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Deletion Mutation

MedGen UID:
268339
Concept ID:
C1511760
Cell or Molecular Dysfunction
Synonyms: Deletion Mutations; Mutation, Deletion; Mutations, Deletion

Definition

Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Hayashi H, Nadal E, Gray JE, Ardizzoni A, Caria N, Puri T, Grohe C
Clin Lung Cancer 2022 Jan;23(1):e69-e82. Epub 2021 Oct 25 doi: 10.1016/j.cllc.2021.10.009. PMID: 34865963
Jamroziak K, Puła B, Walewski J
Curr Treat Options Oncol 2017 Jan;18(1):5. doi: 10.1007/s11864-017-0448-2. PMID: 28185174
Shibata A, Akiyama M
Pediatr Int 2015 Aug;57(4):516-22. Epub 2015 Jul 14 doi: 10.1111/ped.12638. PMID: 25857373

Recent clinical studies

Etiology

Weeden CE, Hill W, Lim EL, Grönroos E, Swanton C
Cell 2023 Apr 13;186(8):1541-1563. doi: 10.1016/j.cell.2023.03.013. PMID: 37059064
Abbosh C, Frankell AM, Harrison T, Kisistok J, Garnett A, Johnson L, Veeriah S, Moreau M, Chesh A, Chaunzwa TL, Weiss J, Schroeder MR, Ward S, Grigoriadis K, Shahpurwalla A, Litchfield K, Puttick C, Biswas D, Karasaki T, Black JRM, Martínez-Ruiz C, Bakir MA, Pich O, Watkins TBK, Lim EL, Huebner A, Moore DA, Godin-Heymann N, L'Hernault A, Bye H, Odell A, Roberts P, Gomes F, Patel AJ, Manzano E, Hiley CT, Carey N, Riley J, Cook DE, Hodgson D, Stetson D, Barrett JC, Kortlever RM, Evan GI, Hackshaw A, Daber RD, Shaw JA, Aerts HJWL, Licon A, Stahl J, Jamal-Hanjani M; TRACERx Consortium, Birkbak NJ, McGranahan N, Swanton C
Nature 2023 Apr;616(7957):553-562. Epub 2023 Apr 13 doi: 10.1038/s41586-023-05776-4. PMID: 37055640Free PMC Article
Au L, Hatipoglu E, Robert de Massy M, Litchfield K, Beattie G, Rowan A, Schnidrig D, Thompson R, Byrne F, Horswell S, Fotiadis N, Hazell S, Nicol D, Shepherd STC, Fendler A, Mason R, Del Rosario L, Edmonds K, Lingard K, Sarker S, Mangwende M, Carlyle E, Attig J, Joshi K, Uddin I, Becker PD, Sunderland MW, Akarca A, Puccio I, Yang WW, Lund T, Dhillon K, Vasquez MD, Ghorani E, Xu H, Spencer C, López JI, Green A, Mahadeva U, Borg E, Mitchison M, Moore DA, Proctor I, Falzon M, Pickering L, Furness AJS, Reading JL, Salgado R, Marafioti T, Jamal-Hanjani M; PEACE Consortium, Kassiotis G, Chain B, Larkin J, Swanton C, Quezada SA, Turajlic S; TRACERx Renal Consortium
Cancer Cell 2021 Nov 8;39(11):1497-1518.e11. Epub 2021 Oct 28 doi: 10.1016/j.ccell.2021.10.001. PMID: 34715028Free PMC Article
Litchfield K, Reading JL, Puttick C, Thakkar K, Abbosh C, Bentham R, Watkins TBK, Rosenthal R, Biswas D, Rowan A, Lim E, Al Bakir M, Turati V, Guerra-Assunção JA, Conde L, Furness AJS, Saini SK, Hadrup SR, Herrero J, Lee SH, Van Loo P, Enver T, Larkin J, Hellmann MD, Turajlic S, Quezada SA, McGranahan N, Swanton C
Cell 2021 Feb 4;184(3):596-614.e14. Epub 2021 Jan 27 doi: 10.1016/j.cell.2021.01.002. PMID: 33508232Free PMC Article
Fischer K, Al-Sawaf O, Bahlo J, Fink AM, Tandon M, Dixon M, Robrecht S, Warburton S, Humphrey K, Samoylova O, Liberati AM, Pinilla-Ibarz J, Opat S, Sivcheva L, Le Dû K, Fogliatto LM, Niemann CU, Weinkove R, Robinson S, Kipps TJ, Boettcher S, Tausch E, Humerickhouse R, Eichhorst B, Wendtner CM, Langerak AW, Kreuzer KA, Ritgen M, Goede V, Stilgenbauer S, Mobasher M, Hallek M
N Engl J Med 2019 Jun 6;380(23):2225-2236. Epub 2019 Jun 4 doi: 10.1056/NEJMoa1815281. PMID: 31166681

