U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
Charles NJ, Boyer DF
Arch Pathol Lab Med 2017 Nov;141(11):1462-1468. doi: 10.5858/arpa.2017-0218-RA. PMID: 29072953

Recent clinical studies

Etiology

Trunca C, Mendell NR, Schilit SLP
Curr Protoc 2022 Dec;2(12):e633. doi: 10.1002/cpz1.633. PMID: 36571718Free PMC Article
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
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
Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW
Eur J Hum Genet 2011 Mar;19(3):280-6. Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.184. PMID: 21150890Free PMC Article
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ
Am J Hum Genet 2001 Jan;68(1):64-80. Epub 2000 Dec 8 doi: 10.1086/316951. PMID: 11112665Free PMC Article

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
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
Helsten T, Elkin S, Arthur E, Tomson BN, Carter J, Kurzrock R
Clin Cancer Res 2016 Jan 1;22(1):259-67. Epub 2015 Sep 15 doi: 10.1158/1078-0432.CCR-14-3212. PMID: 26373574
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

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
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
Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, Welch JS, Ritchey JK, Young MA, Lamprecht T, McLellan MD, McMichael JF, Wallis JW, Lu C, Shen D, Harris CC, Dooling DJ, Fulton RS, Fulton LL, Chen K, Schmidt H, Kalicki-Veizer J, Magrini VJ, Cook L, McGrath SD, Vickery TL, Wendl MC, Heath S, Watson MA, Link DC, Tomasson MH, Shannon WD, Payton JE, Kulkarni S, Westervelt P, Walter MJ, Graubert TA, Mardis ER, Wilson RK, DiPersio JF
Nature 2012 Jan 11;481(7382):506-10. doi: 10.1038/nature10738. PMID: 22237025Free PMC Article

Prognosis

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
Helsten T, Elkin S, Arthur E, Tomson BN, Carter J, Kurzrock R
Clin Cancer Res 2016 Jan 1;22(1):259-67. Epub 2015 Sep 15 doi: 10.1158/1078-0432.CCR-14-3212. PMID: 26373574
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
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
Helsten T, Elkin S, Arthur E, Tomson BN, Carter J, Kurzrock R
Clin Cancer Res 2016 Jan 1;22(1):259-67. Epub 2015 Sep 15 doi: 10.1158/1078-0432.CCR-14-3212. PMID: 26373574

Recent systematic reviews

Zhang S, Yin L, Ma L, Sun H
J Magn Reson Imaging 2023 Nov;58(5):1338-1352. Epub 2023 Apr 21 doi: 10.1002/jmri.28737. PMID: 37083159
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
Shuch B, Amin A, Armstrong AJ, Eble JN, Ficarra V, Lopez-Beltran A, Martignoni G, Rini BI, Kutikov A
Eur Urol 2015 Jan;67(1):85-97. Epub 2014 May 21 doi: 10.1016/j.eururo.2014.04.029. PMID: 24857407

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...