PTEN c.165dup ;(p.F56Vfs*7)

Variant ID: 10-89685268-A-AG

NM_000314.4(PTEN):c.165dup;(p.F56Vfs*7)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: N/A
PubMed Link: 33106165
Variant Present in the following documents:
View BVdb publication page



A Rare Complex BRAF Mutation Involving Codon V600 and K601 in Primary Cutaneous Melanoma: Case Report.

Frontiers In Oncology
Consoli, Francesca F; Barbieri, Gianluca G; Picciolini, Matteo M; Medicina, Daniela D; Bugatti, Mattia M; Tovazzi, Valeria V; Liserre, Barbara B; Zambelli, Claudia C; Zorzi, Fausto F; Berruti, Alfredo A; Giurisato, Emanuele E; Vermi, William W
Publication Date: 2020

Variant appearance in text: PTEN: Phe56Valfs
PubMed Link: 32754440
Variant Present in the following documents:
  • Main text
  • fonc-10-01056.pdf
View BVdb publication page



Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.

Nature Communications
Adalsteinsson, Viktor A VA; Ha, Gavin G; Freeman, Samuel S SS; Choudhury, Atish D AD; Stover, Daniel G DG; Parsons, Heather A HA; Gydush, Gregory G; Reed, Sarah C SC; Rotem, Denisse D; Rhoades, Justin J; Loginov, Denis D; Livitz, Dimitri D; Rosebrock, Daniel D; Leshchiner, Ignaty I; Kim, Jaegil J; Stewart, Chip C; Rosenberg, Mara M; Francis, Joshua M JM; Zhang, Cheng-Zhong CZ; Cohen, Ofir O; Oh, Coyin C; Ding, Huiming H; Polak, Paz P; Lloyd, Max M; Mahmud, Sairah S; Helvie, Karla K; Merrill, Margaret S MS; Santiago, Rebecca A RA; O'Connor, Edward P EP; Jeong, Seong H SH; Leeson, Rachel R; Barry, Rachel M RM; Kramkowski, Joseph F JF; Zhang, Zhenwei Z; Polacek, Laura L; Lohr, Jens G JG; Schleicher, Molly M; Lipscomb, Emily E; Saltzman, Andrea A; Oliver, Nelly M NM; Marini, Lori L; Waks, Adrienne G AG; Harshman, Lauren C LC; Tolaney, Sara M SM; Van Allen, Eliezer M EM; Winer, Eric P EP; Lin, Nancy U NU; Nakabayashi, Mari M; Taplin, Mary-Ellen ME; Johannessen, Cory M CM; Garraway, Levi A LA; Golub, Todd R TR; Boehm, Jesse S JS; Wagle, Nikhil N; Getz, Gad G; Love, J Christopher JC; Meyerson, Matthew M
Publication Date: 2017-11-06

Variant appearance in text: N/A
PubMed Link: 29109393
Variant Present in the following documents:
View BVdb publication page



Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Human Mutation
Chen, Hannah Jinlian HJ; Romigh, Todd T; Sesock, Kaitlin K; Eng, Charis C
Publication Date: 2017-10

Variant appearance in text: PTEN: Phe56Valfs
PubMed Link: 28677221
Variant Present in the following documents:
  • Main text
  • HUMU-38-1372.pdf
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: N/A
PubMed Link: 28267273
Variant Present in the following documents:
View BVdb publication page