Literature DB >> 31637524

Arteriovenous malformation associated with a HRAS mutation.

Dennis J Konczyk1, Jeremy A Goss1, Patrick J Smits1, August Y Huang2, Alyaa Al-Ibraheemi3, Christopher L Sudduth1, Matthew L Warman2,4, Arin K Greene5.   

Abstract

The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and found a HRAS mutation (p.Thr58_Ala59delinsValLeuAspVal). Mutant allelic frequency was 5% in whole tissue and 31% in isolated endothelial cells (ECs); the mutation was not present in blood DNA or non-ECs. Somatic mutations in HRAS can cause AVM.

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Year:  2019        PMID： 31637524      PMCID： PMC6874881          DOI： 10.1007/s00439-019-02072-y

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

1.  Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.

Authors:  Javier A Couto; August Y Huang; Dennis J Konczyk; Jeremy A Goss; Steven J Fishman; John B Mulliken; Matthew L Warman; Arin K Greene
Journal:  Am J Hum Genet       Date:  2017-02-09       Impact factor: 11.025

Review 2.  Vascular Anomalies: From a Clinicohistologic to a Genetic Framework.

Authors:  Arin K Greene; Jeremy A Goss
Journal:  Plast Reconstr Surg       Date:  2018-05       Impact factor: 4.730

3.  MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.

Authors:  August Yue Huang; Zheng Zhang; Adam Yongxin Ye; Yanmei Dou; Linlin Yan; Xiaoxu Yang; Yuehua Zhang; Liping Wei
Journal:  Nucleic Acids Res       Date:  2017-06-02       Impact factor: 16.971

Review 4.  RAS isoforms and mutations in cancer at a glance.

Authors:  G Aaron Hobbs; Channing J Der; Kent L Rossman
Journal:  J Cell Sci       Date:  2016-03-16       Impact factor: 5.285

5.  Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Authors:  Lara Al-Olabi; Satyamaanasa Polubothu; Katherine Dowsett; Katrina A Andrews; Paulina Stadnik; Agnel P Joseph; Rachel Knox; Alan Pittman; Graeme Clark; William Baird; Neil Bulstrode; Mary Glover; Kristiana Gordon; Darren Hargrave; Susan M Huson; Thomas S Jacques; Gregory James; Hannah Kondolf; Loshan Kangesu; Kim M Keppler-Noreuil; Amjad Khan; Marjorie J Lindhurst; Mark Lipson; Sahar Mansour; Justine O'Hara; Caroline Mahon; Anda Mosica; Celia Moss; Aditi Murthy; Juling Ong; Victoria E Parker; Jean-Baptiste Rivière; Julie C Sapp; Neil J Sebire; Rahul Shah; Branavan Sivakumar; Anna Thomas; Alex Virasami; Regula Waelchli; Zhiqiang Zeng; Leslie G Biesecker; Alex Barnacle; Maya Topf; Robert K Semple; E Elizabeth Patton; Veronica A Kinsler
Journal:  J Clin Invest       Date:  2018-03-12       Impact factor: 14.808

6.  Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples.

Authors:  Kristian Cibulskis; Michael S Lawrence; Scott L Carter; Andrey Sivachenko; David Jaffe; Carrie Sougnez; Stacey Gabriel; Matthew Meyerson; Eric S Lander; Gad Getz
Journal:  Nat Biotechnol       Date:  2013-02-10       Impact factor: 54.908

7.  COSMIC: the Catalogue Of Somatic Mutations In Cancer.

Authors:  John G Tate; Sally Bamford; Harry C Jubb; Zbyslaw Sondka; David M Beare; Nidhi Bindal; Harry Boutselakis; Charlotte G Cole; Celestino Creatore; Elisabeth Dawson; Peter Fish; Bhavana Harsha; Charlie Hathaway; Steve C Jupe; Chai Yin Kok; Kate Noble; Laura Ponting; Christopher C Ramshaw; Claire E Rye; Helen E Speedy; Ray Stefancsik; Sam L Thompson; Shicai Wang; Sari Ward; Peter J Campbell; Simon A Forbes
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971
  7 in total
  6 in total

1.  Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice.

Authors:  Patrick J Smits; Christopher L Sudduth; Dennis J Konczyk; Yu Sheng Cheng; Matthew P Vivero; Harry P W Kozakewich; Matthew L Warman; Arin K Greene
Journal:  Angiogenesis       Date:  2022-08-16       Impact factor: 10.658

Review 2.  Molecular and genetic mechanisms in brain arteriovenous malformations: new insights and future perspectives.

Authors:  Sandra Vetiska; Thomas Wälchli; Ivan Radovanovic; Moncef Berhouma
Journal:  Neurosurg Rev       Date:  2022-10-11       Impact factor: 2.800

3.  Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.

Authors:  Christopher L Sudduth; Anna M McGuire; Patrick J Smits; Dennis J Konczyk; Alyaa Al-Ibraheemi; Steven J Fishman; Arin K Greene
Journal:  Clin Genet       Date:  2020-09-02       Impact factor: 4.438

4.  Vascular Malformations: Current Progress Toward Drug Therapy.

Authors:  Arin K Greene; Christopher L Sudduth
Journal:  J Craniofac Surg       Date:  2021-05-01       Impact factor: 1.046

5.  Somatic Gain of KRAS Function in the Endothelium Is Sufficient to Cause Vascular Malformations That Require MEK but Not PI3K Signaling.

Authors:  Jason E Fish; Carlos Perfecto Flores Suarez; Emilie Boudreau; Alexander M Herman; Manuel Cantu Gutierrez; Dakota Gustafson; Peter V DiStefano; Meng Cui; Zhiqi Chen; Karen Berman De Ruiz; Taylor S Schexnayder; Christopher S Ward; Ivan Radovanovic; Joshua D Wythe
Journal:  Circ Res       Date:  2020-06-17       Impact factor: 17.367

6.  Children with Arteriovenous Malformations of the Central Nervous System: A Retrospective Study of 12 Pediatric Cases from a Single Tertiary Center in Slovenia.

Authors:  Ula Arkar; Tina Vipotnik Vesnaver; Anja Troha Gergeli; Neli Bizjak; Damjan Osredkar
Journal:  Med Sci Monit       Date:  2022-03-06
  6 in total

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