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RAS Family Gene Mutation

MedGen UID:
1392057
•Concept ID:
C4331205
•
Cell or Molecular Dysfunction
Synonyms: Mutant RAS; Mutant RAS Family Gene; RAS Family Mutation; RAS Mutation

Definition

A change in the nucleotide sequence in a RAS family gene (HRAS, KRAS or NRAS). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRAS Family Gene Mutation

Professional guidelines

PubMed

Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA
Am J Med Genet A 2019 Sep;179(9):1725-1744. Epub 2019 Jun 20 doi: 10.1002/ajmg.a.61270. PMID: 31222966Free PMC Article
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A; Australian Ovarian Cancer Study Group, Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H; Breast Cancer Family Register, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KBM, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Silva IDS, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD; EMBRACE, Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA; GEMO Study Collaborators; GENICA Network, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Gschwantler Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TVO, Harter P, Hartikainen JM, Healey S; HEBON, Hein A, Heitz F, Henderson BE, Herzog J, T Hildebrandt MA, Høgdall CK, Høgdall E, Hogervorst FBL, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N; KConFab Investigators, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, Mai PL, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JWM, Massuger LFAG, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MWR, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L; SWE-BRCA, Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, van Altena AM, Van Asperen CJ, van den Berg D, van den Ouweland AMW, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Pilar Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PDP, Rookus MA, Hooning MJ, Goode EL
Gynecol Oncol 2016 May;141(2):386-401. Epub 2015 May 2 doi: 10.1016/j.ygyno.2015.04.034. PMID: 25940428Free PMC Article
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA
Pediatrics 2014 Oct;134(4):e1149-62. Epub 2014 Sep 1 doi: 10.1542/peds.2013-3189. PMID: 25180280Free PMC Article

Recent clinical studies

Etiology

Philadelphia chromosome-like acute lymphoblastic leukemia.
Tasian SK, Loh ML, Hunger SP
Blood 2017 Nov 9;130(19):2064-2072. Epub 2017 Oct 2 doi: 10.1182/blood-2017-06-743252. PMID: 28972016Free PMC Article
Prevalence and architecture of de novo mutations in developmental disorders.
Deciphering Developmental Disorders Study
Nature 2017 Feb 23;542(7642):433-438. Epub 2017 Jan 25 doi: 10.1038/nature21062. PMID: 28135719Free PMC Article
Pancreatic cancer.
Kamisawa T, Wood LD, Itoi T, Takaori K
Lancet 2016 Jul 2;388(10039):73-85. Epub 2016 Jan 30 doi: 10.1016/S0140-6736(16)00141-0. PMID: 26830752
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR
J Med Genet 2015 Jun;52(6):413-21. Epub 2015 Mar 20 doi: 10.1136/jmedgenet-2015-103018. PMID: 25795793
The RASopathies.
Rauen KA
Annu Rev Genomics Hum Genet 2013;14:355-69. Epub 2013 Jul 15 doi: 10.1146/annurev-genom-091212-153523. PMID: 23875798Free PMC Article

Diagnosis

Combination Therapies with CDK4/6 Inhibitors to Treat KRAS-Mutant Pancreatic Cancer.
Goodwin CM, Waters AM, Klomp JE, Javaid S, Bryant KL, Stalnecker CA, Drizyte-Miller K, Papke B, Yang R, Amparo AM, Ozkan-Dagliyan I, Baldelli E, Calvert V, Pierobon M, Sorrentino JA, Beelen AP, Bublitz N, Lüthen M, Wood KC, Petricoin EF, Sers C, McRee AJ, Cox AD, Der CJ
Cancer Res 2023 Jan 4;83(1):141-157. doi: 10.1158/0008-5472.CAN-22-0391. PMID: 36346366Free PMC Article
Scaling the tips of the ALPS.
Rieux-Laucat F, Kanellopoulos JM, Ojcius DM
Biomed J 2021 Aug;44(4):383-387. Epub 2021 Aug 23 doi: 10.1016/j.bj.2021.08.002. PMID: 34438083Free PMC Article
Prevalence and architecture of de novo mutations in developmental disorders.
Deciphering Developmental Disorders Study
Nature 2017 Feb 23;542(7642):433-438. Epub 2017 Jan 25 doi: 10.1038/nature21062. PMID: 28135719Free PMC Article
Pancreatic cancer.
Kamisawa T, Wood LD, Itoi T, Takaori K
Lancet 2016 Jul 2;388(10039):73-85. Epub 2016 Jan 30 doi: 10.1016/S0140-6736(16)00141-0. PMID: 26830752
Noonan syndrome.
Turner AM
J Paediatr Child Health 2014 Oct;50(10):E14-20. Epub 2011 Jul 19 doi: 10.1111/j.1440-1754.2010.01970.x. PMID: 21771153

