Publications:

---

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: 416T>G; Leu139Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: PTEN: 416T>G; L139*

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Frontiers In Immunology

Guevara-Hoyer, Kissy K; Fuentes-Antrás, Jesús J; de la Fuente-Muñoz, Eduardo E; Fernández-Arquero, Miguel M; Solano, Fernando F; Pérez-Segura, Pedro P; Neves, Esmeralda E; Ocaña, Alberto A; Pérez de Diego, Rebeca R; Sánchez-Ramón, Silvia S

Publication Date: 2022

Variant appearance in text: PTEN: L139*

PubMed Link: 35990641

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 2

View BVdb publication page

---

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: PTEN: L139*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: PTEN: L139*

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

View BVdb publication page

---

Drug combination screening as a translational approach toward an improved drug therapy for chordoma.

Cellular Oncology (Dordrecht)

Scheipl, Susanne S; Barnard, Michelle M; Lohberger, Birgit B; Zettl, Richard R; Brcic, Iva I; Liegl-Atzwanger, Bernadette B; Rinner, Beate B; Meindl, Claudia C; Fröhlich, Eleonore E

Publication Date: 2021-12

Variant appearance in text: PTEN: L139*

PubMed Link: 34550531

Variant Present in the following documents:

• Main text
• 13402_2021_Article_632.pdf

View BVdb publication page

---

Genetic alteration of Chinese patients with rectal mucosal melanoma.

Bmc Cancer

Li, Huan H; Yang, Lujing L; Lai, Yumei Y; Wang, Xintong X; Han, Xinyin X; Liu, Siyao S; Wang, Dongliang D; Li, Xiaojuan X; Hu, Nana N; Kong, Yan Y; Si, Lu L; Li, Zhongwu Z

Publication Date: 2021-05-27

Variant appearance in text: PTEN: 416T>G; L139*

PubMed Link: 34044811

Variant Present in the following documents:

• 12885_2021_8383_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: PTEN: L139*

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

---

Rationale for the advancement of PI3K pathway inhibitors for personalized chordoma therapy.

Journal Of Neuro-Oncology

Michmerhuizen, N L NL; Owen, J H JH; Heft Neal, M E ME; Mann, J E JE; Leonard, E E; Wang, J J; Zhai, J J; Jiang, H H; McHugh, J B JB; Brenner, J C JC; Prince, M E P MEP

Publication Date: 2020-03

Variant appearance in text: PTEN: L139X

PubMed Link: 32067197

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences

Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E

Publication Date: 2019-10-03

Variant appearance in text: PTEN: Leu139Ter

PubMed Link: 31623367

Variant Present in the following documents:

• Main text
• brainsci-09-00265.pdf

View BVdb publication page

---

PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.

Medical Journal Of The Islamic Republic Of Iran

Zahedi Abghari, Fateme F; Moradi, Yousef Y; Akouchekian, Mansoureh M

Publication Date: 2019

Variant appearance in text: PTEN: L139X

PubMed Link: 31086789

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Next-Generation Sequencing of Circulating Tumor DNA Reveals Frequent Alterations in Advanced Hepatocellular Carcinoma.

The Oncologist

Ikeda, Sadakatsu S; Tsigelny, Igor F IF; Skjevik, Åge A ÅA; Kono, Yuko Y; Mendler, Michel M; Kuo, Alexander A; Sicklick, Jason K JK; Heestand, Gregory G; Banks, Kimberly C KC; Talasaz, AmirAli A; Lanman, Richard B RB; Lippman, Scott S; Kurzrock, Razelle R

Publication Date: 2018-05

Variant appearance in text: PTEN: L139*

PubMed Link: 29487225

Variant Present in the following documents:

• Main text
• onco12404.pdf

View BVdb publication page

---

Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.

Molecular Cancer Therapeutics

Ikeda, Sadakatsu S; Lim, Jordan S JS; Kurzrock, Razelle R

Publication Date: 2018-05

Variant appearance in text: PTEN: L139*

PubMed Link: 29483209

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The driver landscape of sporadic chordoma.

Nature Communications

Tarpey, Patrick S PS; Behjati, Sam S; Young, Matthew D MD; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Farndon, Sarah J SJ; Guzzo, Charlotte C; Hardy, Claire C; Latimer, Calli C; Butler, Adam P AP; Teague, Jon W JW; Shlien, Adam A; Futreal, P Andrew PA; Shah, Sohrab S; Bashashati, Ali A; Jamshidi, Farzad F; Nielsen, Torsten O TO; Huntsman, David D; Baumhoer, Daniel D; Brandner, Sebastian S; Wunder, Jay J; Dickson, Brendan B; Cogswell, Patricia P; Sommer, Josh J; Phillips, Joanna J JJ; Amary, M Fernanda MF; Tirabosco, Roberto R; Pillay, Nischalan N; Yip, Stephen S; Stratton, Michael R MR; Flanagan, Adrienne M AM; Campbell, Peter J PJ

Publication Date: 2017-10-12

Variant appearance in text: PTEN: L139*

PubMed Link: 29026114

Variant Present in the following documents:

• 41467_2017_1026_MOESM1_ESM.pdf

View BVdb publication page

---

Prognostic implication of histological features associated with EHD2 expression in papillary thyroid carcinoma.

