Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: N/A

PubMed Link: 36991000

Variant Present in the following documents:

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Whole-genome doubling drives oncogenic loss of chromatin segregation.

Nature

Lambuta, Ruxandra A RA; Nanni, Luca L; Liu, Yuanlong Y; Diaz-Miyar, Juan J; Iyer, Arvind A; Tavernari, Daniele D; Katanayeva, Natalya N; Ciriello, Giovanni G; Oricchio, Elisa E

Publication Date: 2023-03-15

Variant appearance in text: N/A

PubMed Link: 36922594

Variant Present in the following documents:

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: N/A

PubMed Link: 36409824

Variant Present in the following documents:

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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: 1005T>A; Pro335Pro

PubMed Link: 34644276

Variant Present in the following documents:

• ct9-12-e00403-s007.pdf
• ct9-12-e00403-s006.pdf

View BVdb publication page

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Utility of exome sequencing in routine care for metastatic colorectal cancer.

Molecular And Clinical Oncology

D'Agay, Melchior De Giraud MG; Galland, Loïck L; Tharin, Zoe Z; Truntzer, Caroline C; Ghiringhelli, Francois F

Publication Date: 2021-11

Variant appearance in text: KMT2C: Pro335=

PubMed Link: 34631054

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

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Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine

Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R

Publication Date: 2021-08-09

Variant appearance in text: N/A

PubMed Link: 34291583

Variant Present in the following documents:

View BVdb publication page

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2-kupl: mapping-free variant detection from DNA-seq data of matched samples.

Bmc Bioinformatics

Wang, Yunfeng Y; Xue, Haoliang H; Pourcel, Christine C; Du, Yang Y; Gautheret, Daniel D

Publication Date: 2021-06-05

Variant appearance in text: KMT2C: P335P

PubMed Link: 34090332

Variant Present in the following documents:

• 12859_2021_4185_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: N/A

PubMed Link: 34001105

Variant Present in the following documents:

View BVdb publication page

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Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: KMT2C: P335P

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: MLL3: 1005T>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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: N/A

PubMed Link: 31097695

Variant Present in the following documents:

View BVdb publication page

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Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Clinical Sarcoma Research

Heinrich, Michael C MC; Patterson, Janice J; Beadling, Carol C; Wang, Yuexiang Y; Debiec-Rychter, Maria M; Dewaele, Barbara B; Corless, Christopher L CL; Duensing, Anette A; Raut, Chandrajit P CP; Rubin, Brian B; Ordog, Tamas T; van de Rijn, Matt M; Call, Jerry J; Mühlenberg, Thomas T; Fletcher, Jonathan A JA; Bauer, Sebastian S

Publication Date: 2019

Variant appearance in text: N/A

PubMed Link: 30867899

Variant Present in the following documents:

View BVdb publication page

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Genomic characterization of metastatic ultra-hypermutated interdigitating dendritic cell sarcoma through rapid research autopsy.

Oncotarget

Chen, Hui-Zi HZ; Bonneville, Russell R; Yu, Lianbo L; Wing, Michele R MR; Reeser, Julie W JW; Krook, Melanie A MA; Miya, Jharna J; Samorodnitsky, Eric E; Smith, Amy A; Martin, Dorrelyn D; Dao, Thuy T; Guo, Qishan Q; Liebner, David D; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S

Publication Date: 2019-01-08

Variant appearance in text: N/A

PubMed Link: 30719225

Variant Present in the following documents:

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: 1005T>A

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 20

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Somatic Tumor Mutations Detected by Targeted Next Generation Sequencing in Minute Amounts of Serum-Derived Cell-Free DNA.

Scientific Reports

Weerts, Marjolein J A MJA; van Marion, Ronald R; Helmijr, Jean C A JCA; Beaufort, Corine M CM; Krol, Niels M G NMG; Trapman-Jansen, Anita M A C AMAC; Dinjens, Winand N M WNM; Sleijfer, Stefan S; Jansen, Maurice P H M MPHM; Martens, John W M JWM

Publication Date: 2017-05-18

Variant appearance in text: rs141993954

PubMed Link: 28522829

Variant Present in the following documents:

• Main text
• 41598_2017_Article_2388.pdf
• 41598_2017_2388_MOESM1_ESM.pdf

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A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma.

Cold Spring Harbor Molecular Case Studies

Chen, Kenneth S KS; Kwon, Woo Sun WS; Kim, Jiwoong J; Heo, Su Jin SJ; Kim, Hyo Song HS; Kim, Hyo Ki HK; Kim, Soo Hee SH; Lee, Won Suk WS; Chung, Hyun Cheol HC; Rha, Sun Young SY; Hwang, Tae Hyun TH

Publication Date: 2016-09

Variant appearance in text: KMT2C: 1005T>A; rs141993954

PubMed Link: 27626065

Variant Present in the following documents:

• supp_mcs.a000992_Table_S2_osteosarcoma_mutect_variants.xlsx, sheet 1

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: KMT2C: P335P

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: N/A

PubMed Link: 25589003

Variant Present in the following documents:

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: N/A

PubMed Link: 25347344

Variant Present in the following documents:

View BVdb publication page

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