PTEN c.52G>T ;(p.E18*)

Variant ID: 10-89624278-G-T

NM_000314.4(PTEN):c.52G>T;(p.E18*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Publication Date: 2022-12-05

Variant appearance in text: PTEN: E18*
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
View BVdb publication page



Genetic heterogeneity during breast cancer progression in young patients.

Breast (Edinburgh, Scotland)
Hagio, Kanako K; Hatanaka, Kanako C KC; Amano, Toraji T; Matsuno, Yoshihiro Y; Hatanaka, Yutaka Y; Yamashita, Hiroko H
Publication Date: 2021-10-28

Variant appearance in text: PTEN: E18*
PubMed Link: 34736091
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Genetic heterogeneity during breast cancer progression in young patients.

Breast (Edinburgh, Scotland)
Hagio, Kanako K; Hatanaka, Kanako C KC; Amano, Toraji T; Matsuno, Yoshihiro Y; Hatanaka, Yutaka Y; Yamashita, Hiroko H
Publication Date: 2021-12

Variant appearance in text: PTEN: E18*
PubMed Link: 34736091
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: PTEN: Glu18Ter
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: PTEN: 52G>T; E18*
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Synthetic Lethal Targeting of Mitotic Checkpoints in HPV-Negative Head and Neck Cancer.

Cancers
Deneka, Alexander Y AY; Einarson, Margret B MB; Bennett, John J; Nikonova, Anna S AS; Elmekawy, Mohamed M; Zhou, Yan Y; Lee, Jong Woo JW; Burtness, Barbara A BA; Golemis, Erica A EA
Publication Date: 2020-01-28

Variant appearance in text: PTEN: E18*
PubMed Link: 32012873
Variant Present in the following documents:
  • Main text
  • cancers-12-00306.pdf
View BVdb publication page