Study

Genomic profiling of Acute Lymphoblastic Leukemia in Ataxia Telangiectasia patients reveals tight link between ATM mutations and chromothripsis

Study ID Alternative Stable ID Type
EGAS00001002270 Other

Study Description

Recent developments in sequencing technologies led to the discovery of a novel form of genomic instability, termed chromothripsis. This catastrophic genomic event, involved in tumorigenesis, is characterized by tens to hundreds of simultaneously acquired locally clustered rearrangements on one chromosome. We hypothesized that leukemias developing in individuals with Ataxia Telangiectasia, who are born with two mutated copies of the ATM gene, an essential guardian of genome stability, would show a higher prevalence of chromothripsis due to the associated defect in DNA double-strand break repair. Using whole-genome sequencing, fluorescence in situ hybridization and RNA sequencing, we characterized the genomic landscape of Acute Lymphoblastic Leukemia (ALL) arising in patients with Ataxia Telangiectasia. We detected a high frequency of chromothriptic events in these tumors, specifically on acrocentric chromosomes, as compared to tumors from individuals with other types of DNA repair syndromes (27 cases total, 10 with Ataxia Telangiectasia). Our data suggest that the genomic landscape ... (Show More)

Study Datasets 7 datasets.

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
EGAD00001003429
RNA analysis of two patients 11 and 15 with WGS done on Illumina HiSeq2000. For research purpose and authorised user only.
Illumina HiSeq 2000 2
EGAD00001003430
RNA analysis of six patients 34, 35, 36, 37, 38 and 39 with WGS done on Illumina HiSeq2500. For research purpose and authorised user only.
Illumina HiSeq 2500 6
EGAD00001003436
Seven files of patients 3, 21, 29, 30, 31, 32 and 33 with WGS done on Illumina MiSeq with high coverage. For research purpose and authorised user only.
Illumina MiSeq 7
EGAD00001003437
Fourteen files of patients 1, 2, 4, 6, 7, 8, 9, 12, 14, 16, 17, 18, 19 and 27 with WGS done on Illumina MiSeq with low coverage. For research purpose and authorised user only.
Illumina MiSeq 14
EGAD00001003438
Three files of patients 20, 23 and 25 with WGS done on Illumina HiSeq 2000. For research purpose and authorised user only.
Illumina HiSeq 2000 3
EGAD00001003439
Three files of patients 10, 11 and 13 with WGS done on Illumina HiSeq X Ten. For research purpose and authorised user only.
HiSeq X Ten 3
EGAD00001003440
One file of patient 16 with WGS done on Illumina HiSeq X-Ten. For research purpose and authorised user only.
HiSeq X Ten 1

Who archives the data?

There are no publications available