Comprehensive Genomic and Transcriptomic Analysis of Rare Cancers for Guiding of Therapy (H021)

Here we analyzed the molecular profiles and clinical outcomes of 1,310 patients (proportion of rare cancers, 75%) enrolled in a prospective observational study by the German Cancer Consortium that applies whole-genome/exome and RNA sequencing to inform the care of adults with incurable cancers. Based on 472 single and six composite biomarkers, a cross-institutional molecular tumor board provided evidence-based management recommendations, including diagnostic reevaluation, genetic counseling, and experimental treatment, in 88% of cases. Recommended therapies were administered in 362 of 1,138 patients (31.8%) and resulted in significantly improved response and disease control rates (23.9% and 55.3%, respectively) compared to previous therapies, translating into a progression-free survival ratio >1.3 in 35.7% of patients.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

70 Datasets 3 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001008844	Rare cancer sequencing data of 23 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	16
EGAD00001008845	Rare cancer sequencing data of 28 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	22
EGAD00001008846	Rare cancer sequencing data of 45 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	26
EGAD00001008847	Rare cancer sequencing data of 95 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	64
EGAD00001008848	Rare cancer sequencing data of 55 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	44
EGAD00001008849	Rare cancer sequencing data of 87 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	58
EGAD00001008850	Rare cancer sequencing data of 59 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	38
EGAD00001008851	Rare cancer sequencing data of 75 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	49
EGAD00001008852	Rare cancer sequencing data of 50 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	34
EGAD00001008853	Rare cancer sequencing data of 44 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	30
EGAD00001008854	Rare cancer sequencing data of 40 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	26
EGAD00001008855	Rare cancer sequencing data of 97 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	61
EGAD00001008856	Rare cancer sequencing data of 48 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	33
EGAD00001008857	Rare cancer sequencing data of 58 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	40
EGAD00001008858	Rare cancer sequencing data of 49 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	35
EGAD00001008859	Rare cancer sequencing data of 243 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	164
EGAD00001008860	Rare cancer sequencing data of 47 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	41
EGAD00001008861	Rare cancer sequencing data of 92 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	62
EGAD00001008862	Rare cancer sequencing data of 145 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	104
EGAD00001008863	Rare cancer sequencing data of 119 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 2500 Illumina HiSeq 4000	76
EGAD00001008865	Rare cancer sequencing data of 87 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2500 Illumina HiSeq 4000	87
EGAD00001008866	Rare cancer sequencing data of 48 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	48
EGAD00001008867	Rare cancer sequencing data of 12 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	12
EGAD00001008868	Rare cancer sequencing data of 94 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	91
EGAD00001008869	Rare cancer sequencing data of 46 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	46
EGAD00001008870	Rare cancer sequencing data of 62 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	59
EGAD00001008871	Rare cancer sequencing data of 119 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	117
EGAD00001008872	Rare cancer sequencing data of 54 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	52
EGAD00001008873	Rare cancer sequencing data of 30 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2500 Illumina HiSeq 4000	30
EGAD00001008874	Rare cancer sequencing data of 18 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	18
EGAD00001008875	Rare cancer sequencing data of 64 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2500 Illumina HiSeq 4000	61
EGAD00001008876	Rare cancer sequencing data of 18 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	12
EGAD00001008877	Rare cancer sequencing data of 55 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	55
EGAD00001008878	Rare cancer sequencing data of 38 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	31
EGAD00001008879	Rare cancer sequencing data of 56 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	54
EGAD00001008880	Rare cancer sequencing data of 86 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2500 Illumina HiSeq 4000	83
EGAD00001008881	Rare cancer sequencing data of 49 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	44
EGAD00001008882	Rare cancer sequencing data of 91 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	78
EGAD00001008883	Rare cancer sequencing data of 162 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2500 Illumina HiSeq 4000	149
EGAD00001008884	Rare cancer sequencing data of 83 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	71
EGAD00001008885	Rare cancer sequencing data of 96 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	89
EGAD00001008886	Rare cancer sequencing data of 29 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	28
EGAD00001008887	Rare cancer sequencing data of 66 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	58
EGAD00001008888	Rare cancer sequencing data of 48 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	41
EGAD00001008889	Rare cancer sequencing data of 22 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	17
EGAD00001008890	Rare cancer sequencing data of 76 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	72
EGAD00001008891	Rare cancer sequencing data of 164 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	159
EGAD00001008892	Rare cancer sequencing data of 42 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	42
EGAD00001008893	Rare cancer sequencing data of 112 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	100
EGAD00001008894	Rare cancer sequencing data of 34 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	28
EGAD00001008895	Rare cancer sequencing data of 49 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	43
EGAD00001008896	Rare cancer sequencing data of 137 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	138
EGAD00001008897	Rare cancer sequencing data of 246 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	250
EGAD00001008898	Rare cancer sequencing data of 34 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2500 Illumina HiSeq 4000	34
EGAD00001008899	Rare cancer sequencing data of 6 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	6
EGAD00001008900	Rare cancer sequencing data of 142 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	134
EGAD00001008901	Rare cancer sequencing data of 28 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 4000	24
EGAD00001008902	Rare cancer sequencing data of 85 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	77
EGAD00001008903	Rare cancer sequencing data of 36 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	34
EGAD00001008904	Rare cancer sequencing data of 112 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	106
EGAD00001008905	RNA-Seq, WES and WGS data of 5 rare tumor/control pairs which were submitted to other HIPO projects, not MASTER. The sequencing was always paired.	HiSeq X Ten Illumina HiSeq 2000	11
EGAD00001008906	Part of the published data from EGAS00001004662 resulted in the publication of this study EGAS00001004813	HiSeq X Ten	5
EGAD00001009273	WES/WGS sequencing data of 86 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	86
EGAD00001009274	WES/WGS sequencing data of 337 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten Illumina HiSeq 4000	319
EGAD00001009277	WES/WGS sequencing data of 44 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	40
EGAD00001009278	WES/WGS sequencing data of 242 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired	Illumina HiSeq 2500 Illumina HiSeq 4000	242
EGAD00001009279	WES/WGS sequencing data of 239 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired	HiSeq X Ten	218
EGAD00001010257	Sequencing data of 77 sarcoma tumor and control runs, which were uploaded to EGAS00001004813. The sequencing was always paired.	HiSeq X Ten	1
EGAD00001010258	Sequencing data of 144 sarcoma tumor and control runs, which were uploaded to EGAS00001004813. The sequencing was always paired.	Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	1
EGAD00001010276	Sequencing data of 410 sarcoma tumor runs, which were uploaded to EGAS00001004813. The sequencing was always paired.	HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina HiSeq 4000	1

