Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.

ABSTRACT:

Background

Structural rearrangements form a major class of somatic variation in cancer genomes. Local chromosome shattering, termed chromothripsis, is a mechanism proposed to be the cause of clustered chromosomal rearrangements and was recently described to occur in a small percentage of tumors. The significance of these clusters for tumor development or metastatic spread is largely unclear.

Results

We used genome-wide long mate-pair sequencing and SNP array profiling to reveal that chromothripsis is a widespread phenomenon in primary colorectal cancer and metastases. We find large and small chromothripsis events in nearly every colorectal tumor sample and show that several breakpoints of chromothripsis clusters and isolated rearrangements affect cancer genes, including NOTC

SUBMITTER: Kloosterman WP 

PROVIDER: S-EPMC3333773 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature