Publications:

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Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular Diagnosis & Therapy

Fitzgerald, Sandra S; Blenkiron, Cherie C; Stephens, Rosalie R; Mathy, Jon A JA; Somers-Edgar, Tiffany T; Rolfe, Gill G; Martin, Richard R; Jackson, Christopher C; Eccles, Michael M; Robb, Tamsin T; Rodger, Euan E; Lawrence, Ben B; Guilford, Parry P; Lasham, Annette A; Print, Cristin G CG

Publication Date: 2023-04-26

Variant appearance in text: NF1: 2088G>A; W696*

PubMed Link: 37099071

Variant Present in the following documents:

• 40291_2023_651_MOESM1_ESM.xlsx, sheet 2

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: 2088G>A; Trp696Ter

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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Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.

Cancer Medicine

Varadi, Melinda M; Nagy, Nikolett N; Reis, Henning H; Hadaschik, Boris B; Niedworok, Christian C; Modos, Orsolya O; Szendroi, Attila A; Ablat, Jason J; Black, Peter C PC; Keresztes, David D; Csizmarik, Anita A; Olah, Csilla C; Gaisa, Nadine T NT; Kiss, Andras A; Timar, Jozsef J; Toth, Erika E; Csernak, Erzsebet E; Gerstner, Arpad A; Mittal, Vinay V; Karkampouna, Sofia S; Kruithof de Julio, Marianna M; Gyorffy, Balazs B; Bedics, Gabor G; Rink, Michael M; Fisch, Margit M; Nyirady, Peter P; Szarvas, Tibor T

Publication Date: 2023-01-20

Variant appearance in text: NF1: Trp696Ter

PubMed Link: 36670542

Variant Present in the following documents:

• CAM4-12-9041-s001.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology

Georgoulias, George G; Zaravinos, Apostolos A

Publication Date: 2022

Variant appearance in text: NF1: W696*

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 10

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: NF1: 2088G>A

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.

Oncology Reports

Tak, Eunyoung E; Kim, Minhee M; Cho, Youngra Y; Choi, Sueun S; Kim, Jihun J; Han, Buhm B; Kim, Hyung-Don HD; Jang, Chloe Soo-Hyun CS; Kim, Jeong Eun JE; Hong, Yong Sang YS; Kim, Sun Young SY; Kim, Tae Won TW

Publication Date: 2022-01

Variant appearance in text: NF1: W696*

PubMed Link: 34779495

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

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Oncomine™ Comprehensive Assay v3 vs. Oncomine™ Comprehensive Assay Plus.

Cancers

Vestergaard, Lau K LK; Oliveira, Douglas N P DNP; Poulsen, Tim S TS; Høgdall, Claus K CK; Høgdall, Estrid V EV

Publication Date: 2021-10-18

Variant appearance in text: NF1: Trp696Ter

PubMed Link: 34680378

Variant Present in the following documents:

• Main text
• cancers-13-05230.pdf

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: NF1: W696fs*1

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: NF1: W696*

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and epigenetic analysis of cancer-related genes in non-ampullary duodenal adenomas and intramucosal adenocarcinomas.

The Journal Of Pathology

Ota, Ryosuke R; Sawada, Takeshi T; Tsuyama, Sho S; Sasaki, Yasushi Y; Suzuki, Hiromu H; Kaizaki, Yasuharu Y; Hasatani, Kenkei K; Yamamoto, Eiichiro E; Nakanishi, Hiroyoshi H; Inagaki, Satoko S; Tsuji, Shigetsugu S; Yoshida, Naohiro N; Doyama, Hisashi H; Minato, Hiroshi H; Nakamura, Keishi K; Kasashima, Satomi S; Kubota, Eiji E; Kataoka, Hiromi H; Tokino, Takashi T; Yao, Takashi T; Minamoto, Toshinari T

Publication Date: 2020-11

Variant appearance in text: NF1: Trp696Ter

PubMed Link: 32770675

Variant Present in the following documents:

• PATH-252-330-s002.xlsx, sheet 8

View BVdb publication page

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Fusions involving BCOR and CREBBP are rare events in infiltrating glioma.

Acta Neuropathologica Communications

Pisapia, David J DJ; Ohara, Kentaro K; Bareja, Rohan R; Wilkes, David C DC; Hissong, Erika E; Croyle, Jaclyn A JA; Kim, Joon-Hyung JH; Saab, Jad J; MacDonald, Theresa Y TY; Beg, Shaham S; O'Reilly, Catherine C; Kudman, Sarah S; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Greenfield, Jeffrey J; Mosquera, Juan Miguel JM

Publication Date: 2020-06-03

Variant appearance in text: NF1: Trp696Ter

PubMed Link: 32493417

Variant Present in the following documents:

• Main text
• 40478_2020_Article_951.pdf

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: NF1: W696*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Recurrent genetic alterations and biomarker expression in primary and metastatic squamous cell carcinomas of the vulva.

Human Pathology

Xing, Deyin D; Liu, Yuehua Y; Park, Hyeon Jin HJ; Baek, Inji I; Tran, Hung H; Cheang, Gloria G; Novo, Jorge J; Dillon, Jessica J; Matoso, Andres A; Farmer, Emily E; Cheng, Max A MA; Tsai, Ya-Chea YC; Lombardo, Kara K; Conner, Michael G MG; Vang, Russell R; Hung, Chien-Fu CF; Wu, Tzyy-Choou TC; Song, Wei W

Publication Date: 2019-10

Variant appearance in text: NF1: Trp696Ter

PubMed Link: 31437519

Variant Present in the following documents:

• Main text

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: NF1: W696*

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9

View BVdb publication page

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: NF1: Trp696Ter

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

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Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates.

Nature Communications

Chitsazzadeh, Vida V; Coarfa, Cristian C; Drummond, Jennifer A JA; Nguyen, Tri T; Joseph, Aaron A; Chilukuri, Suneel S; Charpiot, Elizabeth E; Adelmann, Charles H CH; Ching, Grace G; Nguyen, Tran N TN; Nicholas, Courtney C; Thomas, Valencia D VD; Migden, Michael M; MacFarlane, Deborah D; Thompson, Erika E; Shen, Jianjun J; Takata, Yoko Y; McNiece, Kayla K; Polansky, Maxim A MA; Abbas, Hussein A HA; Rajapakshe, Kimal K; Gower, Adam A; Spira, Avrum A; Covington, Kyle R KR; Xiao, Weimin W; Gunaratne, Preethi P; Pickering, Curtis C; Frederick, Mitchell M; Myers, Jeffrey N JN; Shen, Li L; Yao, Hui H; Su, Xiaoping X; Rapini, Ronald P RP; Wheeler, David A DA; Hawk, Ernest T ET; Flores, Elsa R ER; Tsai, Kenneth Y KY

Publication Date: 2016-08-30

Variant appearance in text: NF1: W696X

PubMed Link: 27574101

Variant Present in the following documents:

• ncomms12601-s2.xlsx, sheet 1

View BVdb publication page

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NF1 Mutations Are Common in Desmoplastic Melanoma.

The American Journal Of Surgical Pathology

Wiesner, Thomas T; Kiuru, Maija M; Scott, Sasinya N SN; Arcila, Maria M; Halpern, Allan C AC; Hollmann, Travis T; Berger, Michael F MF; Busam, Klaus J KJ

Publication Date: 2015-10

Variant appearance in text: NF1: 2088G>A; W696*

PubMed Link: 26076063

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2088G>A; Trp696X

PubMed Link: 22155606

Variant Present in the following documents:

• Main text

View BVdb publication page

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