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: 723dup; Glu242Ter

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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Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome.

Frontiers In Surgery

Zhao, Mingkun M; Lin, Xiaohan X; Fang, Yuan Y; Zhuang, Aobo A; Tong, Hanxing H; Lu, Weiqi W; Zhou, Yuhong Y; Zhang, Yong Y

Publication Date: 2022

Variant appearance in text: PTEN: E242fs

PubMed Link: 35903259

Variant Present in the following documents:

• Main text
• fsurg-09-935048.pdf

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: rs1060500115

PubMed Link: 35324914

Variant Present in the following documents:

• pone.0245817.s005.pdf

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The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers.

Nature Communications

Rosen, Ezra Y EY; Won, Helen H HH; Zheng, Youyun Y; Cocco, Emiliano E; Selcuklu, Duygu D; Gong, Yixiao Y; Friedman, Noah D ND; de Bruijn, Ino I; Sumer, Onur O; Bielski, Craig M CM; Savin, Casey C; Bourque, Caitlin C; Falcon, Christina C; Clarke, Nikeysha N; Jing, Xiaohong X; Meng, Fanli F; Zimel, Catherine C; Shifman, Sophie S; Kittane, Srushti S; Wu, Fan F; Ladanyi, Marc M; Ebata, Kevin K; Kherani, Jennifer J; Brandhuber, Barbara J BJ; Fagin, James J; Sherman, Eric J EJ; Rekhtman, Natasha N; Berger, Michael F MF; Scaltriti, Maurizio M; Hyman, David M DM; Taylor, Barry S BS; Drilon, Alexander A

Publication Date: 2022-03-18

Variant appearance in text: N/A

PubMed Link: 35304457

Variant Present in the following documents:

View BVdb publication page

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Multimodal liquid biopsy for early monitoring and outcome prediction of chemotherapy in metastatic breast cancer.

Npj Breast Cancer

Bortolini Silveira, Amanda A; Bidard, François-Clément FC; Tanguy, Marie-Laure ML; Girard, Elodie E; Trédan, Olivier O; Dubot, Coraline C; Jacot, William W; Goncalves, Anthony A; Debled, Marc M; Levy, Christelle C; Ferrero, Jean-Marc JM; Jouannaud, Christelle C; Rios, Maria M; Mouret-Reynier, Marie-Ange MA; Dalenc, Florence F; Hego, Caroline C; Rampanou, Aurore A; Albaud, Benoit B; Baulande, Sylvain S; Berger, Frédérique F; Lemonnier, Jérôme J; Renault, Shufang S; Desmoulins, Isabelle I; Proudhon, Charlotte C; Pierga, Jean-Yves JY

Publication Date: 2021-09-09

Variant appearance in text: PTEN: 721dupT

PubMed Link: 34504096

Variant Present in the following documents:

• 41523_2021_319_MOESM3_ESM.xlsx, sheet 1

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: PTEN: 723_724insT

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Tobacco smoking and somatic mutations in human bronchial epithelium.

Nature

Yoshida, Kenichi K; Gowers, Kate H C KHC; Lee-Six, Henry H; Chandrasekharan, Deepak P DP; Coorens, Tim T; Maughan, Elizabeth F EF; Beal, Kathryn K; Menzies, Andrew A; Millar, Fraser R FR; Anderson, Elizabeth E; Clarke, Sarah E SE; Pennycuick, Adam A; Thakrar, Ricky M RM; Butler, Colin R CR; Kakiuchi, Nobuyuki N; Hirano, Tomonori T; Hynds, Robert E RE; Stratton, Michael R MR; Martincorena, Iñigo I; Janes, Sam M SM; Campbell, Peter J PJ

Publication Date: 2020-02

Variant appearance in text: PTEN: 721dupT

PubMed Link: 31996850

Variant Present in the following documents:

• EMS85334-supplement-Supplementary_Tables_1_5.xlsx, sheet 5

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Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Cancers

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Piredda, Maria Liliana ML; Caffo, Maria M; Cardali, Salvatore Massimiliano SM; Germanò, Antonino A; Cingarlini, Sara S; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2019-08-30

Variant appearance in text: PTEN: 723dup; Glu242Ter

PubMed Link: 31480372

Variant Present in the following documents:

• cancers-11-01279-s001.xlsx, sheet 2

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New Challenges in Targeting Signaling Pathways in Acute Lymphoblastic Leukemia by NGS Approaches: An Update.

Cancers

Montaño, Adrián A; Forero-Castro, Maribel M; Marchena-Mendoza, Darnel D; Benito, Rocío R; Hernández-Rivas, Jesús María JM

Publication Date: 2018-04-07

Variant appearance in text: PTEN: Glu242fs

PubMed Link: 29642462

Variant Present in the following documents:

• Main text
• cancers-10-00110.pdf

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PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers.

Cancer Research And Treatment

Won, Hye Sung HS; Chang, Eun Deok ED; Na, Sae Jung SJ; Whang, In Yong IY; Lee, Dong Soo DS; You, Sun Hyong SH; Kim, Yong Seok YS; Kim, Jeong Soo JS

Publication Date: 2019-01

Variant appearance in text: PTEN: 723dupT; Glu242Terfs

PubMed Link: 29510612

Variant Present in the following documents:

• Main text
• crt-2017-579.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PTEN: 721_722insT; E242fs*1

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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