Editing Chromosomal translocation (section)

===Examples of translocations on human chromosomes===
{{For|an explanation of the symbols and abbreviations used in these examples|Cytogenetic notation}}

{| class="wikitable"
! rowspan="2" | Translocation !! rowspan="2" | Associated diseases !! colspan="2" | Fused genes/proteins
|-
! First !! Second
|-
| t(8;14)(q24;q32) || [[Burkitt's lymphoma]] 
– occurs in ~70% of cases, places '''MYC''' under IGH enhancer control <ref>{{Cite journal |last=Zheng |first=Jie |date=2013-11-01 |title=Oncogenic chromosomal translocations and human cancer (Review) |url=https://www.spandidos-publications.com/10.3892/or.2013.2677#:~:text=The%20reason%20why%2070,stimulated,%20the%20MYC%20gene%20is |journal=Oncology Reports |volume=30 |issue=5 |pages=2011–2019 |doi=10.3892/or.2013.2677 |pmid=23970180 |issn=1021-335X}}</ref> 
| [[c-myc]] on chromosome 8,<br> gives the [[fusion protein]] lymphocyte-proliferative ability || [[IGH@]] (immunoglobulin heavy locus) on chromosome 14,<br> induces massive transcription of fusion protein
|-
| t(11;14)(q13;q32) || [[Mantle cell lymphoma]]<ref name="jy" /> – present in most cases <ref>{{Cite journal |last=Zheng |first=Jie |date=2013-11-01 |title=Oncogenic chromosomal translocations and human cancer (Review) |url=https://www.spandidos-publications.com/10.3892/or.2013.2677#:~:text=be%20used%20to%20distinguish%20follicular,transcriptional%20repressor%20that%20inhibits%20the |journal=Oncology Reports |volume=30 |issue=5 |pages=2011–2019 |doi=10.3892/or.2013.2677 |pmid=23970180 |issn=1021-335X}}</ref>
| [[cyclin D1]]<ref name="jy">{{cite journal |vauthors=Li JY, Gaillard F, Moreau A |title=Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization |journal=Am. J. Pathol. |volume=154 |issue=5 |pages=1449–52 |date=May 1999 |pmid=10329598 |pmc=1866594 |doi= 10.1016/S0002-9440(10)65399-0|display-authors=etal}}</ref> on chromosome 11,<br> gives fusion protein cell-proliferative ability || [[IGH@]]<ref name="jy" /> (immunoglobulin heavy locus) on chromosome 14,<br> induces massive transcription of fusion protein
|-
| t(14;18)(q32;q21) || [[Follicular lymphoma]] (~90% of cases)<ref name="Tietz2011" /> || [[IGH@]]<ref name="jy" /> (immunoglobulin heavy locus) on chromosome 14,<br> induces massive transcription of fusion protein || [[Bcl-2]] on chromosome 18,<br> gives fusion protein anti-apoptotic abilities
|-
| t(10;(various))(q11;(various)) || [[Papillary thyroid cancer]]<ref name="Kumar20" /> || [[RET proto-oncogene]]<ref name="Kumar20" /> on chromosome 10 || PTC (''Papillary Thyroid Cancer'') – Placeholder for any of several other genes/proteins<ref name="Kumar20" />
|-
| t(2;3)(q13;p25) || [[Follicular thyroid cancer]]<ref name="Kumar20">{{cite book |last4=Mitchell|first4=Richard Sheppard |last1=Kumar|first1=Vinay |last2=Abbas|first2=Abul K. |last3=Fausto|first3=Nelson |title=Robbins Basic Pathology|publisher=Saunders |location=Philadelphia |isbn=978-1-4160-2973-1 |year=2007|edition=8th|chapter=Chapter 20: The Endocrine System }}</ref> || PAX8 – [[paired box gene 8]]<ref name="Kumar20" /> on chromosome 2 || PPARγ1<ref name="Kumar20" /> ([[peroxisome proliferator-activated receptor γ]] 1) on chromosome 3
|-
| t(8;21)(q22;q22)<ref name="Tietz2011" /> || [[Acute myeloblastic leukemia with maturation]] || [[RUNX1T1|ETO]] on chromosome 8 || [[RUNX1|AML1]] on chromosome 21<br>found in ~7% of new cases of AML, carries a favorable prognosis and predicts good response to [[cytosine arabinoside]] therapy<ref name="Tietz2011" />
|-
