Publications:

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: rs786204910

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: PTEN: 49C>G; Q17E

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Recent advances in PTEN signalling axes in cancer.

Faculty Reviews

Chow, Jonathan Tak-Sum JT; Salmena, Leonardo L

Publication Date: 2020

Variant appearance in text: PTEN: Q17E

PubMed Link: 33659963

Variant Present in the following documents:

• Main text
• facrev-09-31.pdf

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Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.

The Febs Journal

Wong, Chi Wai CW; Wang, Yubing Y; Liu, Tian T; Li, Lisha L; Cheung, Stanley Kwok Kuen SKK; Or, Penelope Mei-Yu PM; Cheng, Alfred Sze-Lok AS; Choy, Kwong Wai KW; Burbach, Johannes Peter Henri JPH; Feng, Bo B; Chang, Raymond Chuen Chung RCC; Chan, Andrew M AM

Publication Date: 2020-11

Variant appearance in text: PTEN: Q17E

PubMed Link: 32150788

Variant Present in the following documents:

• Main text
• FEBS-287-4848.pdf

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A pathogenic role for germline PTEN variants which accumulate into the nucleus.

European Journal Of Human Genetics : Ejhg

Mingo, Janire J; Rodríguez-Escudero, Isabel I; Luna, Sandra S; Fernández-Acero, Teresa T; Amo, Laura L; Jonasson, Amy R AR; Zori, Roberto T RT; López, José I JI; Molina, María M; Cid, Víctor J VJ; Pulido, Rafael R

Publication Date: 2018-08

Variant appearance in text: PTEN: 49C>G; Gln17Glu

PubMed Link: 29706633

Variant Present in the following documents:

• Main text

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Opening the conformation is a master switch for the dual localization and phosphatase activity of PTEN.

Scientific Reports

Nguyen, Hoai-Nghia HN; Yang, Jr-Ming JM; Miyamoto, Takafumi T; Itoh, Kie K; Rho, Elmer E; Zhang, Qiang Q; Inoue, Takanari T; Devreotes, Peter N PN; Sesaki, Hiromi H; Iijima, Miho M

Publication Date: 2015-07-28

Variant appearance in text: PTEN: Q17E

PubMed Link: 26216063

Variant Present in the following documents:

• Main text

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KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg

Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C

Publication Date: 2015-11

Variant appearance in text: PTEN: 49C>G; Gln17Glu

PubMed Link: 25669429

Variant Present in the following documents:

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Engineering ePTEN, an enhanced PTEN with increased tumor suppressor activities.

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

Nguyen, Hoai-Nghia HN; Yang, Jr-Ming JM; Afkari, Yashar Y; Park, Ben Ho BH; Sesaki, Hiromi H; Devreotes, Peter N PN; Iijima, Miho M

Publication Date: 2014-07-01

Variant appearance in text: PTEN: Q17E

PubMed Link: 24979808

Variant Present in the following documents:

• Main text

View BVdb publication page

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