StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	23738515	Mehine M, Kaasinen E, Makinen N, Katainen R, Kampjarvi K, Pitkanen E, Heinonen HR, Butzow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjoberg J, Vahteristo P, Aaltonen LA	Characterization of Uterine Leiomyomas by Whole-Genome Sequencing	N Engl J Med	2013 Jun	1,17	Uterine leiomyoma	Next Generation Sequencing	Homo sapiens	MY10m3	Illumina + Complete Genomics			TP53;NF1	Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland	BACKGROUND: Uterine leiomyomas are benign but affect the health of millions of women. A better understanding of the molecular mechanisms involved may provide clues to the prevention and treatment of these lesions. METHODS: We performed whole-genome sequencing and gene-expression profiling of 38 uterine leiomyomas and the corresponding myometrium from 30 women. RESULTS: Identical variants observed in some separate tumor nodules suggested that these nodules have a common origin. Complex chromosomal rearrangements resembling chromothripsis were a common feature of leiomyomas. These rearrangements are best explained by a single event of multiple chromosomal breaks and random reassembly. The rearrangements created tissue-specific changes consistent with a role in the initiation of leiomyoma, such as translocations of the HMGA2 and RAD51B loci and aberrations at the COL4A5-COL4A6 locus, and occurred in the presence of normal TP53 alleles. In some cases, separate events had occurred more than once in single tumor-cell lineages. CONCLUSIONS: Chromosome shattering and reassembly resembling chromothripsis (a single genomic event that results in focal losses and rearrangements in multiple genomic regions) is a major cause of chromosomal abnormalities in uterine leiomyomas; we propose that tumorigenesis occurs when tissue-specific tumor-promoting changes are formed through these events. Chromothripsis has previously been associated with aggressive cancer; its common occurrence in leiomyomas suggests that it also has a role in the genesis and progression of benign tumors. We observed that multiple separate tumors could be seeded from a single lineage of uterine leiomyoma cells.	GRCh37/hg19			ERP004006	Yes	NA
Research	23738515	Mehine M, Kaasinen E, Makinen N, Katainen R, Kampjarvi K, Pitkanen E, Heinonen HR, Butzow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjoberg J, Vahteristo P, Aaltonen LA	Characterization of Uterine Leiomyomas by Whole-Genome Sequencing	N Engl J Med	2013 Jun	2,5,7,22,X	Uterine leiomyoma	Next Generation Sequencing	Homo sapiens	MY23m4	Illumina + Complete Genomics			COL4A5;COL4A6;CUX1	Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland	BACKGROUND: Uterine leiomyomas are benign but affect the health of millions of women. A better understanding of the molecular mechanisms involved may provide clues to the prevention and treatment of these lesions. METHODS: We performed whole-genome sequencing and gene-expression profiling of 38 uterine leiomyomas and the corresponding myometrium from 30 women. RESULTS: Identical variants observed in some separate tumor nodules suggested that these nodules have a common origin. Complex chromosomal rearrangements resembling chromothripsis were a common feature of leiomyomas. These rearrangements are best explained by a single event of multiple chromosomal breaks and random reassembly. The rearrangements created tissue-specific changes consistent with a role in the initiation of leiomyoma, such as translocations of the HMGA2 and RAD51B loci and aberrations at the COL4A5-COL4A6 locus, and occurred in the presence of normal TP53 alleles. In some cases, separate events had occurred more than once in single tumor-cell lineages. CONCLUSIONS: Chromosome shattering and reassembly resembling chromothripsis (a single genomic event that results in focal losses and rearrangements in multiple genomic regions) is a major cause of chromosomal abnormalities in uterine leiomyomas; we propose that tumorigenesis occurs when tissue-specific tumor-promoting changes are formed through these events. Chromothripsis has previously been associated with aggressive cancer; its common occurrence in leiomyomas suggests that it also has a role in the genesis and progression of benign tumors. We observed that multiple separate tumors could be seeded from a single lineage of uterine leiomyoma cells.	GRCh37/hg19			ERP004006	Yes	COL4A5,COL4A6
