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Pathologic Mutagenesis

MedGen UID:
309558
Concept ID:
C1518911
Cell or Molecular Dysfunction
Synonyms: Mutagenic Process; Mutagenic Process, Pathologic

Definition

Any event, process, or activity that produces a deleterious alteration of DNA. (NCI) [from NCI]

Professional guidelines

PubMed

Kurppa KJ, Liu Y, To C, Zhang T, Fan M, Vajdi A, Knelson EH, Xie Y, Lim K, Cejas P, Portell A, Lizotte PH, Ficarro SB, Li S, Chen T, Haikala HM, Wang H, Bahcall M, Gao Y, Shalhout S, Boettcher S, Shin BH, Thai T, Wilkens MK, Tillgren ML, Mushajiang M, Xu M, Choi J, Bertram AA, Ebert BL, Beroukhim R, Bandopadhayay P, Awad MM, Gokhale PC, Kirschmeier PT, Marto JA, Camargo FD, Haq R, Paweletz CP, Wong KK, Barbie DA, Long HW, Gray NS, Jänne PA
Cancer Cell 2020 Jan 13;37(1):104-122.e12. doi: 10.1016/j.ccell.2019.12.006. PMID: 31935369Free PMC Article
Hallek M
Am J Hematol 2019 Nov;94(11):1266-1287. Epub 2019 Oct 4 doi: 10.1002/ajh.25595. PMID: 31364186
Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article

Recent clinical studies

Etiology

Sabatino DE, Bushman FD, Chandler RJ, Crystal RG, Davidson BL, Dolmetsch R, Eggan KC, Gao G, Gil-Farina I, Kay MA, McCarty DM, Montini E, Ndu A, Yuan J; American Society of Gene and Cell Therapy (ASGCT) Working Group on AAV Integration
Mol Ther 2022 Aug 3;30(8):2646-2663. Epub 2022 Jun 10 doi: 10.1016/j.ymthe.2022.06.004. PMID: 35690906Free PMC Article
Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Bøen R, Cahn W, Calhoun VD, Caspers S, Ching CRK, Cichon S, Ciufolini S, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Desrivieres S, Doherty JL, Donohoe G, Draganski B, Ehrlich S, Eising E, Espeseth T, Fejgin K, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Ge T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hall J, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Holmes AJ, Homuth G, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Jørgensen NR, Kikuchi M, Knowles EEM, Kumar K, Le Hellard S, Leu C, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Maillard AM, Martin NG, Martin-Brevet S, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Meyer-Lindenberg A, Moberget T, Modenato C, Sánchez JM, Morris DW, Mühleisen TW, Murray RM, Nielsen J, Nordvik JE, Nyberg L, Loohuis LMO, Ophoff RA, Owen MJ, Paus T, Pausova Z, Peralta JM, Pike GB, Prieto C, Quinlan EB, Reinbold CS, Marques TR, Rucker JJH, Sachdev PS, Sando SB, Schofield PR, Schork AJ, Schumann G, Shin J, Shumskaya E, Silva AI, Sisodiya SM, Steen VM, Stein DJ, Strike LT, Suzuki IK, Tamnes CK, Teumer A, Thalamuthu A, Tordesillas-Gutiérrez D, Uhlmann A, Ulfarsson MO, van 't Ent D, van den Bree MBM, Vanderhaeghen P, Vassos E, Wen W, Wittfeld K, Wright MJ, Agartz I, Djurovic S, Westlye LT, Stefansson H, Stefansson K, Jacquemont S, Thompson PM, Andreassen OA; ENIGMA-CNV working group
Transl Psychiatry 2021 Mar 22;11(1):182. doi: 10.1038/s41398-021-01213-0. PMID: 33753722Free PMC Article
Gerstung M, Jolly C, Leshchiner I, Dentro SC, Gonzalez S, Rosebrock D, Mitchell TJ, Rubanova Y, Anur P, Yu K, Tarabichi M, Deshwar A, Wintersinger J, Kleinheinz K, Vázquez-García I, Haase K, Jerman L, Sengupta S, Macintyre G, Malikic S, Donmez N, Livitz DG, Cmero M, Demeulemeester J, Schumacher S, Fan Y, Yao X, Lee J, Schlesner M, Boutros PC, Bowtell DD, Zhu H, Getz G, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Markowetz F, Mustonen V, Yuan K, Wang W, Morris QD; PCAWG Evolution & Heterogeneity Working Group, Spellman PT, Wedge DC, Van Loo P; PCAWG Consortium
Nature 2020 Feb;578(7793):122-128. Epub 2020 Feb 6 doi: 10.1038/s41586-019-1907-7. PMID: 32025013Free PMC Article
Li B, Brady SW, Ma X, Shen S, Zhang Y, Li Y, Szlachta K, Dong L, Liu Y, Yang F, Wang N, Flasch DA, Myers MA, Mulder HL, Ding L, Liu Y, Tian L, Hagiwara K, Xu K, Zhou X, Sioson E, Wang T, Yang L, Zhao J, Zhang H, Shao Y, Sun H, Sun L, Cai J, Sun HY, Lin TN, Du L, Li H, Rusch M, Edmonson MN, Easton J, Zhu X, Zhang J, Cheng C, Raphael BJ, Tang J, Downing JR, Alexandrov LB, Zhou BS, Pui CH, Yang JJ, Zhang J
Blood 2020 Jan 2;135(1):41-55. doi: 10.1182/blood.2019002220. PMID: 31697823Free PMC Article
Wilch ES, Morton CC
Adv Exp Med Biol 2018;1044:1-14. doi: 10.1007/978-981-13-0593-1_1. PMID: 29956287

