PTEN c.513G>T ;(p.Q171H)

Variant ID: 10-89711895-G-T

NM_000314.4(PTEN):c.513G>T;(p.Q171H)

This variant was identified in 9 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: Q171H
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
View BVdb publication page



Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Jto Clinical And Research Reports
Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL
Publication Date: 2022-04

Variant appearance in text: PTEN: Q171H
PubMed Link: 35392653
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2022-02

Variant appearance in text: PTEN: 513G>T; Gln171His
PubMed Link: 34918496
Variant Present in the following documents:
  • ADVS-9-2103360-s007.xlsx, sheet 2
  • ADVS-9-2103360-s002.xlsx, sheet 2
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: Q171H
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: PTEN: Gln171His
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.

Journal Of Clinical Medicine
Colombino, Maria M; Paliogiannis, Panagiotis P; Cossu, Antonio A; De Re, Valli V; Miolo, Gianmaria G; Botti, Gerardo G; Scognamiglio, Giosuè G; Ascierto, Paolo Antonio PA; Santeufemia, Davide Adriano DA; Fraggetta, Filippo F; Manca, Antonella A; Sini, Maria Cristina MC; Casula, Milena M; Palomba, Grazia G; Pisano, Marina M; Doneddu, Valentina V; Lissia, Amelia A; Fedeli, Maria Antonietta MA; Palmieri, Giuseppe G
Publication Date: 2019-10-01

Variant appearance in text: PTEN: 513G>T; Gln171His
PubMed Link: 31581559
Variant Present in the following documents:
  • jcm-08-01577-s001.pdf
View BVdb publication page



Genomic Heterogeneity and Exceptional Response to Dual Pathway Inhibition in Anaplastic Thyroid Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Gibson, William J WJ; Ruan, Daniel T DT; Paulson, Vera A VA; Barletta, Justine A JA; Hanna, Glenn J GJ; Kraft, Stefan S; Calles, Antonio A; Nehs, Matthew A MA; Moore, Francis D FD; Taylor-Weiner, Amaro A; Wala, Jeremiah A JA; Zack, Travis I TI; Lee, Thomas C TC; Fennessy, Fiona M FM; Alexander, Erik K EK; Thomas, Tom T; Janne, Pasi A PA; Garraway, Levi A LA; Carter, Scott L SL; Beroukhim, Rameen R; Lorch, Jochen H JH; Van Allen, Eliezer M EM
Publication Date: 2017-05-01

Variant appearance in text: PTEN: Q171H
PubMed Link: 27797976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: Q171H
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page