Publications:

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Association of Nrf2 expression and mutation with Weiss and Helsinki scores in adrenocortical carcinoma.

Cancer Science

Kamai, Takao T; Murakami, Satoshi S; Arai, Kyoko K; Ishida, Kazuyuki K; Kijima, Toshiki T

Publication Date: 2022-07

Variant appearance in text: RB1: 1346G>A

PubMed Link: 35467062

Variant Present in the following documents:

• Main text
• CAS-113-2368.pdf

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: RB1: G449E

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RB1: 1346G>A; G449E

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: RB1: 1346G>A; G449E

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Genetic features and application value of next generation sequencing in the diagnosis of synchronous multifocal lung adenocarcinoma.

Oncology Letters

Chen, Xiaoyan X; Lu, Jun J; Wu, Yingying Y; Jiang, Xingran X; Gu, Yajuan Y; Li, Yunlong Y; Zhao, Hongying H; Jin, Mulan M

Publication Date: 2020-09

Variant appearance in text: RB1: G449E

PubMed Link: 32782601

Variant Present in the following documents:

• Main text
• ol-20-03-2829.pdf

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: RB1: 1346G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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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: RB1: 1346G>A; G449E

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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TP53 mutations predict for poor survival in ALK rearrangement lung adenocarcinoma patients treated with crizotinib.

Journal Of Thoracic Disease

Wang, Wen-Xian WX; Xu, Chun-Wei CW; Chen, Yan-Ping YP; Liu, Wei W; Zhong, Li-Hua LH; Chen, Fang-Fang FF; Zhuang, Wu W; Huang, Yun-Jian YJ; Huang, Zhang-Zhou ZZ; Chen, Rong-Rong RR; Guan, Yan-Fang YF; Yi, Xin X; Lv, Tang-Feng TF; Zhu, Wei-Feng WF; Lu, Jian-Ping JP; Wang, Xiao-Jiang XJ; Shi, Yi Y; Lin, Xian-Dong XD; Chen, Gang G; Song, Yong Y

Publication Date: 2018-05

Variant appearance in text: RB1: G449E

PubMed Link: 29997966

Variant Present in the following documents:

• Main text

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Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Human Genetics

Cygan, Kamil J KJ; Soemedi, Rachel R; Rhine, Christy L CL; Profeta, Abraham A; Murphy, Eileen L EL; Murray, Michael F MF; Fairbrother, William G WG

Publication Date: 2017-09

Variant appearance in text: RB1: 1346G>A

PubMed Link: 28780672

Variant Present in the following documents:

• Main text

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: RB1: 1346G>A; G449E

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Molecular Vision

He, Ming-yan MY; An, Yu Y; Gao, Yi-jin YJ; Qian, Xiao-wen XW; Li, Gang G; Qian, Jiang J

Publication Date: 2014

Variant appearance in text: RB1: 1346G>A; G449E

PubMed Link: 24791139

Variant Present in the following documents:

• Main text
• mv-v20-545.pdf

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