Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.

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...

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Autores principales:	Louise J Barber, Juan M Rosa Rosa, Iwanka Kozarewa, Kerry Fenwick, Ioannis Assiotis, Costas Mitsopoulos, David Sims, Jarle Hakas, Marketa Zvelebil, Christopher J Lord, Alan Ashworth
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2011
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/41dfd1b52c244a2daed0cc7c2c59e448
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spelling	oai:doaj.org-article:41dfd1b52c244a2daed0cc7c2c59e4482021-11-18T06:50:45ZComprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.1932-620310.1371/journal.pone.0021639https://doaj.org/article/41dfd1b52c244a2daed0cc7c2c59e4482011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21750719/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Capan-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.Louise J BarberJuan M Rosa RosaIwanka KozarewaKerry FenwickIoannis AssiotisCostas MitsopoulosDavid SimsJarle HakasMarketa ZvelebilChristopher J LordAlan AshworthPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 7, p e21639 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Louise J Barber Juan M Rosa Rosa Iwanka Kozarewa Kerry Fenwick Ioannis Assiotis Costas Mitsopoulos David Sims Jarle Hakas Marketa Zvelebil Christopher J Lord Alan Ashworth Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.
description	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.
format	article
author	Louise J Barber Juan M Rosa Rosa Iwanka Kozarewa Kerry Fenwick Ioannis Assiotis Costas Mitsopoulos David Sims Jarle Hakas Marketa Zvelebil Christopher J Lord Alan Ashworth
author_facet	Louise J Barber Juan M Rosa Rosa Iwanka Kozarewa Kerry Fenwick Ioannis Assiotis Costas Mitsopoulos David Sims Jarle Hakas Marketa Zvelebil Christopher J Lord Alan Ashworth
author_sort	Louise J Barber
title	Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.
title_short	Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.
title_full	Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.
title_fullStr	Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.
title_full_unstemmed	Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.
title_sort	comprehensive genomic analysis of a brca2 deficient human pancreatic cancer.
publisher	Public Library of Science (PLoS)
publishDate	2011
url	https://doaj.org/article/41dfd1b52c244a2daed0cc7c2c59e448
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Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.

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