PTEN c.101C>A ;(p.A34D)

Variant ID: 10-89653803-C-A

NM_000314.4(PTEN):c.101C>A;(p.A34D)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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: A34D
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: A34D
PubMed Link: 33077514
Variant Present in the following documents:
  • jitc-2020-001199supp002.pdf
View BVdb publication page



Molecular analysis of circulating tumor DNA from breast cancer patients before and after surgery and following adjuvant chemotherapy.

Molecular And Clinical Oncology
Zelinova, Katarina K; Jagelkova, Marianna M; Laucekova, Zuzana Z; Bobrovska, Martina M; Dankova, Zuzana Z; Grendar, Marian M; Dokus, Karol K
Publication Date: 2020-10

Variant appearance in text: PTEN: 101C>A
PubMed Link: 32765873
Variant Present in the following documents:
  • Main text
  • mco-13-04-02096.pdf
  • Supplementary_Data.pdf
View BVdb publication page



Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications
Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K
Publication Date: 2020-04-29

Variant appearance in text: PTEN: A34D
PubMed Link: 32350270
Variant Present in the following documents:
  • 41467_2020_Article_15943.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: A34D
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Multiscale, multimodal analysis of tumor heterogeneity in IDH1 mutant vs wild-type diffuse gliomas.

Plos One
Berens, Michael E ME; Sood, Anup A; Barnholtz-Sloan, Jill S JS; Graf, John F JF; Cho, Sanghee S; Kim, Seungchan S; Kiefer, Jeffrey J; Byron, Sara A SA; Halperin, Rebecca F RF; Nasser, Sara S; Adkins, Jonathan J; Cuyugan, Lori L; Devine, Karen K; Ostrom, Quinn Q; Couce, Marta M; Wolansky, Leo L; McDonough, Elizabeth E; Schyberg, Shannon S; Dinn, Sean S; Sloan, Andrew E AE; Prados, Michael M; Phillips, Joanna J JJ; Nelson, Sarah J SJ; Liang, Winnie S WS; Al-Kofahi, Yousef Y; Rusu, Mirabela M; Zavodszky, Maria I MI; Ginty, Fiona F
Publication Date: 2019

Variant appearance in text: PTEN: A34D
PubMed Link: 31881020
Variant Present in the following documents:
  • Main text
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: A34D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.

Plos One
Gil, Anabel A; Rodríguez-Escudero, Isabel I; Stumpf, Miriam M; Molina, María M; Cid, Víctor J VJ; Pulido, Rafael R
Publication Date: 2015

Variant appearance in text: PTEN: A34D
PubMed Link: 25875300
Variant Present in the following documents:
  • Main text
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: A34D
PubMed Link: 25527629
Variant Present in the following documents:
  • jmedgenet-2014-102803-s1.pdf
View BVdb publication page



PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.

The American Journal Of Surgical Pathology
Kurek, Kyle C KC; Howard, Emily E; Tennant, L B LB; Upton, Joseph J; Alomari, Ahmad I AI; Burrows, Patricia E PE; Chalache, Kim K; Harris, David J DJ; Trenor, Cameron C CC; Eng, Charis C; Fishman, Steven J SJ; Mulliken, John B JB; Perez-Atayde, Antonio R AR; Kozakewich, Harry P W HP
Publication Date: 2012-05

Variant appearance in text: PTEN: A34D
PubMed Link: 22446940
Variant Present in the following documents:
  • Main text
View BVdb publication page



The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

Journal Of Medical Genetics
Tan, Wen-Hann WH; Baris, Hagit N HN; Burrows, Patricia E PE; Robson, Caroline D CD; Alomari, Ahmad I AI; Mulliken, John B JB; Fishman, Steven J SJ; Irons, Mira B MB
Publication Date: 2007-09

Variant appearance in text: PTEN: A34D
PubMed Link: 17526801
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.

Neoplasia (New York, N.Y.)
Marsh, D J DJ; Theodosopoulos, G G; Howell, V V; Richardson, A L AL; Benn, D E DE; Proos, A L AL; Eng, C C; Robinson, B G BG
Publication Date: 2001

Variant appearance in text: PTEN: A34D
PubMed Link: 11494117
Variant Present in the following documents:
  • Main text
View BVdb publication page