PTEN c.1028T>A ;(p.V343E)

Variant ID: 10-89725045-T-A

NM_000314.4(PTEN):c.1028T>A;(p.V343E)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: PTEN: V343E
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.

Journal Of Clinical Medicine
Serio, Viola Bianca VB; Palmieri, Maria M; Loberti, Lorenzo L; Granata, Stefania S; Fallerini, Chiara C; Vaghi, Massimo M; Renieri, Alessandra A; Pinto, Anna Maria AM
Publication Date: 2022-06-28

Variant appearance in text: PTEN: Val343Glu
PubMed Link: 35807022
Variant Present in the following documents:
  • jcm-11-03740.pdf
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: V343E
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer
Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY
Publication Date: 2020-10

Variant appearance in text: PTEN: V343E
PubMed Link: 33077514
Variant Present in the following documents:
  • jitc-2020-001199supp002.pdf
View BVdb publication page



A pan-cancer blueprint of the heterogeneous tumor microenvironment revealed by single-cell profiling.

Cell Research
Qian, Junbin J; Olbrecht, Siel S; Boeckx, Bram B; Vos, Hanne H; Laoui, Damya D; Etlioglu, Emre E; Wauters, Els E; Pomella, Valentina V; Verbandt, Sara S; Busschaert, Pieter P; Bassez, Ayse A; Franken, Amelie A; Bempt, Marlies Vanden MV; Xiong, Jieyi J; Weynand, Birgit B; van Herck, Yannick Y; Antoranz, Asier A; Bosisio, Francesca Maria FM; Thienpont, Bernard B; Floris, Giuseppe G; Vergote, Ignace I; Smeets, Ann A; Tejpar, Sabine S; Lambrechts, Diether D
Publication Date: 2020-09

Variant appearance in text: PTEN: V343E
PubMed Link: 32561858
Variant Present in the following documents:
  • 41422_2020_355_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of Somatic Mutation Profiles Between Formalin-Fixed Paraffin Embedded Tissues and Plasma Cell-Free DNA from Ovarian Cancer Patients Before and After Surgery.

Bioresearch Open Access
Jagelkova, Marianna M; Zelinova, Katarina K; Laucekova, Zuzana Z; Bobrovska, Martina M; Dankova, Zuzana Z; Grendar, Marian M; Dokus, Karol K
Publication Date: 2020

Variant appearance in text: PTEN: 1028T>A
PubMed Link: 32219013
Variant Present in the following documents:
  • Main text
  • biores.2019.0031.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PTEN: V343E
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers.

Plos Genetics
Yoo, Seong-Keun SK; Lee, Seungbok S; Kim, Su-Jin SJ; Jee, Hyeon-Gun HG; Kim, Byoung-Ae BA; Cho, Hyesun H; Song, Young Shin YS; Cho, Sun Wook SW; Won, Jae-Kyung JK; Shin, Jong-Yeon JY; Park, Do Joon do J; Kim, Jong-Il JI; Lee, Kyu Eun KE; Park, Young Joo YJ; Seo, Jeong-Sun JS
Publication Date: 2016-08

Variant appearance in text: PTEN: V343E
PubMed Link: 27494611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Oncoscience
Yakubov, Eduard E; Ghoochani, Ali A; Buslei, Rolf R; Buchfelder, Michael M; Eyüpoglu, Ilker Y IY; Savaskan, Nicolai N
Publication Date: 2016

Variant appearance in text: PTEN: 1028T>A
PubMed Link: 27489861
Variant Present in the following documents:
  • oncoscience-03-149-s001.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PTEN: V343E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics
Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR
Publication Date: 2015-02

Variant appearance in text: PTEN: V343E
PubMed Link: 25527629
Variant Present in the following documents:
  • jmedgenet-2014-102803-s1.pdf
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: V343E
PubMed Link: 24744697
Variant Present in the following documents:
  • Main text
  • fnmol-07-00023.pdf
View BVdb publication page



Germline PTEN mutations are rare and highly penetrant.

Hereditary Cancer In Clinical Practice
Rustad, Cecilie F CF; Bjørnslett, Merete M; Heimdal, Ketil R KR; Mæhle, Lovise L; Apold, Jaran J; Møller, Pål P
Publication Date: 2006-12-15

Variant appearance in text: PTEN: 1028T>A
PubMed Link: 20223021
Variant Present in the following documents:
  • Main text
  • 1897-4287-4-4-177.pdf
View BVdb publication page



GLTSCR2/PICT-1, a putative tumor suppressor gene product, induces the nucleolar targeting of the Kaposi's sarcoma-associated herpesvirus KS-Bcl-2 protein.

Journal Of Virology
Kalt, Inna I; Borodianskiy-Shteinberg, Tatyana T; Schachor, Adi A; Sarid, Ronit R
Publication Date: 2010-03

Variant appearance in text: PTEN: V343E
PubMed Link: 20042497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protean PTEN: form and function.

American Journal Of Human Genetics
Waite, Kristin A KA; Eng, Charis C
Publication Date: 2002-04

Variant appearance in text: PTEN: V343E
PubMed Link: 11875759
Variant Present in the following documents:
  • Main text
View BVdb publication page