Therapy

Targeting KRAS in cancer.
Singhal A, Li BT, O'Reilly EM
Nat Med 2024 Apr;30(4):969-983. Epub 2024 Apr 18 doi: 10.1038/s41591-024-02903-0. PMID: 38637634
Acute myeloid leukemia resistant to venetoclax-based therapy: What does the future hold?
Dhakal P, Bates M, Tomasson MH, Sutamtewagul G, Dupuy A, Bhatt VR
Blood Rev 2023 May;59:101036. Epub 2022 Dec 1 doi: 10.1016/j.blre.2022.101036. PMID: 36549969
Combination Therapies with CDK4/6 Inhibitors to Treat KRAS-Mutant Pancreatic Cancer.
Goodwin CM, Waters AM, Klomp JE, Javaid S, Bryant KL, Stalnecker CA, Drizyte-Miller K, Papke B, Yang R, Amparo AM, Ozkan-Dagliyan I, Baldelli E, Calvert V, Pierobon M, Sorrentino JA, Beelen AP, Bublitz N, Lüthen M, Wood KC, Petricoin EF, Sers C, McRee AJ, Cox AD, Der CJ
Cancer Res 2023 Jan 4;83(1):141-157. doi: 10.1158/0008-5472.CAN-22-0391. PMID: 36346366Free PMC Article
KRAS: The Critical Driver and Therapeutic Target for Pancreatic Cancer.
Waters AM, Der CJ
Cold Spring Harb Perspect Med 2018 Sep 4;8(9) doi: 10.1101/cshperspect.a031435. PMID: 29229669Free PMC Article
Pancreatic cancer.
Kamisawa T, Wood LD, Itoi T, Takaori K
Lancet 2016 Jul 2;388(10039):73-85. Epub 2016 Jan 30 doi: 10.1016/S0140-6736(16)00141-0. PMID: 26830752

Prognosis

Targeting KRAS in cancer.
Singhal A, Li BT, O'Reilly EM
Nat Med 2024 Apr;30(4):969-983. Epub 2024 Apr 18 doi: 10.1038/s41591-024-02903-0. PMID: 38637634
Small molecular inhibitors for KRAS-mutant cancers.
Wu X, Song W, Cheng C, Liu Z, Li X, Cui Y, Gao Y, Li D
Front Immunol 2023;14:1223433. Epub 2023 Aug 18 doi: 10.3389/fimmu.2023.1223433. PMID: 37662925Free PMC Article
Acute myeloid leukemia resistant to venetoclax-based therapy: What does the future hold?
Dhakal P, Bates M, Tomasson MH, Sutamtewagul G, Dupuy A, Bhatt VR
Blood Rev 2023 May;59:101036. Epub 2022 Dec 1 doi: 10.1016/j.blre.2022.101036. PMID: 36549969
Acetyl-CoA Metabolism Supports Multistep Pancreatic Tumorigenesis.
Carrer A, Trefely S, Zhao S, Campbell SL, Norgard RJ, Schultz KC, Sidoli S, Parris JLD, Affronti HC, Sivanand S, Egolf S, Sela Y, Trizzino M, Gardini A, Garcia BA, Snyder NW, Stanger BZ, Wellen KE
Cancer Discov 2019 Mar;9(3):416-435. Epub 2019 Jan 9 doi: 10.1158/2159-8290.CD-18-0567. PMID: 30626590Free PMC Article
Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers.
Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA
J Clin Invest 2016 Mar 1;126(3):1052-66. Epub 2016 Feb 15 doi: 10.1172/JCI85271. PMID: 26878173Free PMC Article

Clinical prediction guides

Acute myeloid leukemia resistant to venetoclax-based therapy: What does the future hold?
Dhakal P, Bates M, Tomasson MH, Sutamtewagul G, Dupuy A, Bhatt VR
Blood Rev 2023 May;59:101036. Epub 2022 Dec 1 doi: 10.1016/j.blre.2022.101036. PMID: 36549969
Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.
Gurnari C, Pagliuca S, Prata PH, Galimard JE, Catto LFB, Larcher L, Sebert M, Allain V, Patel BJ, Durmaz A, Pinto AL, Inacio MCB, Hernandez L, Dhedin N, Caillat-Zucman S, Clappier E, Sicre de Fontbrune F, Voso MT, Visconte V, Peffault de Latour R, Soulier J, Calado RT, Socié G, Maciejewski JP
J Clin Oncol 2023 Jan 1;41(1):132-142. Epub 2022 Sep 2 doi: 10.1200/JCO.22.00710. PMID: 36054881Free PMC Article
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
KRAS, NRAS, BRAF, HER2 and microsatellite instability in metastatic colorectal cancer - practical implications for the clinician.
Afrăsânie VA, Marinca MV, Alexa-Stratulat T, Gafton B, Păduraru M, Adavidoaiei AM, Miron L, Rusu C
Radiol Oncol 2019 Sep 24;53(3):265-274. doi: 10.2478/raon-2019-0033. PMID: 31553708Free PMC Article
Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers.
Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA
J Clin Invest 2016 Mar 1;126(3):1052-66. Epub 2016 Feb 15 doi: 10.1172/JCI85271. PMID: 26878173Free PMC Article

Recent systematic reviews

The genetics of Henoch-Schönlein purpura: a systematic review and meta-analysis.
He X, Yu C, Zhao P, Ding Y, Liang X, Zhao Y, Yue X, Wu Y, Yin W
Rheumatol Int 2013 Jun;33(6):1387-95. Epub 2013 Jan 17 doi: 10.1007/s00296-012-2661-4. PMID: 23325094

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