Diagnosis

Shi R, Wang X, Wu Y, Xu B, Zhao T, Trapp C, Wang X, Unger K, Zhou C, Lu S, Buchner A, Schulz GB, Cao F, Belka C, Su C, Li M, Shu Y
Theranostics 2022;12(9):4181-4199. Epub 2022 May 16 doi: 10.7150/thno.73235. PMID: 35673559Free PMC Article
Walker BA, Mavrommatis K, Wardell CP, Ashby TC, Bauer M, Davies FE, Rosenthal A, Wang H, Qu P, Hoering A, Samur M, Towfic F, Ortiz M, Flynt E, Yu Z, Yang Z, Rozelle D, Obenauer J, Trotter M, Auclair D, Keats J, Bolli N, Fulciniti M, Szalat R, Moreau P, Durie B, Stewart AK, Goldschmidt H, Raab MS, Einsele H, Sonneveld P, San Miguel J, Lonial S, Jackson GH, Anderson KC, Avet-Loiseau H, Munshi N, Thakurta A, Morgan GJ
Blood 2018 Aug 9;132(6):587-597. Epub 2018 Jun 8 doi: 10.1182/blood-2018-03-840132. PMID: 29884741Free PMC Article
You MJ, Medeiros LJ, Hsi ED
Am J Clin Pathol 2015 Sep;144(3):411-22. doi: 10.1309/AJCPMF03LVSBLHPJ. PMID: 26276771
Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Børresen-Dale AL, Boyault S, Burkhardt B, Butler AP, Caldas C, Davies HR, Desmedt C, Eils R, Eyfjörd JE, Foekens JA, Greaves M, Hosoda F, Hutter B, Ilicic T, Imbeaud S, Imielinski M, Jäger N, Jones DT, Jones D, Knappskog S, Kool M, Lakhani SR, López-Otín C, Martin S, Munshi NC, Nakamura H, Northcott PA, Pajic M, Papaemmanuil E, Paradiso A, Pearson JV, Puente XS, Raine K, Ramakrishna M, Richardson AL, Richter J, Rosenstiel P, Schlesner M, Schumacher TN, Span PN, Teague JW, Totoki Y, Tutt AN, Valdés-Mas R, van Buuren MM, van 't Veer L, Vincent-Salomon A, Waddell N, Yates LR; Australian Pancreatic Cancer Genome Initiative; ICGC Breast Cancer Consortium; ICGC MMML-Seq Consortium; ICGC PedBrain, Zucman-Rossi J, Futreal PA, McDermott U, Lichter P, Meyerson M, Grimmond SM, Siebert R, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR
Nature 2013 Aug 22;500(7463):415-21. Epub 2013 Aug 14 doi: 10.1038/nature12477. PMID: 23945592Free PMC Article
Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, Nik-Zainal S, Martin S, Varela I, Bignell GR, Yates LR, Papaemmanuil E, Beare D, Butler A, Cheverton A, Gamble J, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, Lau KW, McLaren S, McBride DJ, Menzies A, Mudie L, Raine K, Rad R, Chapman MS, Teague J, Easton D, Langerød A; Oslo Breast Cancer Consortium (OSBREAC), Lee MT, Shen CY, Tee BT, Huimin BW, Broeks A, Vargas AC, Turashvili G, Martens J, Fatima A, Miron P, Chin SF, Thomas G, Boyault S, Mariani O, Lakhani SR, van de Vijver M, van 't Veer L, Foekens J, Desmedt C, Sotiriou C, Tutt A, Caldas C, Reis-Filho JS, Aparicio SA, Salomon AV, Børresen-Dale AL, Richardson AL, Campbell PJ, Futreal PA, Stratton MR
Nature 2012 May 16;486(7403):400-4. doi: 10.1038/nature11017. PMID: 22722201Free PMC Article

