Publications:

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: MLL3: 14073C>G

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: MLL3: 14073C>G

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: MLL3: Y4691*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.

Scientific Reports

Mathioudaki, Argyri A; Ljungström, Viktor V; Melin, Malin M; Arendt, Maja Louise ML; Nordin, Jessika J; Karlsson, Åsa Å; Murén, Eva E; Saksena, Pushpa P; Meadows, Jennifer R S JRS; Marinescu, Voichita D VD; Sjöblom, Tobias T; Lindblad-Toh, Kerstin K

Publication Date: 2020-11-09

Variant appearance in text: KMT2C: Y4691*

PubMed Link: 33168853

Variant Present in the following documents:

• 41598_2020_74580_MOESM1_ESM.pdf

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: MLL3: 14073C>G

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: KMT2C: Y4691*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.

Nature Communications

Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA

Publication Date: 2019-05-16

Variant appearance in text: KMT2C: Y4691X

PubMed Link: 31097695

Variant Present in the following documents:

• 41467_2019_9937_MOESM8_ESM.xlsx, sheet 2
• 41467_2019_9937_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic reconstruction of autism biology from massive genetic mutation profiles.

Science Advances

Luo, Weijun W; Zhang, Chaolin C; Jiang, Yong-Hui YH; Brouwer, Cory R CR

Publication Date: 2018-04

Variant appearance in text: KMT2C: Y4691*

PubMed Link: 29651456

Variant Present in the following documents:

• 1701799_TableS5.xlsx, sheet 2

View BVdb publication page

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Nature

O'Roak, Brian J BJ; Vives, Laura L; Girirajan, Santhosh S; Karakoc, Emre E; Krumm, Niklas N; Coe, Bradley P BP; Levy, Roie R; Ko, Arthur A; Lee, Choli C; Smith, Joshua D JD; Turner, Emily H EH; Stanaway, Ian B IB; Vernot, Benjamin B; Malig, Maika M; Baker, Carl C; Reilly, Beau B; Akey, Joshua M JM; Borenstein, Elhanan E; Rieder, Mark J MJ; Nickerson, Deborah A DA; Bernier, Raphael R; Shendure, Jay J; Eichler, Evan E EE

Publication Date: 2012-04-04

Variant appearance in text: MLL3: TYR4691TER

PubMed Link: 22495309

Variant Present in the following documents:

• Main text
• nihms359279.pdf

View BVdb publication page

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