PTEN c.442G>A ;(p.A148T)

Variant ID: 10-89692958-G-A

NM_000314.4(PTEN):c.442G>A;(p.A148T)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: PTEN: A148T
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



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: A148T
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
View BVdb publication page



Complete pathological response following chemotherapy and radiotherapy in two cases of advanced anaplastic thyroid carcinoma.

European Thyroid Journal
Chevalier, Benjamin B; Karleskind, Oriane O; Jannin, Arnaud A; Farchi, Olivier O; Vermaut, Catherine C; Escande, Alexandre A; Baillet, Clio C; Espiard, Stephanie S; Vantyghem, Marie-Christine MC; Carnaille, Bruno B; Leteurtre, Emmanuelle E; Do Cao, Christine C
Publication Date: 2022-11-01

Variant appearance in text: PTEN: 442G>A; Ala148Thr
PubMed Link: 36377723
Variant Present in the following documents:
  • Main text
  • ETJ-22-0111.pdf
View BVdb publication page



Deficiency of PTEN and CDKN2A Tumor-Suppressor Genes in Conventional and Chondroid Chordomas: Molecular Characteristics and Clinical Relevance.

Oncotargets And Therapy
Yang, Chenlong C; Sun, Jianjun J; Yong, Lei L; Liang, Chen C; Liu, Tie T; Xu, Yulun Y; Yang, Jun J; Liu, Xiaoguang X
Publication Date: 2020

Variant appearance in text: PTEN: 442G>A; Ala148Thr
PubMed Link: 32547095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer.

Journal Of Clinical Medicine
Casas-Arozamena, Carlos C; Díaz, Eva E; Moiola, Cristian Pablo CP; Alonso-Alconada, Lorena L; Ferreirós, Alba A; Abalo, Alicia A; Gil, Carlos López CL; Oltra, Sara S SS; de Santiago, Javier J; Cabrera, Silvia S; Sampayo, Victoria V; Bouso, Marta M; Arias, Efigenia E; Cueva, Juan J; Colas, Eva E; Vilar, Ana A; Gil-Moreno, Antonio A; Abal, Miguel M; Moreno-Bueno, Gema G; Muinelo-Romay, Laura L
Publication Date: 2020-02-21

Variant appearance in text: PTEN: 442G>A; Ala148Thr
PubMed Link: 32098121
Variant Present in the following documents:
  • jcm-09-00585-s001.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: A148T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013

Variant appearance in text: PTEN: A148T
PubMed Link: 24205039
Variant Present in the following documents:
  • pone.0077945.s001.xls, sheet 2
  • pone.0077945.s001.xls, sheet 3
View BVdb publication page



Identification of MET and SRC activation in melanoma cell lines showing primary resistance to PLX4032.

Neoplasia (New York, N.Y.)
Vergani, Elisabetta E; Vallacchi, Viviana V; Frigerio, Simona S; Deho, Paola P; Mondellini, Piera P; Perego, Paola P; Cassinelli, Giuliana G; Lanzi, Cinzia C; Testi, Maria Adele MA; Rivoltini, Licia L; Bongarzone, Italia I; Rodolfo, Monica M
Publication Date: 2011-12

Variant appearance in text: PTEN: A148T
PubMed Link: 22241959
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: A148T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page