Diagnosis

Huntley C, Torr B, Sud A, Rowlands CF, Way R, Snape K, Hanson H, Swanton C, Broggio J, Lucassen A, McCartney M, Houlston RS, Hingorani AD, Jones ME, Turnbull C
Lancet Oncol 2023 Jun;24(6):658-668. Epub 2023 May 10 doi: 10.1016/S1470-2045(23)00156-0. PMID: 37178708
Ma J, Song X, Li M, Yu Z, Cheng W, Yu Z, Zhang W, Zhang Y, Shen A, Sun H, Li L
Microbiol Res 2023 Jan;266:127249. Epub 2022 Nov 4 doi: 10.1016/j.micres.2022.127249. PMID: 36356348
Jamshidi A, Liu MC, Klein EA, Venn O, Hubbell E, Beausang JF, Gross S, Melton C, Fields AP, Liu Q, Zhang N, Fung ET, Kurtzman KN, Amini H, Betts C, Civello D, Freese P, Calef R, Davydov K, Fayzullina S, Hou C, Jiang R, Jung B, Tang S, Demas V, Newman J, Sakarya O, Scott E, Shenoy A, Shojaee S, Steffen KK, Nicula V, Chien TC, Bagaria S, Hunkapiller N, Desai M, Dong Z, Richards DA, Yeatman TJ, Cohn AL, Thiel DD, Berry DA, Tummala MK, McIntyre K, Sekeres MA, Bryce A, Aravanis AM, Seiden MV, Swanton C
Cancer Cell 2022 Dec 12;40(12):1537-1549.e12. Epub 2022 Nov 17 doi: 10.1016/j.ccell.2022.10.022. PMID: 36400018
Weller M, Butowski N, Tran DD, Recht LD, Lim M, Hirte H, Ashby L, Mechtler L, Goldlust SA, Iwamoto F, Drappatz J, O'Rourke DM, Wong M, Hamilton MG, Finocchiaro G, Perry J, Wick W, Green J, He Y, Turner CD, Yellin MJ, Keler T, Davis TA, Stupp R, Sampson JH; ACT IV trial investigators
Lancet Oncol 2017 Oct;18(10):1373-1385. Epub 2017 Aug 23 doi: 10.1016/S1470-2045(17)30517-X. PMID: 28844499
Garzon R, Calin GA, Croce CM
Annu Rev Med 2009;60:167-79. doi: 10.1146/annurev.med.59.053006.104707. PMID: 19630570

