Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: NF1: R440Q

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: NF1: 1319G>A; Arg440Gln

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.

Journal Of Epilepsy Research

Rahman, Md Mizanur MM; Fatema, Kanij K

Publication Date: 2021-06

Variant appearance in text: NF1: 1319G>A; Arg440His

PubMed Link: 34395220

Variant Present in the following documents:

• Main text
• jer-21004.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: R440Q

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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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: 1319G>A; R440Q

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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Identification and ranking of recurrent neo-epitopes in cancer.

Bmc Medical Genomics

Blanc, Eric E; Holtgrewe, Manuel M; Dhamodaran, Arunraj A; Messerschmidt, Clemens C; Willimsky, Gerald G; Blankenstein, Thomas T; Beule, Dieter D

Publication Date: 2019-11-27

Variant appearance in text: NF1: R440Q

PubMed Link: 31775766

Variant Present in the following documents:

• 12920_2019_611_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: NF1: 1319G>A; R440Q

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: NF1: 1319G>A; R440Q

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.xlsx, sheet 1

View BVdb publication page

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Mutational analysis of multiple lung cancers: Discrimination between primary and metastatic lung cancers by genomic profile.

Oncotarget

Goto, Taichiro T; Hirotsu, Yosuke Y; Mochizuki, Hitoshi H; Nakagomi, Takahiro T; Shikata, Daichi D; Yokoyama, Yujiro Y; Oyama, Toshio T; Amemiya, Kenji K; Okimoto, Kenichiro K; Omata, Masao M

Publication Date: 2017-05-09

Variant appearance in text: NF1: Arg440Gln

PubMed Link: 28415711

Variant Present in the following documents:

• Main text
• oncotarget-08-31133.pdf

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: NF1: R440Q

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

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