Publications:

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The dominant TP53 hotspot mutation in -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.

Neuro-Oncology Advances

Marker, Daniel F DF; Agnihotri, Sameer S; Amankulor, Nduka N; Murdoch, Geoffrey H GH; Pearce, Thomas M TM

Publication Date: 2022

Variant appearance in text: NF1: 2331G>A; W777*

PubMed Link: 35047821

Variant Present in the following documents:

• vdab182_suppl_supplementary_table_s1.xlsx, sheet 3
• vdab182_suppl_supplementary_table_s1.xlsx, sheet 1

View BVdb publication page

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Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: NF1: 2331G>A; Trp777Ter

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

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Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology

Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021

Variant appearance in text: NF1: 2331G>A; W777*

PubMed Link: 34712610

Variant Present in the following documents:

• DataSheet_1.xls, sheet 6

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: NF1: 2331G>A; Trp777Ter

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 4
• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 3
• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Genome Medicine

Perera-Bel, Júlia J; Hutter, Barbara B; Heining, Christoph C; Bleckmann, Annalen A; Fröhlich, Martina M; Fröhling, Stefan S; Glimm, Hanno H; Brors, Benedikt B; Beißbarth, Tim T

Publication Date: 2018-03-15

Variant appearance in text: NF1: W777X

PubMed Link: 29544535

Variant Present in the following documents:

• 13073_2018_529_MOESM2_ESM.xlsx, sheet 7
• 13073_2018_529_MOESM5_ESM.pdf

View BVdb publication page

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BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib.

Pigment Cell & Melanoma Research

Ranzani, Marco M; Alifrangis, Constantine C; Perna, Daniele D; Dutton-Regester, Ken K; Pritchard, Antonia A; Wong, Kim K; Rashid, Mamunur M; Robles-Espinoza, Carla Daniela CD; Hayward, Nicholas K NK; McDermott, Ultan U; Garnett, Mathew M; Adams, David J DJ

Publication Date: 2015-01

Variant appearance in text: NF1: W777X

PubMed Link: 25243813

Variant Present in the following documents:

• pcmr0028-0117-sd4.xlsx, sheet 1

View BVdb publication page

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