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Deleterious NF1 Gene Mutation

MedGen UID:
1758953
•Concept ID:
C5419600
•
Cell or Molecular Dysfunction
Synonyms: Deleterious Neurofibromin 1 Gene Mutation; Deleterious NF1 Mutation; Deleterious NFNS Gene Mutation

Definition

A mutation in the NF1 gene that is associated with an increased risk of disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeleterious NF1 Gene Mutation

Professional guidelines

PubMed

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Recent clinical studies

Etiology

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S, Gupta R, Oberheim Bush NA, Taylor JW, Villanueva-Meyer JE, Young JS, Wu J, Ravindranathan A, Zhang Y, Warrier G, McCoy L, Shai A, Pekmezci M, Perry A, Bollen AW, Phillips JJ, Braunstein SE, Raleigh DR, Theodosopoulos P, Aghi MK, Chang EF, Hervey-Jumper SL, Costello JF, de Groot J, Butowski NA, Clarke JL, Chang SM, Berger MS, Molinaro AM, Solomon DA
Acta Neuropathol 2023 Dec 11;147(1):3. doi: 10.1007/s00401-023-02654-1. PMID: 38079020Free PMC Article
Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.
Yun J, Song H, Kim SM, Kim S, Kwon SR, Lee YE, Jeong D, Park JH, Kwon S, Yun H, Lee DS
Hum Genomics 2023 Feb 23;17(1):13. doi: 10.1186/s40246-023-00458-8. PMID: 36814285Free PMC Article
Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.
Tong S, Devine WP, Shieh JT
JCO Precis Oncol 2022 May;6:e2100540. doi: 10.1200/PO.21.00540. PMID: 35584348Free PMC Article
Somatic Genomics and Clinical Features of Lung Adenocarcinoma: A Retrospective Study.
Shi J, Hua X, Zhu B, Ravichandran S, Wang M, Nguyen C, Brodie SA, Palleschi A, Alloisio M, Pariscenti G, Jones K, Zhou W, Bouk AJ, Boland J, Hicks B, Risch A, Bennett H, Luke BT, Song L, Duan J, Liu P, Kohno T, Chen Q, Meerzaman D, Marconett C, Laird-Offringa I, Mills I, Caporaso NE, Gail MH, Pesatori AC, Consonni D, Bertazzi PA, Chanock SJ, Landi MT
PLoS Med 2016 Dec;13(12):e1002162. Epub 2016 Dec 6 doi: 10.1371/journal.pmed.1002162. PMID: 27923066Free PMC Article
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Diagnosis

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S, Gupta R, Oberheim Bush NA, Taylor JW, Villanueva-Meyer JE, Young JS, Wu J, Ravindranathan A, Zhang Y, Warrier G, McCoy L, Shai A, Pekmezci M, Perry A, Bollen AW, Phillips JJ, Braunstein SE, Raleigh DR, Theodosopoulos P, Aghi MK, Chang EF, Hervey-Jumper SL, Costello JF, de Groot J, Butowski NA, Clarke JL, Chang SM, Berger MS, Molinaro AM, Solomon DA
Acta Neuropathol 2023 Dec 11;147(1):3. doi: 10.1007/s00401-023-02654-1. PMID: 38079020Free PMC Article
Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.
Tong S, Devine WP, Shieh JT
JCO Precis Oncol 2022 May;6:e2100540. doi: 10.1200/PO.21.00540. PMID: 35584348Free PMC Article
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Yu C, Xie B, Zhao Z, Zhao S, Liu L, Cheng X, Li X, Cao B, Shao J, Chen J, Zhao H, Yan Z, Su C, Niu Y, Song Y, Wei L, Wang Y, Ren X, Fan L, Zhang B, Li C, Gui B, Zhang Y, Wang L, Chen S, Zhang J, Wu Z, Gong C, Fan X, Wu N
Front Endocrinol (Lausanne) 2021;12:711991. Epub 2021 Sep 13 doi: 10.3389/fendo.2021.711991. PMID: 34589056Free PMC Article
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
Wardell CP, Fujita M, Yamada T, Simbolo M, Fassan M, Karlic R, Polak P, Kim J, Hatanaka Y, Maejima K, Lawlor RT, Nakanishi Y, Mitsuhashi T, Fujimoto A, Furuta M, Ruzzenente A, Conci S, Oosawa A, Sasaki-Oku A, Nakano K, Tanaka H, Yamamoto Y, Michiaki K, Kawakami Y, Aikata H, Ueno M, Hayami S, Gotoh K, Ariizumi SI, Yamamoto M, Yamaue H, Chayama K, Miyano S, Getz G, Scarpa A, Hirano S, Nakamura T, Nakagawa H
J Hepatol 2018 May;68(5):959-969. Epub 2018 Jan 31 doi: 10.1016/j.jhep.2018.01.009. PMID: 29360550
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Therapy

