StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	1,2,15	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient1_child	AB SOLiD 4 System	chr2:173635809-173636102:-1;chr2:178960434-178966476:-1;chr2:145581576-145599659:-1;chr2:128911531-129009714:-1;chr2:178122186-178703789:-1;chr2:143596932-144357565:-1;chr2:124075514-127121524:-1	hs1:243411172-243412608,hs2:146558384-146560016;hs1:243412915-243416373,hs2:124072892-124075186;hs1:247929824-247932508,hs2:145578477-145581427;hs1:247933718-247935923,hs2:173101937-173105197;hs2:127121662-127124079,hs2:178118299-178122101;hs2:128506785-128511173,hs2:128908136-128911334;hs2:128900068-128903965,hs15:27746706-27750284;hs2:128904215-128906395,hs2:129010017-129011058;hs2:128907892-128911115,hs2:145624203-145627873;hs2:143593314-143596595,hs2:144357834-144359901;hs2:145492925-145496715,hs2:173097546-173101766;hs2:145497032-145499296,hs2:178957564-178960096;hs2:145600136-145602568,hs2:145628493-145631256;hs2:146553193-146556447,hs2:173636118-173638697;hs2:148129150-148132374,hs2:174865844-174868962;hs2:148132740-148134862,hs2:174862474-174865044;hs2:173632317-173635702,hs15:27742915-27746403;hs2:178703965-178707145,hs2:178966636-178969213;hs2:128502732-128505748,hs2:128904203-128906409		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	2,8,13	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient2_child	AB SOLiD 4 System	chr8:47918851-47918854:-1;chr13:108222644-108222647:-1;chr2:147801056-147801060:-1;chr8:87670313-87670319:-1;chr13:106187424-106187431:-1;chr13:90127871-90127888:-1;chr8:115818900-115818963:-1;chr2:166014695-166016745:-1;chr13:108216350-108221577:-1;chr13:93370259-93604112:-1;chr2:191897300-194718047:-1;chr2:163141421-166011053:-1;chr2:166014625-166014621:1;chr8:47912515-47912514:1;chr2:148535082-148535082:1;chr13:111879781-111879781:1	hs2:147797698-147801010,hs8:116895627-116898981;hs13:108212580-108216229,hs13:111876035-111879588;hs2:148531325-148534948,hs8:115815125-115818679;hs2:153601572-153605077,hs2:160119416-160123210;hs8:115819103-115822070,hs8:116899526-116902647;hs2:147801050-147804745,hs2:148535258-148538722;hs8:87503991-87507681,hs13:93604139-93607506;hs13:90123892-90127819,hs13:93366610-93369965;hs8:47912597-47915396,hs8:87670525-87674663;hs8:87500983-87503861,hs8:87667009-87669639;hs2:163137520-163141373,hs2:166011421-166014559;hs8:84214080-84217369,hs13:106187688-106191123;hs13:90127935-90131228,hs13:106183766-106187365;hs2:153621846-153625100,hs2:160123294-160127003;hs8:48086057-48089296,hs8:84218139-84224980;hs8:47915790-47918709,hs8:48081547-48084526;hs2:166011148-166014091,hs2:166016838-166020383;hs13:108221815-108222565,hs13:108223657-108226429;hs13:108221938-108222608,hs13:111881628-111883998;hs8:47908213-47912432,hs8:47918838-47921877;hs2:191894679-191897220,hs2:194718106-194721516		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	1,3,7,12	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient3_child	AB SOLiD 4 System	chr3:71078624-71078621:1;chr7:19320228-19320226:1;chr1:97683903-97683903:1;chr7:19114083-19114085:-1;chr1:95146001-95146004:-1;chr12:63505335-63505338:-1;chr1:98219835-98219840:-1;chr7:19003340-19003351:-1;chr7:19512505-19512655:-1;chr3:75208212-76406934:-1;chr7:17140783-18519891:-1;chr7:13962633-15423145:-1;chr7:11404421-13612031:-1	