Mapping chromosome amplifications using massively parallel paired-end sequencing

Abstract

Chromosome rearrangements have been shown to play an important role in cancer development. A rearrangement commonly found in breast cancer is amplification of the 8p11-12 and 11q13 regions, which are frequently co-amplified and can form complex intermingled structures that are difficult to resolve using conventional cytogenetics. High-throughput paired-end sequencing was used to generate large numbers of short sequence reads from a library of genomic fragments generated from the breast cancer cell line MDA-MB-134, which has a complex 8–11 amplification.