Therapy

Zhou J, Ji Q, Li Q
J Exp Clin Cancer Res 2021 Oct 18;40(1):328. doi: 10.1186/s13046-021-02130-2. PMID: 34663410Free PMC Article
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
Riggi N, Suvà ML, Stamenkovic I
N Engl J Med 2021 Jan 14;384(2):154-164. doi: 10.1056/NEJMra2028910. PMID: 33497548
Buza N
Arch Pathol Lab Med 2021 Jun 1;145(6):687-691. doi: 10.5858/arpa.2020-0207-RA. PMID: 32649220
Li B, Brady SW, Ma X, Shen S, Zhang Y, Li Y, Szlachta K, Dong L, Liu Y, Yang F, Wang N, Flasch DA, Myers MA, Mulder HL, Ding L, Liu Y, Tian L, Hagiwara K, Xu K, Zhou X, Sioson E, Wang T, Yang L, Zhao J, Zhang H, Shao Y, Sun H, Sun L, Cai J, Sun HY, Lin TN, Du L, Li H, Rusch M, Edmonson MN, Easton J, Zhu X, Zhang J, Cheng C, Raphael BJ, Tang J, Downing JR, Alexandrov LB, Zhou BS, Pui CH, Yang JJ, Zhang J
Blood 2020 Jan 2;135(1):41-55. doi: 10.1182/blood.2019002220. PMID: 31697823Free PMC Article

Prognosis

Petljak M, Green AM, Maciejowski J, Weitzman MD
Nat Genet 2022 Nov;54(11):1599-1608. Epub 2022 Oct 24 doi: 10.1038/s41588-022-01196-8. PMID: 36280735Free PMC Article
Li B, Brady SW, Ma X, Shen S, Zhang Y, Li Y, Szlachta K, Dong L, Liu Y, Yang F, Wang N, Flasch DA, Myers MA, Mulder HL, Ding L, Liu Y, Tian L, Hagiwara K, Xu K, Zhou X, Sioson E, Wang T, Yang L, Zhao J, Zhang H, Shao Y, Sun H, Sun L, Cai J, Sun HY, Lin TN, Du L, Li H, Rusch M, Edmonson MN, Easton J, Zhu X, Zhang J, Cheng C, Raphael BJ, Tang J, Downing JR, Alexandrov LB, Zhou BS, Pui CH, Yang JJ, Zhang J
Blood 2020 Jan 2;135(1):41-55. doi: 10.1182/blood.2019002220. PMID: 31697823Free PMC Article
Li S, Young KH, Medeiros LJ
Pathology 2018 Jan;50(1):74-87. Epub 2017 Nov 20 doi: 10.1016/j.pathol.2017.09.006. PMID: 29167021
You MJ, Medeiros LJ, Hsi ED
Am J Clin Pathol 2015 Sep;144(3):411-22. doi: 10.1309/AJCPMF03LVSBLHPJ. PMID: 26276771
Torry DS, Cooper GM
Am J Reprod Immunol 1991 Apr;25(3):129-32. doi: 10.1111/j.1600-0897.1991.tb01080.x. PMID: 1930640

Clinical prediction guides

Shi R, Wang X, Wu Y, Xu B, Zhao T, Trapp C, Wang X, Unger K, Zhou C, Lu S, Buchner A, Schulz GB, Cao F, Belka C, Su C, Li M, Shu Y
Theranostics 2022;12(9):4181-4199. Epub 2022 May 16 doi: 10.7150/thno.73235. PMID: 35673559Free PMC Article
Bergstrom EN, Luebeck J, Petljak M, Khandekar A, Barnes M, Zhang T, Steele CD, Pillay N, Landi MT, Bafna V, Mischel PS, Harris RS, Alexandrov LB
Nature 2022 Feb;602(7897):510-517. Epub 2022 Feb 9 doi: 10.1038/s41586-022-04398-6. PMID: 35140399Free PMC Article
Shern JF, Selfe J, Izquierdo E, Patidar R, Chou HC, Song YK, Yohe ME, Sindiri S, Wei J, Wen X, Rudzinski ER, Barkauskas DA, Lo T, Hall D, Linardic CM, Hughes D, Jamal S, Jenney M, Chisholm J, Brown R, Jones K, Hicks B, Angelini P, George S, Chesler L, Hubank M, Kelsey A, Gatz SA, Skapek SX, Hawkins DS, Shipley JM, Khan J
J Clin Oncol 2021 Sep 10;39(26):2859-2871. Epub 2021 Jun 24 doi: 10.1200/JCO.20.03060. PMID: 34166060Free PMC Article
Giacomelli AO, Yang X, Lintner RE, McFarland JM, Duby M, Kim J, Howard TP, Takeda DY, Ly SH, Kim E, Gannon HS, Hurhula B, Sharpe T, Goodale A, Fritchman B, Steelman S, Vazquez F, Tsherniak A, Aguirre AJ, Doench JG, Piccioni F, Roberts CWM, Meyerson M, Getz G, Johannessen CM, Root DE, Hahn WC
Nat Genet 2018 Oct;50(10):1381-1387. Epub 2018 Sep 17 doi: 10.1038/s41588-018-0204-y. PMID: 30224644Free PMC Article
Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article

Recent systematic reviews

Coelho R, Tozzi A, Disler M, Lombardo F, Fedier A, López MN, Freuler F, Jacob F, Heinzelmann-Schwarz V
Cell Death Dis 2022 Oct 28;13(10):909. doi: 10.1038/s41419-022-05347-x. PMID: 36307400Free PMC Article
Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S
Eur J Med Genet 2022 Feb;65(2):104422. Epub 2022 Jan 10 doi: 10.1016/j.ejmg.2022.104422. PMID: 35026468
Girolami I, Lucenteforte E, Eccher A, Marletta S, Brunelli M, Graziano P, Pisapia P, Malapelle U, Troncone G, Scarpa A, Huang T, Pantanowitz L
Cancer Cytopathol 2022 Feb;130(2):96-109. Epub 2021 Sep 3 doi: 10.1002/cncy.22509. PMID: 34478240
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Ramos Hernández C, Mouronte-Roibás C, Barros-Dios JM, Fernández-Villar A, Ruano-Ravina A
Tumori 2017 Jul 31;103(4):338-344. Epub 2017 Mar 18 doi: 10.5301/tj.5000621. PMID: 28315511

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