hs1:95143545-95145948,hs1:97683941-97686445;hs1:95145998-95148623,hs3:76407425-76409115;hs1:97681880-97683714,hs7:19111398-19113904;hs1:98218036-98219533,hs7:17138240-17139361;hs1:98219971-98221877,hs7:13960228-13962541;hs3:71076114-71078531,hs3:75205169-75208143;hs3:71078896-71081154,hs7:19000359-19002911;hs7:11401791-11404374,hs7:13612118-13614548;hs7:15423540-15425193,hs12:63503287-63505156;hs7:18519927-18522879,hs7:19317299-19320055;hs7:19003349-19006274,hs7:19114152-19116699;hs7:19510153-19512405,hs12:63505521-63507172;hs7:19320391-19322797,hs7:19512771-19514425		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	2,14	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient4_child	AB SOLiD 4 System	chr14:79136538-79136534:-1;chr2:38345501-38345498:-1	hs2:38343343-38344883,hs14:79136761-79138412;hs2:38345670-38347441,hs14:79133248-79136149;hs14:71206391-71207960,hs14:82090896-82093332;hs14:71204258-71206114,hs14:82088671-82090688		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	6	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient5_child	AB SOLiD 4 System		hs6:49330690-49332603,hs6:53327091-53329211;hs6:49796631-49797278,hs6:84993583-84994052;hs6:50321779-50323964,hs6:54655468-54656553;hs6:53325481-53326844,hs6:84491467-84493206;hs6:50321549-50325789,hs6:54656373-54660096;hs6:51326650-51327743,hs6:54112015-54114279;hs6:52508434-52509910,hs6:54110260-54111080;hs6:50324379-50325713,hs6:54656663-54657903;hs6:84993447-84993553,hs6:96423936-96424166		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	4,8,10,20	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient6_child	AB SOLiD 4 System	chr4:143384762-143384754:1;chr4:122008061-122008054:1;chr4:107840276-107840271:1;chr4:101067666-101067665:1;chr8:128109303-128109303:1;chr10:119944963-119944963:1;chr10:114339361-114339363:-1;chr10:118655641-118655643:-1;chr20:54035355-54035360:-1;chr8:129667371-129667382:-1;chr4:151511931-151511954:-1;chr4:122008107-122008215:-1;chr4:145924134-145929741:-1;chr4:149770244-149791519:-1;chr4:102128766-104640057:-1;chr4:133136227-141993229:-1	hs4:133133185-133135891,hs4:141993252-141996399;hs4:107840319-107842965,hs4:109420612-109423628;hs4:143384774-143387425,hs8:128109571-128112100;hs4:102126233-102128515,hs10:114339489-114342403;hs4:101067986-101071278,hs10:118655643-118658576;hs10:114336536-114339269,hs10:118652430-118655577;hs4:143381854-143384534,hs8:129664308-129667155;hs4:104640064-104642992,hs10:119941564-119944894;hs4:145921501-145924066,hs4:151512450-151515461;hs4:143442035-143443751,hs4:151508728-151511721;hs4:143436471-143439781,hs4:149791618-149794448;hs4:101064731-101067581,hs20:54035382-54037608;hs10:119945272-119947416,hs20:54032823-54035270;hs4:122008261-122011624,hs4:149767569-149770139;hs8:128106730-128109078,hs8:129667834-129669812;hs4:122005620-122007883,hs4:145929750-145933090;hs4:107838052-107839780,hs10:111414267-111416948;hs4:143440657-143442989,hs4:143444329-143447036;hs4:109417384-109420398,hs10:111953671-111956270		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	6,7,9,10,12	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient7_mother	AB SOLiD 4 System		