Publications:

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NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Cell Reports

Ramakrishnan, Gopalakrishnan G; Parajuli, Parash P; Singh, Pura P; Friend, Creighton C; Hurwitz, Eric E; Prunier, Celine C; Razzaque, Mohammed S MS; Xu, Keli K; Atfi, Azeddine A

Publication Date: 2022-11-08

Variant appearance in text: TP53: P92P

PubMed Link: 36351408

Variant Present in the following documents:

• NIHMS1848910-supplement-2.xlsx, sheet 3
• NIHMS1848910-supplement-2.xlsx, sheet 2

View BVdb publication page

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PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M

Publication Date: 2021-07

Variant appearance in text: TP53: 276C>T; Pro92Pro

PubMed Link: 34315821

Variant Present in the following documents:

• jitc-2021-002844supp002.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.

Nature Communications

Newell, Felicity F; Wilmott, James S JS; Johansson, Peter A PA; Nones, Katia K; Addala, Venkateswar V; Mukhopadhyay, Pamela P; Broit, Natasa N; Amato, Carol M CM; Van Gulick, Robert R; Kazakoff, Stephen H SH; Patch, Ann-Marie AM; Koufariotis, Lambros T LT; Lakis, Vanessa V; Leonard, Conrad C; Wood, Scott S; Holmes, Oliver O; Xu, Qinying Q; Lewis, Karl K; Medina, Theresa T; Gonzalez, Rene R; Saw, Robyn P M RPM; Spillane, Andrew J AJ; Stretch, Jonathan R JR; Rawson, Robert V RV; Ferguson, Peter M PM; Dodds, Tristan J TJ; Thompson, John F JF; Long, Georgina V GV; Levesque, Mitchell P MP; Robinson, William A WA; Pearson, John V JV; Mann, Graham J GJ; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK

Publication Date: 2020-10-16

Variant appearance in text: TP53: 276C>T

PubMed Link: 33067454

Variant Present in the following documents:

• 41467_2020_18988_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer.

Gastroenterology

Dreyer, Stephan B SB; Upstill-Goddard, Rosie R; Paulus-Hock, Viola V; Paris, Clara C; Lampraki, Eirini-Maria EM; Dray, Eloise E; Serrels, Bryan B; Caligiuri, Giuseppina G; Rebus, Selma S; Plenker, Dennis D; Galluzzo, Zachary Z; Brunton, Holly H; Cunningham, Richard R; Tesson, Mathias M; Nourse, Craig C; Bailey, Ulla-Maja UM; Jones, Marc M; Moran-Jones, Kim K; Wright, Derek W DW; Duthie, Fraser F; Oien, Karin K; Evers, Lisa L; McKay, Colin J CJ; McGregor, Grant A GA; Gulati, Aditi A; Brough, Rachel R; Bajrami, Ilirjana I; Pettitt, Stephan S; Dziubinski, Michele L ML; Candido, Juliana J; Balkwill, Frances F; Barry, Simon T ST; Grützmann, Robert R; Rahib, Lola L; , ; , ; Johns, Amber A; Pajic, Marina M; Froeling, Fieke E M FEM; Beer, Phillip P; Musgrove, Elizabeth A EA; Petersen, Gloria M GM; Ashworth, Alan A; Frame, Margaret C MC; Crawford, Howard C HC; Simeone, Diane M DM; Lord, Chris C; Mukhopadhyay, Debabrata D; Pilarsky, Christian C; Tuveson, David A DA; Cooke, Susanna L SL; Jamieson, Nigel B NB; Morton, Jennifer P JP; Sansom, Owen J OJ; Bailey, Peter J PJ; Biankin, Andrew V AV; Chang, David K DK

Publication Date: 2021-01

Variant appearance in text: N/A

PubMed Link: 33039466

Variant Present in the following documents:

View BVdb publication page

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HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer.

Cell Reports

Brunton, Holly H; Caligiuri, Giuseppina G; Cunningham, Richard R; Upstill-Goddard, Rosie R; Bailey, Ulla-Maja UM; Garner, Ian M IM; Nourse, Craig C; Dreyer, Stephan S; Jones, Marc M; Moran-Jones, Kim K; Wright, Derek W DW; Paulus-Hock, Viola V; Nixon, Colin C; Thomson, Gemma G; Jamieson, Nigel B NB; McGregor, Grant A GA; Evers, Lisa L; McKay, Colin J CJ; Gulati, Aditi A; Brough, Rachel R; Bajrami, Ilirjana I; Pettitt, Stephen J SJ; Dziubinski, Michele L ML; Barry, Simon T ST; Grützmann, Robert R; Brown, Robert R; Curry, Edward E; , ; , ; Pajic, Marina M; Musgrove, Elizabeth A EA; Petersen, Gloria M GM; Shanks, Emma E; Ashworth, Alan A; Crawford, Howard C HC; Simeone, Diane M DM; Froeling, Fieke E M FEM; Lord, Christopher J CJ; Mukhopadhyay, Debabrata D; Pilarsky, Christian C; Grimmond, Sean E SE; Morton, Jennifer P JP; Sansom, Owen J OJ; Chang, David K DK; Bailey, Peter J PJ; Biankin, Andrew V AV

Publication Date: 2020-05-12

Variant appearance in text: TP53: P92P

PubMed Link: 32402285

Variant Present in the following documents:

• NIHMS1625804-supplement-Table_S4.xlsx, sheet 1

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: TP53: 276C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
• 41467_2019_10489_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 276C>T; Pro92=

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics

Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC

Publication Date: 2018-10

Variant appearance in text: TP53: P92P

PubMed Link: 30224644

Variant Present in the following documents:

• NIHMS1501645-supplement-4.xlsx, sheet 1

View BVdb publication page

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Plk2 Loss Commonly Occurs in Colorectal Carcinomas but not Adenomas: Relationship to mTOR Signaling.

Neoplasia (New York, N.Y.)

Matthew, Elizabeth M EM; Yang, Zhaohai Z; Peri, Suraj S; Andrake, Mark M; Dunbrack, Roland R; Ross, Eric E; El-Deiry, Wafik S WS

Publication Date: 2018-03

Variant appearance in text: p53: 276C>T

PubMed Link: 29448085

Variant Present in the following documents:

• Main text

View BVdb publication page

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