Reference Overview - PMID21750719

Overview

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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
PUBMED:21750719
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
Genes Analysed
657
Mutations
522

Mutations

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Genes Samples CDS Mutation AA Mutation

Non-Mutant Genes

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Non-Mutant Genes Gene Id (COSG)

Non-Mutant Samples

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Non-Mutant Samples Sample Id (COSS)

Mutated Samples

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Sample Name Mutation Count

Non-Coding mutation

This tab shows non coding variant in the selected study/paper [more details]
Sample ID Sample Name ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq