PTEN c.834C>G ;(p.F278L)

Variant ID: 10-89720683-C-G

NM_000314.4(PTEN):c.834C>G;(p.F278L)

This variant was identified in 19 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: rs867171992
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
View BVdb publication page



Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects.

Nature Medicine
Robertson, Neil A NA; Latorre-Crespo, Eric E; Terradas-Terradas, Maria M; Lemos-Portela, Jorge J; Purcell, Alison C AC; Livesey, Benjamin J BJ; Hillary, Robert F RF; Murphy, Lee L; Fawkes, Angie A; MacGillivray, Louise L; Copland, Mhairi M; Marioni, Riccardo E RE; Marsh, Joseph A JA; Harris, Sarah E SE; Cox, Simon R SR; Deary, Ian J IJ; Schumacher, Linus J LJ; Kirschner, Kristina K; Chandra, Tamir T
Publication Date: 2022-07

Variant appearance in text: PTEN: F278L
PubMed Link: 35788175
Variant Present in the following documents:
  • 41591_2022_1883_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Sequencing of Cutaneous Squamous Cell Carcinoma Primary Tumors and Patient-Matched Metastases Reveals ALK as a Potential Driver in Metastases and Low Mutational Concordance in Immunocompromised Patients.

Jid Innovations : Skin Science From Molecules To Population Health
Lobl, Marissa B MB; Clarey, Dillon D DD; Higgins, Shauna S; Sutton, Adam A; Wysong, Ashley A
Publication Date: 2022-07

Variant appearance in text: PTEN: 834C>G; F278L
PubMed Link: 35620707
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Case Report: Giant Paraganglioma of the Skull Base With Two Somatic Mutations in SDHB and PTEN Genes.

Frontiers In Endocrinology
Main, Ailsa Maria AM; Benndorf, Götz G; Feldt-Rasmussen, Ulla U; Fugleholm, Kåre K; Kistorp, Thomas T; Loya, Anand C AC; Poulsgaard, Lars L; Rasmussen, Åse Krogh ÅK; Rossing, Maria M; Sølling, Christine C; Klose, Marianne Christina MC
Publication Date: 2022

Variant appearance in text: PTEN: 834C>G; F278L
PubMed Link: 35498434
Variant Present in the following documents:
  • Main text
  • fendo-13-857504.pdf
View BVdb publication page



Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Cell Biology International
Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; Gafà, Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G
Publication Date: 2022-07

Variant appearance in text: rs867171992
PubMed Link: 35347810
Variant Present in the following documents:
  • CBIN-46-1047-s001.xlsx, sheet 1
View BVdb publication page



Follicular lymphoma grade 3B and diffuse large B-cell lymphoma present a histopathological and molecular continuum lacking features of progression/ transformation.

Haematologica
Koch, Karoline K; Richter, Julia J; Hanel, Christoph C; Huttmann, Andreas A; Duhrsen, Ulrich U; Klapper, Wolfram W
Publication Date: 2022-09-01

Variant appearance in text: PTEN: 834C>G; Phe278Leu; rs867171992
PubMed Link: 35021600
Variant Present in the following documents:
  • 2021_279351_KOCK_TAB2_SUPPL.xlsx, sheet 1
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: PTEN: 834C>G; Phe278Leu
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: PTEN: 834C>G; F278L; rs867171992
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics
Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X
Publication Date: 2021-05-17

Variant appearance in text: PTEN: F278L
PubMed Link: 34001105
Variant Present in the following documents:
  • 12920_2021_979_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



IGLV3-21 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Maity, Palash C PC; Bilal, Mayas M; Koning, Marvyn T MT; Young, Marc M; van Bergen, Cornelis A M CAM; Renna, Valerio V; Nicolò, Antonella A; Datta, Moumita M; Gentner-Göbel, Eva E; Barendse, Rob S RS; Somers, Sebastiaan F SF; de Groen, Ruben A L RAL; Vermaat, Joost S P JSP; Steinbrecher, Daniela D; Schneider, Christof C; Tausch, Eugen E; Bittolo, Tamara T; Bomben, Riccardo R; Mazzarello, Andrea Nicola AN; Del Poeta, Giovanni G; Kroes, Wilma G M WGM; van Wezel, J Tom JT; Imkeller, Katharina K; Busse, Christian E CE; Degano, Massimo M; Bakchoul, Tamam T; Schulz, Axel Ronald AR; Mei, Henrik H; Ghia, Paolo P; Kotta, Konstantia K; Stamatopoulos, Kostas K; Wardemann, Hedda H; Zucchetto, Antonella A; Chiorazzi, Nicholas N; Gattei, Valter V; Stilgenbauer, Stephan S; Veelken, Hendrik H; Jumaa, Hassan H
Publication Date: 2020-02-25

Variant appearance in text: PTEN: F278L
PubMed Link: 32047037
Variant Present in the following documents:
  • pnas.1913810117.sapp.pdf
View BVdb publication page



Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18

Variant appearance in text: PTEN: F278L
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery.

Brain Pathology (Zurich, Switzerland)
Benova, Barbora B; Jacques, Thomas S TS
Publication Date: 2019-07

Variant appearance in text: PTEN: 834C>G; F278L
PubMed Link: 30485578
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overlap at the molecular and immunohistochemical levels between angioimmunoblastic T-cell lymphoma and a subgroup of peripheral T-cell lymphomas without specific morphological features.

Oncotarget
Manso, Rebeca R; González-Rincón, Julia J; Rodríguez-Justo, Manuel M; Roncador, Giovanna G; Gómez, Sagrario S; Sánchez-Beato, Margarita M; Piris, Miguel A MA; Rodríguez-Pinilla, Socorro M SM
Publication Date: 2018-03-23

Variant appearance in text: PTEN: 834C>G; Phe278Leu
PubMed Link: 29662631
Variant Present in the following documents:
  • oncotarget-09-16124-s002.xls, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: PTEN: F278L
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Leukemia
Pillonel, V V; Juskevicius, D D; Ng, C K Y CKY; Bodmer, A A; Zettl, A A; Jucker, D D; Dirnhofer, S S; Tzankov, A A
Publication Date: 2018-11

Variant appearance in text: PTEN: 834C>G; Phe278Leu
PubMed Link: 29556019
Variant Present in the following documents:
  • 41375_2018_82_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

Scientific Reports
de Unamuno Bustos, Blanca B; Murria Estal, Rosa R; Pérez Simó, Gema G; de Juan Jimenez, Inmaculada I; Escutia Muñoz, Begoña B; Rodríguez Serna, Mercedes M; Alegre de Miquel, Victor V; Llavador Ros, Margarita M; Ballester Sánchez, Rosa R; Nagore Enguídanos, Eduardo E; Palanca Suela, Sarai S; Botella Estrada, Rafael R
Publication Date: 2017-03-29

Variant appearance in text: PTEN: F278L
PubMed Link: 28356599
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_606.pdf
  • 41598_2017_606_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Journal Of Hematology & Oncology
Juskevicius, Darius D; Jucker, David D; Klingbiel, Dirk D; Mamot, Christoph C; Dirnhofer, Stephan S; Tzankov, Alexandar A
Publication Date: 2017-03-17

Variant appearance in text: PTEN: 834C>G; Phe278Leu
PubMed Link: 28302137
Variant Present in the following documents:
  • 13045_2017_438_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Meta-Analysis of the Luminal and Basal Subtypes of Bladder Cancer and the Identification of Signature Immunohistochemical Markers for Clinical Use.

Ebiomedicine
Dadhania, Vipulkumar V; Zhang, Miao M; Zhang, Li L; Bondaruk, Jolanta J; Majewski, Tadeusz T; Siefker-Radtke, Arlene A; Guo, Charles C CC; Dinney, Colin C; Cogdell, David E DE; Zhang, Shizhen S; Lee, Sangkyou S; Lee, June G JG; Weinstein, John N JN; Baggerly, Keith K; McConkey, David D; Czerniak, Bogdan B
Publication Date: 2016-10

Variant appearance in text: PTEN: F278L
PubMed Link: 27612592
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



A clinically applicable molecular-based classification for endometrial cancers.

British Journal Of Cancer
Talhouk, A A; McConechy, M K MK; Leung, S S; Li-Chang, H H HH; Kwon, J S JS; Melnyk, N N; Yang, W W; Senz, J J; Boyd, N N; Karnezis, A N AN; Huntsman, D G DG; Gilks, C B CB; McAlpine, J N JN
Publication Date: 2015-07-14

Variant appearance in text: PTEN: F278L
PubMed Link: 26172027
Variant Present in the following documents:
  • bjc2015190x5.xls, sheet 1
View BVdb publication page