Publications:

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UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Plos Genetics

Saini, Natalie N; Giacobone, Camille K CK; Klimczak, Leszek J LJ; Papas, Brian N BN; Burkholder, Adam B AB; Li, Jian-Liang JL; Fargo, David C DC; Bai, Re R; Gerrish, Kevin K; Innes, Cynthia L CL; Schurman, Shepherd H SH; Gordenin, Dmitry A DA

Publication Date: 2021-01

Variant appearance in text: MUC16: P12666S

PubMed Link: 33444353

Variant Present in the following documents:

• pgen.1009302.s014.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: MUC16: P12666S

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: MUC16: 37996C>T; Pro12666Ser

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 19
• pone.0210079.s007.xlsx, sheet 18

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: MUC16: P12666S

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: MUC16: P12666S; rs762490369

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic alterations in mucins across cancers.

Oncotarget

King, Ryan J RJ; Yu, Fang F; Singh, Pankaj K PK

Publication Date: 2017-09-15

Variant appearance in text: MUC16: P12666S

PubMed Link: 28978023

Variant Present in the following documents:

• oncotarget-08-67152-s005.xls, sheet 1

View BVdb publication page

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The genomic landscape of childhood and adolescent melanoma.

The Journal Of Investigative Dermatology

Lu, Charles C; Zhang, Jinghui J; Nagahawatte, Panduka P; Easton, John J; Lee, Seungjae S; Liu, Zhifa Z; Ding, Li L; Wyczalkowski, Matthew A MA; Valentine, Marcus M; Navid, Fariba F; Mulder, Heather H; Tatevossian, Ruth G RG; Dalton, James J; Davenport, James J; Yin, Zhirong Z; Edmonson, Michael M; Rusch, Michael M; Wu, Gang G; Li, Yongjin Y; Parker, Matthew M; Hedlund, Erin E; Shurtleff, Sheila S; Raimondi, Susana S; Bhavin, Vadodaria V; Donald, Yergeau Y; Mardis, Elaine R ER; Wilson, Richard K RK; Evans, William E WE; Ellison, David W DW; Pounds, Stanley S; Dyer, Michael M; Downing, James R JR; Pappo, Alberto A; Bahrami, Armita A

Publication Date: 2015-03

Variant appearance in text: MUC16: P12666S

PubMed Link: 25268584

Variant Present in the following documents:

• jid2014425x2.xls, sheet 1

View BVdb publication page

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