Publications:

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P16 immunohistochemistry is a sensitive and specific surrogate marker for CDKN2A homozygous deletion in gliomas.

Acta Neuropathologica Communications

Vij, Meenakshi M; Cho, Benjamin B BB; Yokoda, Raquel T RT; Rashidipour, Omid O; Umphlett, Melissa M; Richardson, Timothy E TE; Tsankova, Nadejda M NM

Publication Date: 2023-05-03

Variant appearance in text: NF1: W221*

PubMed Link: 37138345

Variant Present in the following documents:

• 40478_2023_1573_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NF1: 663G>A; Trp221Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic patterns of malignant peripheral nerve sheath tumor (MPNST) evolution correlate with clinical outcome and are detectable in cell-free DNA.

Cancer Discovery

Cortes-Ciriano, Isidro I; Steele, Christopher D CD; Piculell, Katherine K; Al-Ibraheemi, Alyaa A; Eulo, Vanessa V; Bui, Marilyn M MM; Chatzipli, Aikaterini A; Dickson, Brendan C BC; Borcherding, Dana C DC; Feber, Andrew A; Galor, Alon A; Hart, Jesse J; Jones, Kevin B KB; Jordan, Justin T JT; Kim, Raymond H RH; Lindsay, Daniel D; Miller, Colin C; Nishida, Yoshihiro Y; Proszek, Paula Z PZ; Serrano, Jonathan J; Sundby, R Taylor RT; Szymanski, Jeffrey J JJ; Ullrich, Nicole J NJ; Viskochil, David D; Wang, Xia X; Snuderl, Matija M; Park, Peter J PJ; Flanagan, Adrienne M AM; Hirbe, Angela C AC; Pillay, Nischalan N; Miller, David T DT

Publication Date: 2023-01-04

Variant appearance in text: NF1: W221X

PubMed Link: 36598417

Variant Present in the following documents:

• cd-22-0786_supplementary_tables_s1_and_s2_suppst1.xlsx, sheet 1

View BVdb publication page

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The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer

Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ

Publication Date: 2022-01-05

Variant appearance in text: NF1: W221*

PubMed Link: 34986841

Variant Present in the following documents:

• 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer

Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ

Publication Date: 2022-01-05

Variant appearance in text: NF1: W221*

PubMed Link: 34986841

Variant Present in the following documents:

• 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic and transcriptomic landscape of conjunctival melanoma.

Plos Genetics

Cisarova, Katarina K; Folcher, Marc M; El Zaoui, Ikram I; Pescini-Gobert, Rosanna R; Peter, Virginie G VG; Royer-Bertrand, Beryl B; Zografos, Leonidas L; Schalenbourg, Ann A; Nicolas, Michael M; Rimoldi, Donata D; Leyvraz, Serge S; Riggi, Nicolò N; Moulin, Alexandre P AP; Rivolta, Carlo C

Publication Date: 2020-12

Variant appearance in text: NF1: 663G>A; W221*

PubMed Link: 33383577

Variant Present in the following documents:

• pgen.1009201.s006.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: NF1: W221*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.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: NF1: W221*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.

Blood Cancer Journal

Gasparini, Vanessa Rebecca VR; Binatti, Andrea A; Coppe, Alessandro A; Teramo, Antonella A; Vicenzetto, Cristina C; Calabretto, Giulia G; Barilà, Gregorio G; Barizza, Annica A; Giussani, Edoardo E; Facco, Monica M; Mustjoki, Satu S; Semenzato, Gianpietro G; Zambello, Renato R; Bortoluzzi, Stefania S

Publication Date: 2020-04-22

Variant appearance in text: NF1: Trp221*

PubMed Link: 32321919

Variant Present in the following documents:

• 41408_2020_309_MOESM4_ESM.pdf

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: NF1: 663G>A; W221*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: NF1: Trp221*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Retinoic acid receptor alpha drives cell cycle progression and is associated with increased sensitivity to retinoids in T-cell lymphoma.

Oncotarget

Wang, Xueju X; Dasari, Surendra S; Nowakowski, Grzegorz S GS; Lazaridis, Konstantinos N KN; Wieben, Eric D ED; Kadin, Marshall E ME; Feldman, Andrew L AL; Boddicker, Rebecca L RL

Publication Date: 2017-04-18

Variant appearance in text: NF1: W221*

PubMed Link: 28412739

Variant Present in the following documents:

• oncotarget-08-26245-s001.pdf

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Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: Trp221X

PubMed Link: 22155606

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-623.pdf

View BVdb publication page

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