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VEGFR Family Gene Mutation

MedGen UID:
1624240
•Concept ID:
C4526665
•
Cell or Molecular Dysfunction
Synonyms: Mutant VEGFR; Mutant VEGFR Family Gene; Vascular Endothelial Growth Factor Receptor Family Gene Mutation; VEGFR Family Mutation; VEGFR Mutation

Definition

A change in the nucleotide sequence in a VEGFR family gene. [from NCI]

Professional guidelines

PubMed

Treatment of advanced renal cell carcinoma patients with cabozantinib, an oral multityrosine kinase inhibitor of MET, AXL and VEGF receptors.
Desai A, Small EJ
Future Oncol 2019 Jul;15(20):2337-2348. Epub 2019 Jun 11 doi: 10.2217/fon-2019-0021. PMID: 31184937
Genetic Screening in a Large Cohort of Italian Patients Affected by Primary Lymphedema Using a Next Generation Sequencing (NGS) Approach.
Michelini S, Vettori A, Maltese PE, Cardone M, Bruson A, Fiorentino A, Cappellino F, Sainato V, Guerri G, Marceddu G, Tezzele S, Bertelli M
Lymphology 2016 Jun;49(2):57-72. PMID: 29906362
Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.
Pattathu J, Gorenflo M, Hilgendorff A, Koskenvuo JW, Apitz C, Hansmann G, Alastalo TP
Heart 2016 May;102 Suppl 2:ii36-41. doi: 10.1136/heartjnl-2014-307238. PMID: 27053696

Recent clinical studies

Etiology

Sex-biased TGFβ signalling in pulmonary arterial hypertension.
Wits M, Becher C, de Man F, Sanchez-Duffhues G, Goumans MJ
Cardiovasc Res 2023 Oct 24;119(13):2262-2277. doi: 10.1093/cvr/cvad129. PMID: 37595264Free PMC Article
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD
Circ Res 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250. PMID: 30582441Free PMC Article
Orai1 and transient receptor potential channels as novel molecular targets to impair tumor neovascularization in renal cell carcinoma and other malignancies.
Moccia F, Dragoni S, Poletto V, Rosti V, Tanzi F, Ganini C, Porta C
Anticancer Agents Med Chem 2014 Feb;14(2):296-312. doi: 10.2174/18715206113139990315. PMID: 23869775
Vascular anomalies of the head and neck: a review of genetics.
Yadav P, De Castro DK, Waner M, Meyer L, Fay A
Semin Ophthalmol 2013 Sep-Nov;28(5-6):257-66. Epub 2013 Sep 6 doi: 10.3109/08820538.2013.825279. PMID: 24010650
Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer.
Danza K, Pilato B, Lacalamita R, Addati T, Giotta F, Bruno A, Paradiso A, Tommasi S
Eur J Hum Genet 2013 Aug;21(8):824-30. Epub 2012 Dec 12 doi: 10.1038/ejhg.2012.273. PMID: 23232696Free PMC Article

Diagnosis

Colorectal Cancer Biology, Diagnosis, and Therapeutic Approaches.
Dariya B, Aliya S, Merchant N, Alam A, Nagaraju GP
Crit Rev Oncog 2020;25(2):71-94. doi: 10.1615/CritRevOncog.2020035067. PMID: 33389859
Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.
Ruiz-Llorente L, Gallardo-Vara E, Rossi E, Smadja DM, Botella LM, Bernabeu C
Expert Opin Ther Targets 2017 Oct;21(10):933-947. Epub 2017 Aug 20 doi: 10.1080/14728222.2017.1365839. PMID: 28796572
Prokineticins in central and peripheral control of human reproduction.
Traboulsi W, Brouillet S, Sergent F, Boufettal H, Samouh N, Aboussaouira T, Hoffmann P, Feige JJ, Benharouga M, Alfaidy N
Horm Mol Biol Clin Investig 2015 Nov;24(2):73-81. doi: 10.1515/hmbci-2015-0040. PMID: 26574895
Personalizing therapy for colorectal cancer.
Wong A, Ma BB
Clin Gastroenterol Hepatol 2014 Jan;12(1):139-44. Epub 2013 Sep 8 doi: 10.1016/j.cgh.2013.08.040. PMID: 24025538
Radioresistance in carcinoma of the breast.
Jameel JK, Rao VS, Cawkwell L, Drew PJ
Breast 2004 Dec;13(6):452-60. doi: 10.1016/j.breast.2004.08.004. PMID: 15563851