Research	23738515	Mehine M, Kaasinen E, Makinen N, Katainen R, Kampjarvi K, Pitkanen E, Heinonen HR, Butzow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjoberg J, Vahteristo P, Aaltonen LA	Characterization of Uterine Leiomyomas by Whole-Genome Sequencing	N Engl J Med	2013 Jun	1,4,22	Uterine leiomyoma	Next Generation Sequencing	Homo sapiens	MY46m1	Illumina + Complete Genomics				Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland	BACKGROUND: Uterine leiomyomas are benign but affect the health of millions of women. A better understanding of the molecular mechanisms involved may provide clues to the prevention and treatment of these lesions. METHODS: We performed whole-genome sequencing and gene-expression profiling of 38 uterine leiomyomas and the corresponding myometrium from 30 women. RESULTS: Identical variants observed in some separate tumor nodules suggested that these nodules have a common origin. Complex chromosomal rearrangements resembling chromothripsis were a common feature of leiomyomas. These rearrangements are best explained by a single event of multiple chromosomal breaks and random reassembly. The rearrangements created tissue-specific changes consistent with a role in the initiation of leiomyoma, such as translocations of the HMGA2 and RAD51B loci and aberrations at the COL4A5-COL4A6 locus, and occurred in the presence of normal TP53 alleles. In some cases, separate events had occurred more than once in single tumor-cell lineages. CONCLUSIONS: Chromosome shattering and reassembly resembling chromothripsis (a single genomic event that results in focal losses and rearrangements in multiple genomic regions) is a major cause of chromosomal abnormalities in uterine leiomyomas; we propose that tumorigenesis occurs when tissue-specific tumor-promoting changes are formed through these events. Chromothripsis has previously been associated with aggressive cancer; its common occurrence in leiomyomas suggests that it also has a role in the genesis and progression of benign tumors. We observed that multiple separate tumors could be seeded from a single lineage of uterine leiomyoma cells.	GRCh37/hg19			ERP004006	Yes	NA
Research	23738515	Mehine M, Kaasinen E, Makinen N, Katainen R, Kampjarvi K, Pitkanen E, Heinonen HR, Butzow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjoberg J, Vahteristo P, Aaltonen LA	Characterization of Uterine Leiomyomas by Whole-Genome Sequencing	N Engl J Med	2013 Jun	1,2,11,15,X	Uterine leiomyoma	Next Generation Sequencing	Homo sapiens	MY47m1	Illumina + Complete Genomics	chr1:215048026-223440603:1;chr1:31282315-44432520:1;chr22:42110013-42176601:-1;chr2:38218515-61540231:-1	hs1:19539160-19539160,hs2:217077076-217077076;hs1:31299824-31299824,hs11:118397268-118397268;hs1:32820625-32820625,hs11:114620180-114620180;hs1:33506263-33506263,hs1:44820517-44820517;hs1:33506872-33506872,hs1:220044420-220044420;hs1:52870556-52870556,hs6:151805925-151805925;hs1:52871037-52871037,hs11:12381161-12381161;hs1:67456934-67456934,hs11:17806872-17806872;hs1:93896730-93896730,hs1:97107552-97107552;hs1:97064269-97064269,hs6:161230570-161230570;hs1:97107169-97107169,hs5:6689935-6689935;hs1:100368634-100368634,hs15:86207345-86207345;hs1:100454228-100454228,hs2:63807137-63807137;hs1:114474067-114474067,hs2:12647369-12647369;hs1:145455240-145455240,hs1:156695207-156695207;hs1:145455307-145455307,hs1:150516696-150516696;hs1:145498335