NF1 c.3822_3823del ;(p.F1275Pfs*8)

Variant ID: 17-29562737-ACT-A

NM_001042492.2(NF1):c.3822_3823del;(p.F1275Pfs*8)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: NF1: 3822_3823delCT; Phe1275fs
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Neuro-Oncology
Zhang, Yalan Y; Lucas, Calixto-Hope G CG; Young, Jacob S JS; Morshed, Ramin A RA; McCoy, Lucie L; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Daras, Mariza M; Butowski, Nicholas A NA; Villanueva-Meyer, Javier E JE; Cha, Soonmee S; Wrensch, Margaret M; Wiencke, John K JK; Lee, Julieann C JC; Pekmezci, Melike M; Phillips, Joanna J JJ; Perry, Arie A; Bollen, Andrew W AW; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward F EF; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Clarke, Jennifer L JL; Chang, Susan M SM; Molinaro, Annette M AM; Solomon, David A DA
Publication Date: 2022-10-03

Variant appearance in text: NF1: 3818_3819del
PubMed Link: 35395677
Variant Present in the following documents:
  • noac089_suppl_supplementary_tables_s1-s11.xlsx, sheet 5
View BVdb publication page



IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24

Variant appearance in text: NF1: 3822_3823del
PubMed Link: 34952640
Variant Present in the following documents:
  • 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24

Variant appearance in text: NF1: 3822_3823del
PubMed Link: 34952640
Variant Present in the following documents:
  • 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery
Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP
Publication Date: 2022-01

Variant appearance in text: NF1: 3822_3823del
PubMed Link: 34610950
Variant Present in the following documents:
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 80
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 81
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 81
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 82
View BVdb publication page



Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.

Familial Cancer
Schwermer, Miriam M; Behnert, Astrid A; Dörgeloh, Beate B; Ripperger, Tim T; Kratz, Christian P CP
Publication Date: 2021-10

Variant appearance in text: NF1: 3822_3823del; Phe1275Profs*8
PubMed Link: 33651299
Variant Present in the following documents:
  • Main text
  • 10689_2021_Article_233.pdf
View BVdb publication page



Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.

Familial Cancer
Schwermer, Miriam M; Behnert, Astrid A; Dörgeloh, Beate B; Ripperger, Tim T; Kratz, Christian P CP
Publication Date: 2021-10

Variant appearance in text: NF1: 3822_3823del; Phe1275Profs*8
PubMed Link: 33651299
Variant Present in the following documents:
  • Main text
  • 10689_2021_Article_233.pdf
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: NF1: 3822_3823del; Phe1275ProfsTer8
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page