Therapy

Targeting Small Molecule Tyrosine Kinases by Polyphenols: New Move Towards Anti-tumor Drug Discovery.
Sakle NS, More SA, Dhawale SA, Mokale SN
Curr Drug Discov Technol 2020;17(5):585-615. doi: 10.2174/1570163816666190808120843. PMID: 31393251
Treatment of advanced renal cell carcinoma patients with cabozantinib, an oral multityrosine kinase inhibitor of MET, AXL and VEGF receptors.
Desai A, Small EJ
Future Oncol 2019 Jul;15(20):2337-2348. Epub 2019 Jun 11 doi: 10.2217/fon-2019-0021. PMID: 31184937
Molecular aberrations, targeted therapy, and renal cell carcinoma: current state-of-the-art.
Randall JM, Millard F, Kurzrock R
Cancer Metastasis Rev 2014 Dec;33(4):1109-24. doi: 10.1007/s10555-014-9533-1. PMID: 25365943
Vandetanib therapy in medullary thyroid cancer.
Grabowski P, Briest F, Baum RP, Zaknun JJ, Kulkarni HR, Zeitz M, Hörsch D
Drugs Today (Barc) 2012 Nov;48(11):723-33. doi: 10.1358/dot.2012.48.11.1867323. PMID: 23170308
von Hippel-Lindau syndrome: target for anti-vascular endothelial growth factor (VEGF) receptor therapy.
Harris AL
Oncologist 2000;5 Suppl 1:32-6. doi: 10.1634/theoncologist.5-suppl_1-32. PMID: 10804089

Prognosis

DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology.
D'Apolito M, Santacroce R, Vazquez DO, Cordisco G, Fantini CA, D'Andrea G, Leccese A, Colia AL, Martinez P, Zanichelli A, Josviack D, Margaglione M
J Allergy Clin Immunol 2024 Sep;154(3):698-706. Epub 2024 May 31 doi: 10.1016/j.jaci.2024.05.017. PMID: 38823490
Colorectal Cancer Biology, Diagnosis, and Therapeutic Approaches.
Dariya B, Aliya S, Merchant N, Alam A, Nagaraju GP
Crit Rev Oncog 2020;25(2):71-94. doi: 10.1615/CritRevOncog.2020035067. PMID: 33389859
Molecular aberrations, targeted therapy, and renal cell carcinoma: current state-of-the-art.
Randall JM, Millard F, Kurzrock R
Cancer Metastasis Rev 2014 Dec;33(4):1109-24. doi: 10.1007/s10555-014-9533-1. PMID: 25365943
Personalizing therapy for colorectal cancer.
Wong A, Ma BB
Clin Gastroenterol Hepatol 2014 Jan;12(1):139-44. Epub 2013 Sep 8 doi: 10.1016/j.cgh.2013.08.040. PMID: 24025538
Growth factors and receptors as prognostic markers in urothelial carcinoma.
Black PC, Dinney CP
Curr Urol Rep 2008 Jan;9(1):55-61. doi: 10.1007/s11934-008-0011-6. PMID: 18366975

Clinical prediction guides

Colorectal Cancer Biology, Diagnosis, and Therapeutic Approaches.
Dariya B, Aliya S, Merchant N, Alam A, Nagaraju GP
Crit Rev Oncog 2020;25(2):71-94. doi: 10.1615/CritRevOncog.2020035067. PMID: 33389859
Targeting Small Molecule Tyrosine Kinases by Polyphenols: New Move Towards Anti-tumor Drug Discovery.
Sakle NS, More SA, Dhawale SA, Mokale SN
Curr Drug Discov Technol 2020;17(5):585-615. doi: 10.2174/1570163816666190808120843. PMID: 31393251
Molecular aberrations, targeted therapy, and renal cell carcinoma: current state-of-the-art.
Randall JM, Millard F, Kurzrock R
Cancer Metastasis Rev 2014 Dec;33(4):1109-24. doi: 10.1007/s10555-014-9533-1. PMID: 25365943
Personalizing therapy for colorectal cancer.
Wong A, Ma BB
Clin Gastroenterol Hepatol 2014 Jan;12(1):139-44. Epub 2013 Sep 8 doi: 10.1016/j.cgh.2013.08.040. PMID: 24025538
Research perspectives in inherited lymphatic disease.
Ferrell RE
Ann N Y Acad Sci 2002 Dec;979:39-51; discussion 76-9. doi: 10.1111/j.1749-6632.2002.tb04866.x. PMID: 12543715

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