Publications:

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Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology

Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H

Publication Date: 2022

Variant appearance in text: NF1: 1382G>A

PubMed Link: 36425562

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NF1: R461Q

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical impact of subclonal EGFR T790M mutations in advanced-stage EGFR-mutant non-small-cell lung cancers.

Nature Communications

Vaclova, Tereza T; Grazini, Ursula U; Ward, Lewis L; O'Neill, Daniel D; Markovets, Aleksandra A; Huang, Xiangning X; Chmielecki, Juliann J; Hartmaier, Ryan R; Thress, Kenneth S KS; Smith, Paul D PD; Barrett, J Carl JC; Downward, Julian J; de Bruin, Elza C EC

Publication Date: 2021-03-19

Variant appearance in text: NF1: 1382G>A; R461Q

PubMed Link: 33741979

Variant Present in the following documents:

• 41467_2021_22057_MOESM1_ESM.pdf

View BVdb publication page

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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.

Orphanet Journal Of Rare Diseases

Meyer, Robert R; Begemann, Matthias M; Hübner, Christian Thomas CT; Dey, Daniela D; Kuechler, Alma A; Elgizouli, Magdeldin M; Schara, Ulrike U; Ambrozaityte, Laima L; Burnyte, Birute B; Schröder, Carmen C; Kenawy, Asmaa A; Kroisel, Peter P; Demuth, Stephanie S; Fekete, Gyorgy G; Opladen, Thomas T; Elbracht, Miriam M; Eggermann, Thomas T

Publication Date: 2021-01-22

Variant appearance in text: NF1: 1382G>A

PubMed Link: 33482836

Variant Present in the following documents:

• 13023_2021_Article_1683.pdf

View BVdb publication page

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Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports

Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y

Publication Date: 2020-12-16

Variant appearance in text: NF1: R461Q

PubMed Link: 33328548

Variant Present in the following documents:

• 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2

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: 1382G>A; R461Q

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: Arg461Gln

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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Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Gopal, Raj K RK; Calvo, Sarah E SE; Shih, Angela R AR; Chaves, Frances L FL; McGuone, Declan D; Mick, Eran E; Pierce, Kerry A KA; Li, Yang Y; Garofalo, Andrea A; Van Allen, Eliezer M EM; Clish, Clary B CB; Oliva, Esther E; Mootha, Vamsi K VK

Publication Date: 2018-07-03

Variant appearance in text: NF1: R461Q

PubMed Link: 29915083

Variant Present in the following documents:

• pnas.1711888115.sd01.xlsx, sheet 3

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: 1382G>A; R461Q

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: NF1: R461Q

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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