hs7:36718108-36721671,hs12:99787831-99790893;hs9:11739802-11742710,hs9:31460247-31463007;hs9:11758195-11759972,hs12:110263742-110266538;hs9:7104763-7106960,hs12:103464346-103466774;hs9:12236188-12238989,hs9:26965673-26968013;hs9:13236665-13239425,hs12:101859464-101861141;hs6:123750357-123752276,hs9:11743072-11746336;hs6:123765872-123766384,hs12:101856510-101856537;hs9:31433337-31436333,hs9:31463517-31465231;hs9:31471300-31473229,hs12:99435218-99436825;hs6:123748945-123750012,hs6:123768304-123769906;hs10:66227201-66230197,hs12:99785257-99787355;hs9:8118030-8119888,hs10:65848657-65850658;hs7:36714976-36717979,hs12:103467238-103470137;hs9:7107641-7109780,hs9:35723601-35726283;hs9:13334672-13337076,hs9:31473792-31476201;hs9:13240004-13241557,hs9:26962041-26964677;hs9:7116561-7120299,hs9:31436447-31440029;hs9:8121313-8122780,hs9:11760865-11763707;hs9:12233990-12236078,hs12:99431406-99434124;hs9:7113602-7116395,hs12:110267135-110269429;hs9:13337440-13340068,hs12:99636114-99638904;hs10:65844061-65847557,hs10:66230913-66234003		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	7,9,10,12	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient7_child	AB SOLiD 4 System	chr7:36718025-36718027:-1;chr9:11742848-11742851:-1;chr9:31463189-31463192:-1;chr9:31436412-31436439:-1;chr9:7107289-7107387:-1;chr6:123749994-123750143:-1;chr9:13239726-13239970:-1;chr12:99435034-99435026:1;chr9:31473570-31473563:1;chr12:103467187-103467181:1;chr9:12236168-12236165:1;chr9:11760434-11760433:1;chr9:26965302-26965301:1	hs7:36718108-36721671,hs12:99787831-99790893;hs9:11739802-11742710,hs9:31460247-31463007;hs9:11758195-11759972,hs12:110263742-110266538;hs6:123750357-123752276,hs9:11743072-11746336;hs10:66227201-66230197,hs12:99785257-99787355;hs9:8118030-8119888,hs10:65848657-65850658;hs7:36714976-36717979,hs12:103467238-103470137;hs9:7107641-7109780,hs9:35723601-35726283;hs9:13334672-13337076,hs9:31473792-31476201;hs9:13240004-13241557,hs9:26962041-26964677;hs9:7116561-7120299,hs9:31436447-31440029;hs9:8121313-8122780,hs9:11760865-11763707;hs9:12233990-12236078,hs12:99431406-99434124;hs9:7113602-7116395,hs12:110267135-110269429;hs9:13337440-13340068,hs12:99636114-99638904		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA
Research	22813740	Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V,	Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms	Cell Rep	2012 Jun	5	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Patient8_child	AB SOLiD 4 System	chr5:86073427-86073423:1;chr5:85951324-85951326:-1;chr5:87868638-87868756:-1;chr5:85892461-85893557:-1;chr5:158684536-158689801:-1;chr5:87426377-87433416:-1;chr5:85363334-85371155:-1;chr5:158690111-158698437:-1;chr5:86343836-86352568:-1;chr5:86811684-86832176:-1;chr5:158658171-158681667:-1;chr5:158607508-158657977:-1;chr5:85289234-85361626:-1;chr5:85991759-86069335:-1;chr5:158400232-158515794:-1;chr5:87869800-88154277:-1;chr5:87472658-87866129:-1	hs5:85288262-85289063,hs5:87471596-87472480;hs5:85361748-85363159,hs5:85986973-85988074;hs5:85362297-85363176,hs5:85949965-85951002;hs5:85371275-85372561,hs5:158398863-158400207;hs5:85891815-85892371,hs5:87433424-87434332;hs5:85893782-85894176,hs5:87869006-87869529;hs5:85951411-85952184,hs5:158698680-158700075;hs5:85988366-85989838,hs5:87866188-87867502;hs5:86072712-86073373,hs5:87867565-87868374;hs5:86073542-86074750,hs5:158681697-158682944;hs5:86342145-86343603,hs5:86832213-86833137;hs5:86699993-86701408,hs5:88154363-88155823;hs5:87425754-87426279,hs5:158606012-158607009;hs5:87868652-87869713,hs5:158682840-158684494;hs5:86810647-86811269,hs5:158516037-158517066;hs5:85948396-85949213,hs5:86069481-86070538;hs5:85893996-85894198,hs5:85990821-85991347		Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands	Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.	GRCh37/hg19			ERP001035	No	NA