Publications:

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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: PTEN: 940G>T; Glu314Ter

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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Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.

Plos One

Williams, Gareth G; Llewelyn, Alexander A; Thatcher, Robert R; Hardisty, Keeda-Marie KM; Loddo, Marco M

Publication Date: 2022

Variant appearance in text: PTEN: 940G>T; Glu314Ter

PubMed Link: 35324914

Variant Present in the following documents:

• pone.0245817.s005.pdf

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: PTEN: 940G>T; E314*

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Frontiers In Oncology

Li, Hainan H; Shan, Changguo C; Wu, Shengnan S; Cheng, Baijie B; Fan, Chongzu C; Cai, Linbo L; Chen, Yedan Y; Shi, Yuqian Y; Liu, Kaihua K; Shao, Yang Y; Zhu, Dan D; Li, Zhi Z

Publication Date: 2020

Variant appearance in text: PTEN: E314*

PubMed Link: 33747896

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine

Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M

Publication Date: 2020-11

Variant appearance in text: PTEN: 940G>T; E314X

PubMed Link: 33096476

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: PTEN: E314X

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

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Precision oncology for gallbladder cancer: insights from genetic alterations and clinical practice.

Annals Of Translational Medicine

Lin, Jianzhen J; Dong, Kun K; Bai, Yi Y; Zhao, Songhui S; Dong, Yonghong Y; Shi, Junping J; Shi, Weiwei W; Long, Junyu J; Yang, Xu X; Wang, Dongxu D; Yang, Xiaobo X; Zhao, Lin L; Hu, Ke K; Pan, Jie J; Sang, Xinting X; Wang, Kai K; Zhao, Haitao H

Publication Date: 2019-09

Variant appearance in text: PTEN: E314*

PubMed Link: 31700903

Variant Present in the following documents:

• Main text

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Somatic mutations in salivary duct carcinoma and potential therapeutic targets.

Oncotarget

Khoo, Timothy K TK; Yu, Bing B; Smith, Joel A JA; Clarke, Angus J AJ; Luk, Peter P PP; Selinger, Christina I CI; Mahon, Kate L KL; Kraitsek, Spiridoula S; Palme, Carsten C; Boyer, Michael J MJ; Dinger, Marcel E ME; Cowley, Mark J MJ; O'Toole, Sandra A SA; Clark, Jonathan R JR; Gupta, Ruta R

Publication Date: 2017-09-29

Variant appearance in text: PTEN: 940G>T

PubMed Link: 29100278

Variant Present in the following documents:

• Main text
• oncotarget-08-75893.pdf

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Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.

British Journal Of Cancer

Deb, S S; Wong, S Q SQ; Li, J J; Do, H H; Weiss, J J; Byrne, D D; Chakrabarti, A A; Bosma, T T; , ; Fellowes, A A; Dobrovic, A A; Fox, S B SB

Publication Date: 2014-12-09

Variant appearance in text: PTEN: E314*

PubMed Link: 25490678

Variant Present in the following documents:

• Main text
• bjc2014511a.pdf

View BVdb publication page

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