-145498335,hs1:168054990-168054990;hs1:145498420-145498420,hs1:150516666-150516666;hs1:145575509-145575509,hs1:156655269-156655269;hs1:145576476-145576476,hs1:156655352-156655352;hs1:150516666-150516666,hs1:150516747-150516747;hs1:151386388-151386388,hs22:42066919-42066919;hs1:220309075-220309075,hs2:61486886-61486886;hs2:3404675-3404675,hs2:62048799-62048799;hs2:5620094-5620094,hs2:62048871-62048871;hs2:5620209-5620209,hs2:5644328-5644328;hs2:5644274-5644274,hs2:28618421-28618421;hs2:12648413-12648413,hs2:15596270-15596270;hs2:17878699-17878699,hs2:61545621-61545621;hs2:17878813-17878813,hs2:64344610-64344610;hs2:28461740-28461740,hs15:86388593-86388593;hs2:28462611-28462611,hs15:86388847-86388847;hs2:28478069-28478069,hs11:118397907-118397907;hs2:61368528-61368528,hs2:61487406-61487406;hs2:61538447-61538447,hs2:64344463-64344463;hs2:61546020-61546020,hs2:63808163-63808163;hs2:217077076-217077076,hs11:65061312-65061312;hs2:217077154-217077154,hs15:57223400-57223400;hs6:137661579-137661579,hs22:19144224-19144224;hs6:161146302-161146302,hs6:161150567-161150567;hs8:75087899-75087899,hs8:75095377-75095377;hs11:1570862-1570862,hs11:1591488-1591488;hs11:12396199-12396199,hs11:65061640-65061640;hs11:17807056-17807056,hs11:28105191-28105191;hs11:17836821-17836821,hs11:28280080-28280080;hs11:18046070-18046070,hs11:28165047-28165047;hs11:18058151-18058151,hs11:18099512-18099512;hs11:18058423-18058423,hs11:28369161-28369161;hs11:18101635-18101635,hs11:20655414-20655414;hs11:18168973-18168973,hs11:28164502-28164502;hs11:18169076-18169076,hs11:28650047-28650047;hs11:69240671-69240671,hs15:86472754-86472754;hs11:85367580-85367580,hs11:85368252-85368252;hs11:85367591-85367591,hs11:85367851-85367851;hs11:113178251-113178251,hs15:86471229-86471229;hs21:46222881-46222881,hs22:24203554-24203554;hs22:43084148-43084148,hs22:43087160-43087160;hsX:10879936-10879936,hsX:107677238-107677238;hsX:10880027-10880027,hsX:107743206-107743206;hsX:10944804-10944804,hsX:107743234-107743234;hsX:10944950-10944950,hsX:107726147-107726147	COL4A5;COL4A6;CCND1	Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland	BACKGROUND: Uterine leiomyomas are benign but affect the health of millions of women. A better understanding of the molecular mechanisms involved may provide clues to the prevention and treatment of these lesions. METHODS: We performed whole-genome sequencing and gene-expression profiling of 38 uterine leiomyomas and the corresponding myometrium from 30 women. RESULTS: Identical variants observed in some separate tumor nodules suggested that these nodules have a common origin. Complex chromosomal rearrangements resembling chromothripsis were a common feature of leiomyomas. These rearrangements are best explained by a single event of multiple chromosomal breaks and random reassembly. The rearrangements created tissue-specific changes consistent with a role in the initiation of leiomyoma, such as translocations of the HMGA2 and RAD51B loci and aberrations at the COL4A5-COL4A6 locus, and occurred in the presence of normal TP53 alleles. In some cases, separate events had occurred more than once in single tumor-cell lineages. CONCLUSIONS: Chromosome shattering and reassembly resembling chromothripsis (a single genomic event that results in focal losses and rearrangements in multiple genomic regions) is a major cause of chromosomal abnormalities in uterine leiomyomas; we propose that tumorigenesis occurs when tissue-specific tumor-promoting changes are formed through these events. Chromothripsis has previously been associated with aggressive cancer; its common occurrence in leiomyomas suggests that it also has a role in the genesis and progression of benign tumors. We observed that multiple separate tumors could be seeded from a single lineage of uterine leiomyoma cells.	GRCh37/hg19			ERP004006	Yes	COL4A5,COL4A6
