Publications:

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: PTEN: Y225*

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: PTEN: Y225*

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: PTEN: Y225*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.xlsx, sheet 1

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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Molecular Autism

Guo, Hui H; Wang, Tianyun T; Wu, Huidan H; Long, Min M; Coe, Bradley P BP; Li, Honghui H; Xun, Guanglei G; Ou, Jianjun J; Chen, Biyuan B; Duan, Guiqin G; Bai, Ting T; Zhao, Ningxia N; Shen, Yidong Y; Li, Yun Y; Wang, Yazhe Y; Zhang, Yu Y; Baker, Carl C; Liu, Yanling Y; Pang, Nan N; Huang, Lian L; Han, Lin L; Jia, Xiangbin X; Liu, Cenying C; Ni, Hailun H; Yang, Xinyi X; Xia, Lu L; Chen, Jingjing J; Shen, Lu L; Li, Ying Y; Zhao, Rongjuan R; Zhao, Wenjing W; Peng, Jing J; Pan, Qian Q; Long, Zhigao Z; Su, Wei W; Tan, Jieqiong J; Du, Xiaogang X; Ke, Xiaoyan X; Yao, Meiling M; Hu, Zhengmao Z; Zou, Xiaobing X; Zhao, Jingping J; Bernier, Raphael A RA; Eichler, Evan E EE; Xia, Kun K

Publication Date: 2018

Variant appearance in text: PTEN: Y225X

PubMed Link: 30564305

Variant Present in the following documents:

• 13229_2018_247_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Patterns of genomic evolution in advanced melanoma.

Nature Communications

Birkeland, E E; Zhang, S S; Poduval, D D; Geisler, J J; Nakken, S S; Vodak, D D; Meza-Zepeda, L A LA; Hovig, E E; Myklebost, O O; Knappskog, S S; Lønning, P E PE

Publication Date: 2018-07-10

Variant appearance in text: PTEN: Y225X

PubMed Link: 29991680

Variant Present in the following documents:

• 41467_2018_5063_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 675T>A

PubMed Link: 29100278

Variant Present in the following documents:

• Main text
• oncotarget-08-75893.pdf

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Impact of PTEN abnormalities on outcome in pediatric patients with T-cell acute lymphoblastic leukemia treated on the MRC UKALL2003 trial.

Leukemia

Jenkinson, S S; Kirkwood, A A AA; Goulden, N N; Vora, A A; Linch, D C DC; Gale, R E RE

Publication Date: 2016-01

Variant appearance in text: PTEN: Y225X

PubMed Link: 26220040

Variant Present in the following documents:

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Mutational profiling of kinases in glioblastoma.

Bmc Cancer

Bleeker, Fonnet E FE; Lamba, Simona S; Zanon, Carlo C; Molenaar, Remco J RJ; Hulsebos, Theo J M TJ; Troost, Dirk D; van Tilborg, Angela A AA; Vandertop, W Peter WP; Leenstra, Sieger S; van Noorden, Cornelis J F CJ; Bardelli, Alberto A

Publication Date: 2014-09-26

Variant appearance in text: PTEN: Y225*

PubMed Link: 25256166

Variant Present in the following documents:

• Main text

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Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.

European Journal Of Human Genetics : Ejhg

Steffann, Julie J; Michot, Caroline C; Borghese, Roxana R; Baptista-Fernandes, Marcia M; Monnot, Sophie S; Bonnefont, Jean-Paul JP; Munnich, Arnold A

Publication Date: 2014-05

Variant appearance in text: PTEN: 675T>A; Tyr225*

PubMed Link: 24022303

Variant Present in the following documents:

• Main text

View BVdb publication page

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