| t(9;22)(q34;q11) [[Philadelphia chromosome]]|| [[Chronic myelogenous leukemia]] (CML), [[acute lymphoblastic leukemia]] (ALL) || [[Abl gene|''Abl1'' gene]] on chromosome 9<ref name="pmid12755554" /> || ''[[BCR gene|BCR]]'' ("breakpoint cluster region" on [[chromosome 22]]<ref name="pmid12755554">{{cite journal |vauthors=Kurzrock R, Kantarjian HM, Druker BJ, Talpaz M |title=Philadelphia chromosome-positive leukemias: from basic mechanisms to molecular therapeutics |journal=Ann. Intern. Med. |volume=138 |issue=10 |pages=819–30 |date=May 2003 |pmid=12755554 |doi= 10.7326/0003-4819-138-10-200305200-00010|s2cid=25865321 }}</ref>
|-
| t(15;17)(q22;q21)<ref name="Tietz2011">{{cite book|last1=Burtis|first1=Carl A. |last2=Ashwood|first2=Edward R. |last3=Bruns|first3=David E. |title=Tietz Textbook of Clinical Chemistry and Molecular Diagnostics|chapter-url=https://books.google.com/books?id=BBLRUI4aHhkC|access-date=November 5, 2012|date=December 16, 2011|publisher=Elsevier Health Sciences|isbn=978-1-4557-5942-2|pages=1371–1396|chapter=44. Hematopoeitic malignancies}}</ref> || [[Acute promyelocytic leukemia]] || [[PML protein]] on chromosome 15 || [[Retinoic acid receptor alpha|RAR-α]] on chromosome 17<br>persistent laboratory detection of the PML-RARA transcript is strong predictor of relapse<ref name="Tietz2011" />
|-
| t(12;15)(p13;q25) || Acute myeloid leukemia, congenital fibrosarcoma, secretory breast carcinoma, mammary analogue secretory carcinoma of salivary glands, cellular variant of mesoblastic nephroma || [[ETV6|TEL]] on chromosome 12 || [[TrkC receptor]] on chromosome 15
|-
| t(9;12)(p24;p13) || [[chronic myelogenous leukemia|CML]], [[acute lymphoblastic leukemia|ALL]] || [[Janus kinase 2|JAK]] on chromosome 9 || [[ETV6|TEL]] on chromosome 12
|-
| t(12;16)(q13;p11) || [[Myxoid liposarcoma]] || [[DDIT3]] (formerly CHOP) on chromosome 12 || [[FUS (gene)|FUS]] gene on chromosome 16
|-
| t(12;21)(p12;q22) || [[Acute lymphoblastic leukemia|ALL]] || TEL on chromosome 12 || [[RUNX1|AML1]] on chromosome 21
|-
| t(11;18)(q21;q21) || [[MALT lymphoma]]<ref name="Robbins626">{{cite book |last4=Mitchell|first4=Richard Sheppard |last1=Kumar|first1=Vinay |last2=Abbas|first2=Abul K. |last3=Fausto|first3=Nelson |title=Robbins Basic Pathology|publisher=Saunders |location=Philadelphia |isbn=978-1-4160-2973-1 |year=2007|page=626 |edition=8th}}</ref> || [[Baculoviral IAP repeat-containing protein 3|BIRC3]] (API-2) || [[Paracaspase|MLT]]<ref name="Robbins626" />
|-
| t(1;11)(q42.1;q14.3) || [[Schizophrenia]]<ref name="semple">{{cite journal |vauthors=Semple CA, Devon RS, Le Hellard S, Porteous DJ |title=Identification of genes from a schizophrenia-linked translocation breakpoint region |journal=Genomics |volume=73 |issue=1 |pages=123–6 |date=April 2001 |pmid=11352574 |doi=10.1006/geno.2001.6516 }}</ref> (familial translocation disrupting '''DISC1''')<ref name=":0">{{Cite journal |last1=Eykelenboom |first1=Jennifer E |last2=Briggs |first2=Gareth J |last3=Bradshaw |first3=Nicholas J |last4=Soares |first4=Dinesh C |last5=Ogawa |first5=Fumiaki |last6=Christie |first6=Sheila |last7=Malavasi |first7=Elise LV |last8=Makedonopoulou |first8=Paraskevi |last9=Mackie |first9=Shaun |last10=Malloy |first10=Mary P |last11=Wear |first11=Martin A |last12=Blackburn |first12=Elizabeth A |last13=Bramham |first13=Janice |last14=McIntosh |first14=Andrew M |last15=Blackwood |first15=Douglas H |date=2012-04-30 |title=A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins |journal=Human Molecular Genetics |language=en |volume=21 |issue=15 |pages=3374–3386 |doi=10.1093/hmg/dds169 |pmid=22547224 |pmc=3392113 }}</ref>||  [[DISC1]] (1q42)<ref name=":0" />||DISC1FP1 (11q14)<ref name=":0" />
|-
| t(2;5)(p23;q35) || [[Anaplastic large cell lymphoma]] || [[Anaplastic lymphoma kinase|ALK]] || [[NPM1]]
|-
| t(11;22)(q24;q11.2-12) || [[Ewing's sarcoma]] || [[FLI1]] || [[Ewing sarcoma breakpoint region 1|EWS]]
|-