Research	23738515	Mehine M, Kaasinen E, Makinen N, Katainen R, Kampjarvi K, Pitkanen E, Heinonen HR, Butzow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjoberg J, Vahteristo P, Aaltonen LA	Characterization of Uterine Leiomyomas by Whole-Genome Sequencing	N Engl J Med	2013 Jun	6,8,12,14	Uterine leiomyoma	Next Generation Sequencing	Homo sapiens	MY64m1	Illumina + Complete Genomics		hs1:15735163-15735163,hs3:194489954-194489954;hs1:194721032-194721032,hs1:196290033-196290033;hs1:215599195-215599195,hs1:215599663-215599663;hs3:33644813-33644813,hs19:12274466-12274466;hs3:49074459-49074459,hs10:80831180-80831180;hs3:52745459-52745459,hs22:39922071-39922071;hs3:180156793-180156793,hs3:180157535-180157535;hs3:194490234-194490234,hs3:194493153-194493153;hs4:6584525-6584525,hs4:34998329-34998329;hs6:1943008-1943008,hs6:2489341-2489341;hs6:11156592-11156592,hs7:84183676-84183676;hs6:31058593-31058593,hs6:31059135-31059135;hs6:53137916-53137916,hs6:53201720-53201720;hs6:53145310-53145310,hs6:53203374-53203374;hs6:66868428-66868428,hs6:66870032-66870032;hs6:70162245-70162245,hs6:99829857-99829857;hs6:70175391-70175391,hs6:99787202-99787202;hs6:76745802-76745802,hs6:76746261-76746261;hs6:81852454-81852454,hs6:128469968-128469968;hs6:88875408-88875408,hs12:25545729-25545729;hs6:109995770-109995770,hs6:109996343-109996343;hs6:112035549-112035549,hs6:113078054-113078054;hs6:112036919-112036919,hs6:113841690-113841690;hs6:112419542-112419542,hs6:114208063-114208063;hs6:131747203-131747203,hs6:131794379-131794379;hs7:83853697-83853697,hs7:83854456-83854456;hs7:112249350-112249350,hs7:113118707-113118707;hs7:112249511-112249511,hs7:113124180-113124180;hs7:113923991-113923991,hs7:113924617-113924617;hs7:117113777-117113777,hs7:117114825-117114825;hs7:122019607-122019607,hs7:122019982-122019982;hs7:136616071-136616071,hs7:136658639-136658639;hs7:148391040-148391040,hs7:148550062-148550062;hs8:93147079-93147079,hs8:94323704-94323704;hs8:93534914-93534914,hs6:88875071-88875071;hs8:93535474-93535474,hs12:92634896-92634896;hs8:93978876-93978876,hs14:89023605-89023605;hs11:24998979-24998979,hs11:25993614-25993614;hs12:25545779-25545779,hs12:48018996-48018996;hs12:65562575-65562575,hs8:93149069-93149069;hs12:66627402-66627402,hs12:66653581-66653581;hs12:92419990-92419990,hs12:92420090-92420090;hs12:92634041-92634041,hs14:93599917-93599917;hs14:68772909-68772909,hs12:65992890-65992890;hs14:68921193-68921193,hs12:67255815-67255815;hs14:97338363-97338363,hs14:97338802-97338802;hsX:83913042-83913042,hsX:98148639-98148639	RAD51B;HMGA2;CUL1;EZH2	Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland	BACKGROUND: Uterine leiomyomas are benign but affect the health of millions of women. A better understanding of the molecular mechanisms involved may provide clues to the prevention and treatment of these lesions. METHODS: We performed whole-genome sequencing and gene-expression profiling of 38 uterine leiomyomas and the corresponding myometrium from 30 women. RESULTS: Identical variants observed in some separate tumor nodules suggested that these nodules have a common origin. Complex chromosomal rearrangements resembling chromothripsis were a common feature of leiomyomas. These rearrangements are best explained by a single event of multiple chromosomal breaks and random reassembly. The rearrangements created tissue-specific changes consistent with a role in the initiation of leiomyoma, such as translocations of the HMGA2 and RAD51B loci and aberrations at the COL4A5-COL4A6 locus, and occurred in the presence of normal TP53 alleles. In some cases, separate events had occurred more than once in single tumor-cell lineages. CONCLUSIONS: Chromosome shattering and reassembly resembling chromothripsis (a single genomic event that results in focal losses and rearrangements in multiple genomic regions) is a major cause of chromosomal abnormalities in uterine leiomyomas; we propose that tumorigenesis occurs when tissue-specific tumor-promoting changes are formed through these events. Chromothripsis has previously been associated with aggressive cancer; its common occurrence in leiomyomas suggests that it also has a role in the genesis and progression of benign tumors. We observed that multiple separate tumors could be seeded from a single lineage of uterine leiomyoma cells.	GRCh37/hg19			ERP004006	Yes	NA