Molecular profiling of hormone receptor-positive, HER2-negative breast cancers from patients treated with neoadjuvant endocrine therapy in the CARMINA 02 trial (UCBG-0609).
Liang X, Briaux A, Becette V, Benoist C, Boulai A, Chemlali W, Schnitzler A, Baulande S, Rivera S, Mouret-Reynier MA, Bouvet LV, De La Motte Rouge T, Lemonnier J, Lerebours F, Callens C
J Hematol Oncol 2018 Oct 11;11(1):124. doi: 10.1186/s13045-018-0670-9. PMID: 30305115Free PMC Article
Novel enriched pathways in superficial malignant peripheral nerve sheath tumours and spindle/desmoplastic melanomas.
Jour G, Andeen NK, Al-Rohil R, Aung PP, Mehrotra M, Duose D, Hoch B, Argenyi Z, Luthra R, Wistuba II, Prieto VG
J Pathol 2018 Jan;244(1):97-106. doi: 10.1002/path.4996. PMID: 28991373
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.
Shi E, Chmielecki J, Tang CM, Wang K, Heinrich MC, Kang G, Corless CL, Hong D, Fero KE, Murphy JD, Fanta PT, Ali SM, De Siena M, Burgoyne AM, Movva S, Madlensky L, Heestand GM, Trent JC, Kurzrock R, Morosini D, Ross JS, Harismendy O, Sicklick JK
J Transl Med 2016 Dec 14;14(1):339. doi: 10.1186/s12967-016-1075-6. PMID: 27974047Free PMC Article

Prognosis

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches.
Chen J, Li Z, Wu Y, Li X, Chen Z, Chen P, Ding Y, Wu C, Hu L
J Mol Neurosci 2024 Oct 7;74(4):94. doi: 10.1007/s12031-024-02271-x. PMID: 39373898Free PMC Article
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S, Gupta R, Oberheim Bush NA, Taylor JW, Villanueva-Meyer JE, Young JS, Wu J, Ravindranathan A, Zhang Y, Warrier G, McCoy L, Shai A, Pekmezci M, Perry A, Bollen AW, Phillips JJ, Braunstein SE, Raleigh DR, Theodosopoulos P, Aghi MK, Chang EF, Hervey-Jumper SL, Costello JF, de Groot J, Butowski NA, Clarke JL, Chang SM, Berger MS, Molinaro AM, Solomon DA
Acta Neuropathol 2023 Dec 11;147(1):3. doi: 10.1007/s00401-023-02654-1. PMID: 38079020Free PMC Article
Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.
Yun J, Song H, Kim SM, Kim S, Kwon SR, Lee YE, Jeong D, Park JH, Kwon S, Yun H, Lee DS
Hum Genomics 2023 Feb 23;17(1):13. doi: 10.1186/s40246-023-00458-8. PMID: 36814285Free PMC Article
Genomic Underpinnings of Tumor Behavior in In Situ and Early Lung Adenocarcinoma.
Qian J, Zhao S, Zou Y, Rahman SMJ, Senosain MF, Stricker T, Chen H, Powell CA, Borczuk AC, Massion PP
Am J Respir Crit Care Med 2020 Mar 15;201(6):697-706. doi: 10.1164/rccm.201902-0294OC. PMID: 31747302Free PMC Article
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
Wardell CP, Fujita M, Yamada T, Simbolo M, Fassan M, Karlic R, Polak P, Kim J, Hatanaka Y, Maejima K, Lawlor RT, Nakanishi Y, Mitsuhashi T, Fujimoto A, Furuta M, Ruzzenente A, Conci S, Oosawa A, Sasaki-Oku A, Nakano K, Tanaka H, Yamamoto Y, Michiaki K, Kawakami Y, Aikata H, Ueno M, Hayami S, Gotoh K, Ariizumi SI, Yamamoto M, Yamaue H, Chayama K, Miyano S, Getz G, Scarpa A, Hirano S, Nakamura T, Nakagawa H
J Hepatol 2018 May;68(5):959-969. Epub 2018 Jan 31 doi: 10.1016/j.jhep.2018.01.009. PMID: 29360550

