sung-Min SM; Jung, Da Jung DJ; Shin, Tae Hoon TH; Jeong, Gi Seok GS; Kim, Dong Kwan DK; Choi, Eun Kyung EK; Jeong, Seong-Yun SY; Taylor, Alison M AM; Jain, Sejal S; Meyerson, Matthew M; Jang, Se Jin SJ

Publication Date: 2019-09-05

Variant appearance in text: SMARCA4: 3928G>T; E1310*

PubMed Link: 31488816

Variant Present in the following documents:

• 41467_2019_11867_MOESM4_ESM.xlsx, sheet 1
• 41467_2019_11867_MOESM4_ESM.xlsx, sheet 3
• 41467_2019_11867_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SMARCA4: 3928G>T; E1310*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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A network flow-based method to predict anticancer drug sensitivity.

Plos One

Qin, Yufang Y; Chen, Ming M; Wang, Haiyun H; Zheng, Xiaoqi X

Publication Date: 2015

Variant appearance in text: SMARCA4: E1310*

PubMed Link: 25992881

Variant Present in the following documents:

• pone.0127380.s002.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: SMARCA4: E1310*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Systematic identification of genomic markers of drug sensitivity in cancer cells.

Nature

Garnett, Mathew J MJ; Edelman, Elena J EJ; Heidorn, Sonja J SJ; Greenman, Chris D CD; Dastur, Anahita A; Lau, King Wai KW; Greninger, Patricia P; Thompson, I Richard IR; Luo, Xi X; Soares, Jorge J; Liu, Qingsong Q; Iorio, Francesco F; Surdez, Didier D; Chen, Li L; Milano, Randy J RJ; Bignell, Graham R GR; Tam, Ah T AT; Davies, Helen H; Stevenson, Jesse A JA; Barthorpe, Syd S; Lutz, Stephen R SR; Kogera, Fiona F; Lawrence, Karl K; McLaren-Douglas, Anne A; Mitropoulos, Xeni X; Mironenko, Tatiana T; Thi, Helen H; Richardson, Laura L; Zhou, Wenjun W; Jewitt, Frances F; Zhang, Tinghu T; O'Brien, Patrick P; Boisvert, Jessica L JL; Price, Stacey S; Hur, Wooyoung W; Yang, Wanjuan W; Deng, Xianming X; Butler, Adam A; Choi, Hwan Geun HG; Chang, Jae Won JW; Baselga, Jose J; Stamenkovic, Ivan I; Engelman, Jeffrey A JA; Sharma, Sreenath V SV; Delattre, Olivier O; Saez-Rodriguez, Julio J; Gray, Nathanael S NS; Settleman, Jeffrey J; Futreal, P Andrew PA; Haber, Daniel A DA; Stratton, Michael R MR; Ramaswamy, Sridhar S; McDermott, Ultan U; Benes, Cyril H CH

Publication Date: 2012-03-28

Variant appearance in text: SMARCA4: E1310*

PubMed Link: 22460902

Variant Present in the following documents:

• NIHMS47188-supplement-supp_data.xlsx, sheet 2

View BVdb publication page

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