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PLoS One. 2011;6(7):e21639. doi: 10.1371/journal.pone.0021639. Epub 2011 Jul 5.

Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.

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  • 1Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, United Kingdom.

Abstract

Capan-1 is a well-characterised BRCA2-deficient human cell line isolated from a liver metastasis of a pancreatic adenocarcinoma. Here we report a genome-wide assessment of structural variations and high-depth exome characterization of single nucleotide variants and small insertion/deletions in Capan-1. To identify potential somatic and tumour-associated variations in the absence of a matched-normal cell line, we devised a novel method based on the analysis of HapMap samples. We demonstrate that Capan-1 has one of the most rearranged genomes sequenced to date. Furthermore, small insertions and deletions are detected more frequently in the context of short sequence repeats than in other genomes. We also identify a number of novel mutations that may represent genetic changes that have contributed to tumour progression. These data provide insight into the genomic effects of loss of BRCA2 function.

PMID:
21750719
PMCID:
PMC3130048
DOI:
10.1371/journal.pone.0021639
[PubMed - indexed for MEDLINE]
Free PMC Article
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