| t(17;22) || [[Dermatofibrosarcoma protuberans|DFSP]] || COL1A1/[[COL1A1|Collagen I]] on chromosome 17 || [[PDGFB|Platelet derived growth factor B]] on chromosome 22
|-
| t(1;12)(q21;p13) || [[Acute myelogenous leukemia]] (rare subtype)<ref name=":1">{{Cite web |title=t(1;12)(q21;p13) ETV6/ARNT |url=https://atlasgeneticsoncology.org/haematological/1171/t(1;12)(q21;p13)#:~:text=leukemia%20treated%20with%20imatinib%20600,S%C3%A1nchez%20J%20et%20al |access-date=2025-03-12 |website=atlasgeneticsoncology.org}}</ref>||  ETV6 (TEL, 12p13)<ref name=":1" />||ARNT (1q21)<ref name=":1" />
|-
| t(X;18)(p11.2;q11.2) || [[Synovial sarcoma]] - 90% of cases<ref name=":2">{{cite journal |last1=Przybyl |first1=Joanna |last2=Sciot |first2=Raf |last3=Rutkowski |first3=Piotr |last4=Siedlecki |first4=Janusz A. |last5=Vanspauwen |first5=Vanessa |last6=Samson |first6=Ignace |last7=Debiec-Rychter |first7=Maria |title=Recurrent and novel SS18-SSX fusion transcripts in synovial sarcoma: description of three new cases |journal=Tumor Biology |date=December 2012 |volume=33 |issue=6 |pages=2245–2253 |doi=10.1007/s13277-012-0486-0 |pmc=3501176 |pmid=22976541 }}</ref>||  SS18 (18q11)<ref name=":2" />||[[SSX1]]/[[SSX2]] (Xp11)<ref name=":2" />
|-
| t(1;19)(q10;p10) || [[Oligodendroglioma]] and [[oligoastrocytoma]] || colspan="2" |  Associated with the 1p/19q co-deletion in oligodendroglioma and oligoastrocytoma, rather than a specific gene fusion<ref>{{Cite journal |last1=Eckel-Passow |first1=Jeanette E. |last2=Lachance |first2=Daniel H. |last3=Molinaro |first3=Annette M. |last4=Walsh |first4=Kyle M. |last5=Decker |first5=Paul A. |last6=Sicotte |first6=Hugues |last7=Pekmezci |first7=Melike |last8=Rice |first8=Terri |last9=Kosel |first9=Matt L. |last10=Smirnov |first10=Ivan V. |last11=Sarkar |first11=Gobinda |last12=Caron |first12=Alissa A. |last13=Kollmeyer |first13=Thomas M. |last14=Praska |first14=Corinne E. |last15=Chada |first15=Anisha R. |date=2015-06-25 |title=Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors |journal=The New England Journal of Medicine |volume=372 |issue=26 |pages=2499–2508 |doi=10.1056/NEJMoa1407279 |issn=1533-4406 |pmc=4489704 |pmid=26061753}}</ref><ref>{{cite journal |last1=Cairncross |first1=Gregory |last2=Jenkins |first2=Robert |title=Gliomas With 1p/19q Codeletion:a.k.a. Oligodendroglioma |journal=The Cancer Journal |date=November 2008 |volume=14 |issue=6 |pages=352–357 |doi=10.1097/PPO.0b013e31818d8178 |pmid=19060598 }}</ref>
|-
| t(17;19)(q22;p13) || [[Acute lymphoblastic leukemia|Acute Lymphoblastic Leukemia]] very rare subtype, <1% of Acute Lymphoblastic Leukemia. (associated with poor prognosis)<ref name=":3">{{Cite journal |last1=Wu |first1=Shuiyan |last2=Lu |first2=Jun |last3=Su |first3=Dongni |last4=Yang |first4=Fan |last5=Zhang |first5=Yongping |last6=Hu |first6=Shaoyan |date=March 2021 |title=The advantage of chimeric antigen receptor T cell therapy in pediatric acute lymphoblastic leukemia with E2A-HLF fusion gene positivity: a case series |journal=Translational Pediatrics |language=en |volume=10 |issue=3 |pages=686–691 |doi=10.21037/tp-20-323 |doi-access=free |pmid=33880339 |pmc=8041607 |issn=2224-4344}}</ref>||  [[TCF3]] (E2A, 19p13)<ref name=":3" />||[[HLF (gene)|HLF]] (17q22)<ref name=":3" />
|-
| t(7,16) (q32-34;p11) or t(11,16) (p11;p11) || [[Low-grade fibromyxoid sarcoma]] – most cases <ref name=":4">{{cite journal |last1=Mohamed |first1=Mustafa |last2=Fisher |first2=Cyril |last3=Thway |first3=Khin |title=Low-grade fibromyxoid sarcoma: Clinical, morphologic and genetic features |journal=Annals of Diagnostic Pathology |date=June 2017 |volume=28 |pages=60–67 |doi=10.1016/j.anndiagpath.2017.04.001 |pmid=28648941 }}</ref>|| [[FUS (gene)|FUS]] (16p11)<ref name=":4" />|| [[CREB3L1]] (11p11)<ref name=":4" />
|}