GRCh38 · COSMIC v92

Summary

This section shows a summary for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.

Reference
Comprehensive Genomic Analysis of a BRCA2 Deficient Human Pancreatic Cancer.
Paper ID
COSP26627
Authors
Barber LJ, Rosa Rosa JM, Kozarewa I, Fenwick K, Assiotis I, Mitsopoulos C, Sims D, Hakas J, Zvelebil M, Lord CJ and Ashworth A
Affiliation
Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, United Kingdom.
Journal
PloS one, 2011;6(7):e21639
ISSN: 1932-6203
PMID: 21750719 (view at PubMed or Europe PMC)
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.
Paper Status
Curated