Publications	Citations
MGMT inactivation as a new biomarker in patients with advanced biliary tract cancers. Niger M, Nichetti F, Casadei-Gardini A, Morano F, Pircher C, Tamborini E, Perrone F, Canale M, Lipka DB, Vingiani A, Agnelli L, Dobberkau A, Hüllein J, Korell F, Heilig CE, Pusceddu S, Corti F, Droz M, Ulivi P, Prisciandaro M, Antista M, Bini M, Cattaneo L, Milione M, Glimm H, Köhler BC, Pruneri G, Hübschmann D, Fröhling S, Mazzaferro V, Pietrantonio F, Di Bartolomeo M, de Braud F. Mol Oncol 16: 2022 2733-2746	1
Transcriptomic Deconvolution of Neuroendocrine Neoplasms Predicts Clinically Relevant Characteristics. Otto R, Detjen KM, Riemer P, Fattohi M, Grötzinger C, Rindi G, Wiedenmann B, Sers C, Leser U. Cancers (Basel) 15: 2023 936	0
Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions. Schöpf J, Uhrig S, Heilig CE, Lee KS, Walther T, Carazzato A, Dobberkau AM, Weichenhan D, Plass C, Hartmann M, Diwan GD, Carrero ZI, Ball CR, Hohl T, Kindler T, Rudolph-Hähnel P, Helm D, Schneider M, Nilsson A, Øra I, Imle R, Banito A, Russell RB, Jones BC, Lipka DB, Glimm H, Hübschmann D, Hartmann W, Fröhling S, Scholl C. Nat Commun 15: 2024 51	2