Therapy

Abbosh C, Frankell AM, Harrison T, Kisistok J, Garnett A, Johnson L, Veeriah S, Moreau M, Chesh A, Chaunzwa TL, Weiss J, Schroeder MR, Ward S, Grigoriadis K, Shahpurwalla A, Litchfield K, Puttick C, Biswas D, Karasaki T, Black JRM, Martínez-Ruiz C, Bakir MA, Pich O, Watkins TBK, Lim EL, Huebner A, Moore DA, Godin-Heymann N, L'Hernault A, Bye H, Odell A, Roberts P, Gomes F, Patel AJ, Manzano E, Hiley CT, Carey N, Riley J, Cook DE, Hodgson D, Stetson D, Barrett JC, Kortlever RM, Evan GI, Hackshaw A, Daber RD, Shaw JA, Aerts HJWL, Licon A, Stahl J, Jamal-Hanjani M; TRACERx Consortium, Birkbak NJ, McGranahan N, Swanton C
Nature 2023 Apr;616(7957):553-562. Epub 2023 Apr 13 doi: 10.1038/s41586-023-05776-4. PMID: 37055640Free PMC Article
Ma J, Song X, Li M, Yu Z, Cheng W, Yu Z, Zhang W, Zhang Y, Shen A, Sun H, Li L
Microbiol Res 2023 Jan;266:127249. Epub 2022 Nov 4 doi: 10.1016/j.micres.2022.127249. PMID: 36356348
Au L, Hatipoglu E, Robert de Massy M, Litchfield K, Beattie G, Rowan A, Schnidrig D, Thompson R, Byrne F, Horswell S, Fotiadis N, Hazell S, Nicol D, Shepherd STC, Fendler A, Mason R, Del Rosario L, Edmonds K, Lingard K, Sarker S, Mangwende M, Carlyle E, Attig J, Joshi K, Uddin I, Becker PD, Sunderland MW, Akarca A, Puccio I, Yang WW, Lund T, Dhillon K, Vasquez MD, Ghorani E, Xu H, Spencer C, López JI, Green A, Mahadeva U, Borg E, Mitchison M, Moore DA, Proctor I, Falzon M, Pickering L, Furness AJS, Reading JL, Salgado R, Marafioti T, Jamal-Hanjani M; PEACE Consortium, Kassiotis G, Chain B, Larkin J, Swanton C, Quezada SA, Turajlic S; TRACERx Renal Consortium
Cancer Cell 2021 Nov 8;39(11):1497-1518.e11. Epub 2021 Oct 28 doi: 10.1016/j.ccell.2021.10.001. PMID: 34715028Free PMC Article
Thomsen G, Burghes AHM, Hsieh C, Do J, Chu BTT, Perry S, Barkho B, Kaufmann P, Sproule DM, Feltner DE, Chung WK, McGovern VL, Hevner RF, Conces M, Pierson CR, Scoto M, Muntoni F, Mendell JR, Foust KD
Nat Med 2021 Oct;27(10):1701-1711. Epub 2021 Oct 4 doi: 10.1038/s41591-021-01483-7. PMID: 34608334
Fischer K, Al-Sawaf O, Bahlo J, Fink AM, Tandon M, Dixon M, Robrecht S, Warburton S, Humphrey K, Samoylova O, Liberati AM, Pinilla-Ibarz J, Opat S, Sivcheva L, Le Dû K, Fogliatto LM, Niemann CU, Weinkove R, Robinson S, Kipps TJ, Boettcher S, Tausch E, Humerickhouse R, Eichhorst B, Wendtner CM, Langerak AW, Kreuzer KA, Ritgen M, Goede V, Stilgenbauer S, Mobasher M, Hallek M
N Engl J Med 2019 Jun 6;380(23):2225-2236. Epub 2019 Jun 4 doi: 10.1056/NEJMoa1815281. PMID: 31166681

Prognosis

Virassamy B, Caramia F, Savas P, Sant S, Wang J, Christo SN, Byrne A, Clarke K, Brown E, Teo ZL, von Scheidt B, Freestone D, Gandolfo LC, Weber K, Teply-Szymanski J, Li R, Luen SJ, Denkert C, Loibl S, Lucas O, Swanton C, Speed TP, Darcy PK, Neeson PJ, Mackay LK, Loi S
Cancer Cell 2023 Mar 13;41(3):585-601.e8. Epub 2023 Feb 23 doi: 10.1016/j.ccell.2023.01.004. PMID: 36827978
Jamshidi A, Liu MC, Klein EA, Venn O, Hubbell E, Beausang JF, Gross S, Melton C, Fields AP, Liu Q, Zhang N, Fung ET, Kurtzman KN, Amini H, Betts C, Civello D, Freese P, Calef R, Davydov K, Fayzullina S, Hou C, Jiang R, Jung B, Tang S, Demas V, Newman J, Sakarya O, Scott E, Shenoy A, Shojaee S, Steffen KK, Nicula V, Chien TC, Bagaria S, Hunkapiller N, Desai M, Dong Z, Richards DA, Yeatman TJ, Cohn AL, Thiel DD, Berry DA, Tummala MK, McIntyre K, Sekeres MA, Bryce A, Aravanis AM, Seiden MV, Swanton C
Cancer Cell 2022 Dec 12;40(12):1537-1549.e12. Epub 2022 Nov 17 doi: 10.1016/j.ccell.2022.10.022. PMID: 36400018
Javle M, Borad MJ, Azad NS, Kurzrock R, Abou-Alfa GK, George B, Hainsworth J, Meric-Bernstam F, Swanton C, Sweeney CJ, Friedman CF, Bose R, Spigel DR, Wang Y, Levy J, Schulze K, Cuchelkar V, Patel A, Burris H
Lancet Oncol 2021 Sep;22(9):1290-1300. Epub 2021 Jul 30 doi: 10.1016/S1470-2045(21)00336-3. PMID: 34339623
Bailey C, Black JRM, Reading JL, Litchfield K, Turajlic S, McGranahan N, Jamal-Hanjani M, Swanton C
Cancer Discov 2021 Apr;11(4):916-932. doi: 10.1158/2159-8290.CD-20-1559. PMID: 33811124Free PMC Article
Litchfield K, Reading JL, Puttick C, Thakkar K, Abbosh C, Bentham R, Watkins TBK, Rosenthal R, Biswas D, Rowan A, Lim E, Al Bakir M, Turati V, Guerra-Assunção JA, Conde L, Furness AJS, Saini SK, Hadrup SR, Herrero J, Lee SH, Van Loo P, Enver T, Larkin J, Hellmann MD, Turajlic S, Quezada SA, McGranahan N, Swanton C
Cell 2021 Feb 4;184(3):596-614.e14. Epub 2021 Jan 27 doi: 10.1016/j.cell.2021.01.002. PMID: 33508232Free PMC Article