Plos One

Kim, Yourha Y; Kim, Min-Hee MH; Jeon, Sora S; Kim, Jeeyoon J; Kim, Chankyung C; Bae, Ja Seong JS; Jung, Chan Kwon CK

Publication Date: 2017

Variant appearance in text: PTEN: L139*

PubMed Link: 28358874

Variant Present in the following documents:

• pone.0174737.s001.xlsx, sheet 1

View BVdb publication page

---

Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.

Nature Communications

Chen, Ying-Bei YB; Xu, Jianing J; Skanderup, Anders Jacobsen AJ; Dong, Yiyu Y; Brannon, A Rose AR; Wang, Lu L; Won, Helen H HH; Wang, Patricia I PI; Nanjangud, Gouri J GJ; Jungbluth, Achim A AA; Li, Wei W; Ojeda, Virginia V; Hakimi, A Ari AA; Voss, Martin H MH; Schultz, Nikolaus N; Motzer, Robert J RJ; Russo, Paul P; Cheng, Emily H EH; Giancotti, Filippo G FG; Lee, William W; Berger, Michael F MF; Tickoo, Satish K SK; Reuter, Victor E VE; Hsieh, James J JJ

Publication Date: 2016-10-07

Variant appearance in text: PTEN: L139*

PubMed Link: 27713405

Variant Present in the following documents:

• ncomms13131-s3.xlsx, sheet 1
• ncomms13131-s3.xlsx, sheet 2

View BVdb publication page

---

Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects.

International Journal Of Molecular Sciences

Granata, Simona S; Dalla Gassa, Alessandra A; Carraro, Amedeo A; Brunelli, Matteo M; Stallone, Giovanni G; Lupo, Antonio A; Zaza, Gianluigi G

Publication Date: 2016-05-14

Variant appearance in text: PTEN: L139X

PubMed Link: 27187382

Variant Present in the following documents:

• Main text
• ijms-17-00735.pdf

View BVdb publication page

---

Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Karnezis, Anthony N AN; Hoang, Lien N LN; Coatham, Mackenzie M; Ravn, Sarah S; Almadani, Noorah N; Tessier-Cloutier, Basile B; Irving, Julie J; Meng, Bo B; Li, Xiaodong X; Chow, Christine C; McAlpine, Jessica J; Kuo, Kuan-Ting KT; Mao, Tsui-Lien TL; Djordjevic, Bojana B; Soslow, Robert A RA; Huntsman, David G DG; Blake Gilks, C C; Köbel, Martin M; Lee, Cheng-Han CH

Publication Date: 2016-03

Variant appearance in text: PTEN: L139X

PubMed Link: 26743474

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomic landscape of salivary gland tumors.

Oncotarget

Kato, Shumei S; Elkin, Sheryl K SK; Schwaederle, Maria M; Tomson, Brett N BN; Helsten, Teresa T; Carter, Jennifer L JL; Kurzrock, Razelle R

Publication Date: 2015-09-22

Variant appearance in text: PTEN: L139*

PubMed Link: 26247885

Variant Present in the following documents:

• oncotarget-06-25631-s002.xlsx, sheet 1

View BVdb publication page

---

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: 416T>G; Leu139*

PubMed Link: 25669429

Variant Present in the following documents:

View BVdb publication page

---

Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

Frontiers In Molecular Neuroscience

Kreis, Patricia P; Leondaritis, George G; Lieberam, Ivo I; Eickholt, Britta J BJ

Publication Date: 2014

Variant appearance in text: PTEN: L139X

PubMed Link: 24744697

Variant Present in the following documents:

• Main text
• fnmol-07-00023.pdf

View BVdb publication page

---

Alterations of INPP4B, PIK3CA and pAkt of the PI3K pathway are associated with squamous cell carcinoma of the lung.

Cancer Medicine

Stjernström, Annika A; Karlsson, Christina C; Fernandez, Oswaldo J OJ; Söderkvist, Peter P; Karlsson, Mats G MG; Thunell, Lena K LK

Publication Date: 2014-04

Variant appearance in text: PTEN: L139X

PubMed Link: 24500884

Variant Present in the following documents:

• Main text
• cam40003-0337.pdf

View BVdb publication page

---

Sensitivity to the MEK inhibitor E6201 in melanoma cells is associated with mutant BRAF and wildtype PTEN status.

Molecular Cancer

Byron, Sara A SA; Loch, David C DC; Wellens, Candice L CL; Wortmann, Andreas A; Wu, Jiayi J; Wang, John J; Nomoto, Kenichi K; Pollock, Pamela M PM

Publication Date: 2012-10-05

Variant appearance in text: PTEN: L139X

PubMed Link: 23039341

Variant Present in the following documents:

• Main text
• 1476-4598-11-75.pdf

View BVdb publication page

---

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

Japanese Journal Of Cancer Research : Gann

Sawada, T T; Hamano, N N; Satoh, H H; Okada, T T; Takeda, Y Y; Mabuchi, H H

Publication Date: 2000-07

Variant appearance in text: PTEN: L139X

PubMed Link: 10920277

Variant Present in the following documents:

• CAS-91-700.pdf

View BVdb publication page

---