Research	23738515	Mehine M, Kaasinen E, Makinen N, Katainen R, Kampjarvi K, Pitkanen E, Heinonen HR, Butzow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjoberg J, Vahteristo P, Aaltonen LA	Characterization of Uterine Leiomyomas by Whole-Genome Sequencing	N Engl J Med	2013 Jun	1,5,14	Uterine leiomyoma	Next Generation Sequencing	Homo sapiens	MY18m3	Illumina + Complete Genomics	chr14:63744555-68216937:-1;chr19:27681783-141213431:-1;chr1:882685-29447281:-1;chr4:1-49660117:-1;chr5:149752077-158199892:-1	hs1:882685-882685,hs1:31085347-31085347;hs1:29447281-29447281,hs20:34130261-34130261;hs1:31085225-31085225,hs2:27270624-27270624;hs1:87129957-87129957,hs1:87131702-87131702;hs5:98538029-98538029,hs5:98780516-98780516;hs5:98774085-98774085,hs5:100605647-100605647;hs5:98780238-98780238,hs5:99577432-99577432;hs5:100534516-100534516,hs5:149570825-149570825;hs5:100607932-100607932,hs5:158551243-158551243;hs5:100611427-100611427,hs5:158199892-158199892;hs5:100881397-100881397,hs5:100882761-100882761;hs5:107392713-107392713,hs5:149752077-149752077;hs8:29056894-29056894,hs8:29049690-29049690;hs12:66200468-66200468,hs14:69025073-69025073;hs12:66336514-66336514,hs12:66336991-66336991;hs12:121190353-121190353,hs12:121190839-121190839;hs14:19162878-19162878,hs14:69524710-69524710;hs14:24720540-24720540,hs14:75769241-75769241;hs14:39424193-39424193,hs14:63744555-63744555;hs14:43740449-43740449,hs14:69021171-69021171;hs14:69020643-69020643,hs12:66201378-66201378;hs14:69025181-69025181,hs14:92959674-92959674;hs14:69524711-69524711,hs14:68216937-68216937;hs14:69624170-69624170,hs14:93149131-93149131;hs14:69624603-69624603,hs14:93160067-93160067;hs14:92957591-92957591,hs14:24720863-24720863;hs20:34130689-34130689,hs2:27316575-27316575	RAD51B;HMGA2	Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland	BACKGROUND: Uterine leiomyomas are benign but affect the health of millions of women. A better understanding of the molecular mechanisms involved may provide clues to the prevention and treatment of these lesions. METHODS: We performed whole-genome sequencing and gene-expression profiling of 38 uterine leiomyomas and the corresponding myometrium from 30 women. RESULTS: Identical variants observed in some separate tumor nodules suggested that these nodules have a common origin. Complex chromosomal rearrangements resembling chromothripsis were a common feature of leiomyomas. These rearrangements are best explained by a single event of multiple chromosomal breaks and random reassembly. The rearrangements created tissue-specific changes consistent with a role in the initiation of leiomyoma, such as translocations of the HMGA2 and RAD51B loci and aberrations at the COL4A5-COL4A6 locus, and occurred in the presence of normal TP53 alleles. In some cases, separate events had occurred more than once in single tumor-cell lineages. CONCLUSIONS: Chromosome shattering and reassembly resembling chromothripsis (a single genomic event that results in focal losses and rearrangements in multiple genomic regions) is a major cause of chromosomal abnormalities in uterine leiomyomas; we propose that tumorigenesis occurs when tissue-specific tumor-promoting changes are formed through these events. Chromothripsis has previously been associated with aggressive cancer; its common occurrence in leiomyomas suggests that it also has a role in the genesis and progression of benign tumors. We observed that multiple separate tumors could be seeded from a single lineage of uterine leiomyoma cells.	GRCh37/hg19			ERP004006	Yes	RAD51B,HMGA2