Clinical prediction guides

Martínez-Ruiz C, Black JRM, Puttick C, Hill MS, Demeulemeester J, Larose Cadieux E, Thol K, Jones TP, Veeriah S, Naceur-Lombardelli C, Toncheva A, Prymas P, Rowan A, Ward S, Cubitt L, Athanasopoulou F, Pich O, Karasaki T, Moore DA, Salgado R, Colliver E, Castignani C, Dietzen M, Huebner A, Al Bakir M, Tanić M, Watkins TBK, Lim EL, Al-Rashed AM, Lang D, Clements J, Cook DE, Rosenthal R, Wilson GA, Frankell AM, de Carné Trécesson S, East P, Kanu N, Litchfield K, Birkbak NJ, Hackshaw A, Beck S, Van Loo P, Jamal-Hanjani M; TRACERx Consortium, Swanton C, McGranahan N
Nature 2023 Apr;616(7957):543-552. Epub 2023 Apr 12 doi: 10.1038/s41586-023-05706-4. PMID: 37046093Free PMC Article
Jamshidi A, Liu MC, Klein EA, Venn O, Hubbell E, Beausang JF, Gross S, Melton C, Fields AP, Liu Q, Zhang N, Fung ET, Kurtzman KN, Amini H, Betts C, Civello D, Freese P, Calef R, Davydov K, Fayzullina S, Hou C, Jiang R, Jung B, Tang S, Demas V, Newman J, Sakarya O, Scott E, Shenoy A, Shojaee S, Steffen KK, Nicula V, Chien TC, Bagaria S, Hunkapiller N, Desai M, Dong Z, Richards DA, Yeatman TJ, Cohn AL, Thiel DD, Berry DA, Tummala MK, McIntyre K, Sekeres MA, Bryce A, Aravanis AM, Seiden MV, Swanton C
Cancer Cell 2022 Dec 12;40(12):1537-1549.e12. Epub 2022 Nov 17 doi: 10.1016/j.ccell.2022.10.022. PMID: 36400018
Bailey C, Black JRM, Reading JL, Litchfield K, Turajlic S, McGranahan N, Jamal-Hanjani M, Swanton C
Cancer Discov 2021 Apr;11(4):916-932. doi: 10.1158/2159-8290.CD-20-1559. PMID: 33811124Free PMC Article
Litchfield K, Reading JL, Puttick C, Thakkar K, Abbosh C, Bentham R, Watkins TBK, Rosenthal R, Biswas D, Rowan A, Lim E, Al Bakir M, Turati V, Guerra-Assunção JA, Conde L, Furness AJS, Saini SK, Hadrup SR, Herrero J, Lee SH, Van Loo P, Enver T, Larkin J, Hellmann MD, Turajlic S, Quezada SA, McGranahan N, Swanton C
Cell 2021 Feb 4;184(3):596-614.e14. Epub 2021 Jan 27 doi: 10.1016/j.cell.2021.01.002. PMID: 33508232Free PMC Article
Fischer K, Al-Sawaf O, Bahlo J, Fink AM, Tandon M, Dixon M, Robrecht S, Warburton S, Humphrey K, Samoylova O, Liberati AM, Pinilla-Ibarz J, Opat S, Sivcheva L, Le Dû K, Fogliatto LM, Niemann CU, Weinkove R, Robinson S, Kipps TJ, Boettcher S, Tausch E, Humerickhouse R, Eichhorst B, Wendtner CM, Langerak AW, Kreuzer KA, Ritgen M, Goede V, Stilgenbauer S, Mobasher M, Hallek M
N Engl J Med 2019 Jun 6;380(23):2225-2236. Epub 2019 Jun 4 doi: 10.1056/NEJMoa1815281. PMID: 31166681

Recent systematic reviews

Xiao X, Li M, Ye Z, He X, Wei J, Zha Y
Amyotroph Lateral Scler Frontotemporal Degener 2024 Feb;25(1-2):1-15. Epub 2024 Jan 23 doi: 10.1080/21678421.2023.2272170. PMID: 37926865
Wu IC, Liu WC, Chang TT
J Biomed Sci 2018 Jun 2;25(1):51. doi: 10.1186/s12929-018-0442-4. PMID: 29859540Free PMC Article

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