Clinical prediction guides

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S, Gupta R, Oberheim Bush NA, Taylor JW, Villanueva-Meyer JE, Young JS, Wu J, Ravindranathan A, Zhang Y, Warrier G, McCoy L, Shai A, Pekmezci M, Perry A, Bollen AW, Phillips JJ, Braunstein SE, Raleigh DR, Theodosopoulos P, Aghi MK, Chang EF, Hervey-Jumper SL, Costello JF, de Groot J, Butowski NA, Clarke JL, Chang SM, Berger MS, Molinaro AM, Solomon DA
Acta Neuropathol 2023 Dec 11;147(1):3. doi: 10.1007/s00401-023-02654-1. PMID: 38079020Free PMC Article
Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.
Yun J, Song H, Kim SM, Kim S, Kwon SR, Lee YE, Jeong D, Park JH, Kwon S, Yun H, Lee DS
Hum Genomics 2023 Feb 23;17(1):13. doi: 10.1186/s40246-023-00458-8. PMID: 36814285Free PMC Article
Recurrent Genomic Alterations in Soft Tissue Perineuriomas.
Carter JM, Wu Y, Blessing MM, Folpe AL, Thorland EC, Spinner RJ, Jentoft ME, Wang C, Baheti S, Niu Z, Mauermann ML, Klein CJ
Am J Surg Pathol 2018 Dec;42(12):1708-1714. doi: 10.1097/PAS.0000000000001169. PMID: 30303818
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
Wardell CP, Fujita M, Yamada T, Simbolo M, Fassan M, Karlic R, Polak P, Kim J, Hatanaka Y, Maejima K, Lawlor RT, Nakanishi Y, Mitsuhashi T, Fujimoto A, Furuta M, Ruzzenente A, Conci S, Oosawa A, Sasaki-Oku A, Nakano K, Tanaka H, Yamamoto Y, Michiaki K, Kawakami Y, Aikata H, Ueno M, Hayami S, Gotoh K, Ariizumi SI, Yamamoto M, Yamaue H, Chayama K, Miyano S, Getz G, Scarpa A, Hirano S, Nakamura T, Nakagawa H
J Hepatol 2018 May;68(5):959-969. Epub 2018 Jan 31 doi: 10.1016/j.jhep.2018.01.009. PMID: 29360550
Somatic Genomics and Clinical Features of Lung Adenocarcinoma: A Retrospective Study.
Shi J, Hua X, Zhu B, Ravichandran S, Wang M, Nguyen C, Brodie SA, Palleschi A, Alloisio M, Pariscenti G, Jones K, Zhou W, Bouk AJ, Boland J, Hicks B, Risch A, Bennett H, Luke BT, Song L, Duan J, Liu P, Kohno T, Chen Q, Meerzaman D, Marconett C, Laird-Offringa I, Mills I, Caporaso NE, Gail MH, Pesatori AC, Consonni D, Bertazzi PA, Chanock SJ, Landi MT
PLoS Med 2016 Dec;13(12):e1002162. Epub 2016 Dec 6 doi: 10.1371/journal.pmed.1002162. PMID: 27923066Free PMC Article

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