PTEN c.540C>G ;(p.Y180*)

Variant ID: 10-89711922-C-G

NM_000314.4(PTEN):c.540C>G;(p.Y180*)

This variant was identified in 11 publications

View GRCh38 version.




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: 540C>G; Tyr180Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Genome Medicine
Berrino, Enrico E; Annaratone, Laura L; Bellomo, Sara Erika SE; Ferrero, Giulio G; Gagliardi, Amedeo A; Bragoni, Alberto A; Grassini, Dora D; Guarrera, Simonetta S; Parlato, Caterina C; Casorzo, Laura L; Panero, Mara M; Sarotto, Ivana I; Giordano, Silvia S; Cereda, Matteo M; Montemurro, Filippo F; Ponzone, Riccardo R; Crosetto, Nicola N; Naccarati, Alessio A; Sapino, Anna A; Marchiò, Caterina C
Publication Date: 2022-08-29

Variant appearance in text: PTEN: Tyr180Ter
PubMed Link: 36038884
Variant Present in the following documents:
  • 13073_2022_1104_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Cell Death & Disease
Choi, Seung Won SW; Lee, Yeri Y; Shin, Kayoung K; Koo, Harim H; Kim, Donggeon D; Sa, Jason K JK; Cho, Hee Jin HJ; Shin, Hye-Mi HM; Lee, Se Jeong SJ; Kim, Hyunho H; Chung, Seok S; Shin, Jihye J; Lee, Cheolju C; Nam, Do-Hyun DH
Publication Date: 2021-04-07

Variant appearance in text: PTEN: 540C>G; Y180*
PubMed Link: 33828082
Variant Present in the following documents:
  • 41419_2021_3657_MOESM15_ESM.pdf
View BVdb publication page



Unique Genomic Landscape of High-Grade Neuroendocrine Cervical Carcinoma: Implications for Rethinking Current Treatment Paradigms.

Jco Precision Oncology
Eskander, Ramez N RN; Elvin, Julia J; Gay, Laurie L; Ross, Jeffrey S JS; Miller, Vincent A VA; Kurzrock, Razelle R
Publication Date: 2020

Variant appearance in text: PTEN: Y180*
PubMed Link: 33015532
Variant Present in the following documents:
  • PO.19.00248.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PTEN: Y180*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer.

Yonsei Medical Journal
Lee, Yong Jae YJ; Kim, Dachan D; Kim, Hyun Soo HS; Na, Kiyong K; Lee, Jung Yun JY; Nam, Eun Ji EJ; Kim, Sang Wun SW; Kim, Sunghoon S; Kim, Young Tae YT
Publication Date: 2019-10

Variant appearance in text: PTEN: 540C>G
PubMed Link: 31538426
Variant Present in the following documents:
  • Main text
  • ymj-60-914.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: PTEN: Y180*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Concordance between genomic alterations assessed by next-generation sequencing in tumor tissue or circulating cell-free DNA.

Oncotarget
Chae, Young Kwang YK; Davis, Andrew A AA; Carneiro, Benedito A BA; Chandra, Sunandana S; Mohindra, Nisha N; Kalyan, Aparna A; Kaplan, Jason J; Matsangou, Maria M; Pai, Sachin S; Costa, Ricardo R; Jovanovic, Borko B; Cristofanilli, Massimo M; Platanias, Leonidas C LC; Giles, Francis J FJ
Publication Date: 2016-10-04

Variant appearance in text: PTEN: Y180*
PubMed Link: 27588476
Variant Present in the following documents:
  • oncotarget-07-65364-s001.pdf
View BVdb publication page



Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Oncotarget
Jean, Stephanie S; Li, Jiaqi J; Katsaros, Dionyssios D; Wubbenhorst, Bradley B; Maxwell, Kara N KN; Fishbein, Lauren L; McLane, Michael W MW; Benedetto, Chiara C; Canuto, Emilie Marion EM; Mitra, Nandita N; Zhang, Lin L; Nathanson, Katherine L KL; Tanyi, Janos L JL
Publication Date: 2016-07-26

Variant appearance in text: PTEN: Y180X
PubMed Link: 27191893
Variant Present in the following documents:
  • oncotarget-07-48577-s002.xlsx, sheet 1
View BVdb publication page



Building a Robust Tumor Profiling Program: Synergy between Next-Generation Sequencing and Targeted Single-Gene Testing.

Plos One
Hiemenz, Matthew C MC; Kadauke, Stephan S; Lieberman, David B DB; Roth, David B DB; Zhao, Jianhua J; Watt, Christopher D CD; Daber, Robert D RD; Morrissette, Jennifer J D JJ
Publication Date: 2016

Variant appearance in text: PTEN: 540C>G; Y180X
PubMed Link: 27043212
Variant Present in the following documents:
  • pone.0152851.s001.xlsx, sheet 1
  • pone.0152851.s001.xlsx, sheet 2
View BVdb publication page



Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Oncotarget
Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S
Publication Date: 2016-04-19

Variant appearance in text: PTEN: Y180X
PubMed Link: 26933808
Variant Present in the following documents:
  • oncotarget-07-21556-s001.pdf
View BVdb publication page