Publications:

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: KMT2C: 2769+5G>T; rs73728782

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Epithelial-to-Mesenchymal Transition Supports Ovarian Carcinosarcoma Tumorigenesis and Confers Sensitivity to Microtubule Targeting with Eribulin.

Cancer Research

Ho, Gwo Yaw GY; Kyran, Elizabeth L EL; Bedo, Justin J; Wakefield, Matthew J MJ; Ennis, Darren P DP; Mirza, Hasan B HB; Vandenberg, Cassandra J CJ; Lieschke, Elizabeth E; Farrell, Andrew A; Hadla, Anthony A; Lim, Ratana R; Dall, Genevieve G; Vince, James E JE; Chua, Ngee Kiat NK; Kondrashova, Olga O; Upstill-Goddard, Rosanna R; Bailey, Ulla-Maja UM; Dowson, Suzanne S; Roxburgh, Patricia P; Glasspool, Rosalind M RM; Bryson, Gareth G; Biankin, Andrew V AV; , ; Cooke, Susanna L SL; Ratnayake, Gayanie G; McNally, Orla O; Traficante, Nadia N; , ; DeFazio, Anna A; Weroha, S John SJ; Bowtell, David D DD; McNeish, Iain A IA; Papenfuss, Anthony T AT; Scott, Clare L CL; Barker, Holly E HE

Publication Date: 2022-12-02

Variant appearance in text: KMT2C: 2769+5G>T

PubMed Link: 36206301

Variant Present in the following documents:

• can-21-4012_supplementary_data_suppst1-st24.xlsx, sheet 4

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Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One

Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E

Publication Date: 2021

Variant appearance in text: KMT2C: 2769+5G>T

PubMed Link: 34855882

Variant Present in the following documents:

• pone.0260852.s015.xlsx, sheet 8

View BVdb publication page

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Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One

Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E

Publication Date: 2021

Variant appearance in text: KMT2C: 2769+5G>T

PubMed Link: 34855882

Variant Present in the following documents:

• pone.0260852.s015.xlsx, sheet 8

View BVdb publication page

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Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival.

Clinical And Translational Gastroenterology

Varkalaite, Greta G; Forster, Michael M; Franke, Andre A; Kupcinskas, Juozas J; Skieceviciene, Jurgita J

Publication Date: 2021-09-24

Variant appearance in text: KMT2C: 2769+5G>T

PubMed Link: 34644276

Variant Present in the following documents:

• ct9-12-e00403-s007.pdf

View BVdb publication page

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Establishment and Characterization of a Novel Human Ocular Adnexal Sebaceous Carcinoma Cell Line.

Translational Vision Science & Technology

Rong, Andrew J AJ; Gallo, Ryan A RA; Zhang, Michelle G MG; Doddapaneni, Ravi R; Griswold, Anthony J AJ; Lee, John Y JY; Kurtenbach, Stefan S; Dubovy, Sander R SR; Tse, David T DT; Pelaez, Daniel D

Publication Date: 2021-05-03

Variant appearance in text: rs73728782

PubMed Link: 34043754

Variant Present in the following documents:

• tvst-10-6-34_s001.xlsx, sheet 1

View BVdb publication page

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: KMT2C: 2769+5G>T; rs73728782

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine

Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O

Publication Date: 2019-12

Variant appearance in text: KMT2C: 2769+5G>T

PubMed Link: 31768065

Variant Present in the following documents:

• NIHMS1541330-supplement-1.pdf

View BVdb publication page

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Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Nature Communications

Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N

Publication Date: 2019-10-17

Variant appearance in text: KMT2C: 2769+5G>T

PubMed Link: 31624251

Variant Present in the following documents:

• 41467_2019_12746_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic Evaluation of Multiparametric Magnetic Resonance Imaging-visible and -nonvisible Lesions in Clinically Localised Prostate Cancer.

European Urology Oncology

Parry, Marina A MA; Srivastava, Shambhavi S; Ali, Adnan A; Cannistraci, Alessio A; Antonello, Jenny J; Barros-Silva, João Diogo JD; Ubertini, Valentina V; Ramani, Vijay V; Lau, Maurice M; Shanks, Jonathan J; Nonaka, Daisuke D; Oliveira, Pedro P; Hambrock, Thomas T; Leong, Hui Sun HS; Dhomen, Nathalie N; Miller, Crispin C; Brady, Ged G; Dive, Caroline C; Clarke, Noel W NW; Marais, Richard R; Baena, Esther E

Publication Date: 2019-02

Variant appearance in text: rs73728782

PubMed Link: 30929837

Variant Present in the following documents:

• mmc6.xlsx, sheet 8
• mmc6.xlsx, sheet 20

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: MLL3: 2769+5G>T

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 21
• pone.0210079.s007.xlsx, sheet 3

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Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: rs73728782

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 4

View BVdb publication page

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