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...

Full description

Saved in:
Bibliographic Details
Published in:PloS one 2011-07, Vol.6 (7), p.e21639-e21639
Main Authors: Barber, Louise J, Rosa Rosa, Juan M, Kozarewa, Iwanka, Fenwick, Kerry, Assiotis, Ioannis, Mitsopoulos, Costas, Sims, David, Hakas, Jarle, Zvelebil, Marketa, Lord, Christopher J, Ashworth, Alan
Format: Article
Language:English
Subjects:
Adenocarcinoma
Adenocarcinoma - genetics
Adenocarcinoma - pathology
Analysis
Biology
BRCA2 protein
BRCA2 Protein - deficiency
BRCA2 Protein - genetics
Breast cancer
Cancer genetics
Cancer therapies
Cell Line, Tumor
Cells (Biology)
Chromosome Mapping
Comparative Genomic Hybridization
Deoxyribonucleic acid
DNA
DNA repair
Evolution & development
Genetic aspects
Genome, Human - genetics
Genomes
Genomic analysis
Genomics
Genomics - methods
Humans
Insertion
Liver
Medical research
Medicine
Metastases
Metastasis
Minority & ethnic groups
Mutation
Pancreatic cancer
Pancreatic Neoplasms - genetics
Pancreatic Neoplasms - pathology
Proteins
Sequence Analysis, DNA - methods
Tumors
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by cdi_FETCH-LOGICAL-c691t-2bc81f2ce61b620f43123d88482e44df75d70b3337db3d59c0716507da60993b3
cites cdi_FETCH-LOGICAL-c691t-2bc81f2ce61b620f43123d88482e44df75d70b3337db3d59c0716507da60993b3
container_end_page e21639
container_issue 7
container_start_page e21639
container_title PloS one
container_volume 6
creator Barber, Louise J
Rosa Rosa, Juan M
Kozarewa, Iwanka
Fenwick, Kerry
Assiotis, Ioannis
Mitsopoulos, Costas
Sims, David
Hakas, Jarle
Zvelebil, Marketa
Lord, Christopher J
Ashworth, Alan
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.
doi_str_mv 10.1371/journal.pone.0021639
format article
fullrecord <record><control><sourceid>gale_plos_</sourceid><recordid>TN_cdi_plos_journals_1305134755</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A476886401</galeid><doaj_id>oai_doaj_org_article_41dfd1b52c244a2daed0cc7c2c59e448</doaj_id><sourcerecordid>A476886401</sourcerecordid><originalsourceid>FETCH-LOGICAL-c691t-2bc81f2ce61b620f43123d88482e44df75d70b3337db3d59c0716507da60993b3</originalsourceid><addsrcrecordid>eNqNkl1r2zAUhs3YWLtu_2BshsHGLpLpy5J9M8jCPsIKhe7jVsiSnCjYUirZZf33O2ncEo9eDF1ISM959erozbKXGM0xFfjDNgzRq3a-C97OESKY0-pRdoorSmacIPr4aH2SPUtpi1BBS86fZicEiwIJXJ1m35eh20W7sT65a5uvrQ-d07kC5ZvkUh6aXOWfLpcLkhvbOO2s7_PN0Cmf75TX0aoecA1LG59nTxrVJvtinM-yX18-_1x-m51ffF0tF-czzSvcz0itS9wQbTmuwVzDKCbUlCUriWXMNKIwAtWUUmFqaopKg1MOdo3iqKpoTc-y1wfdXRuSHPuQJKaowJSJogBidSBMUFu5i65T8UYG5eTtRohrqSIYb61k2DQG1wXRhDFFjLIGaS000UUFdkrQ-jjeNtSdNRoaEFU7EZ2eeLeR63AtKRhCtwLvRoEYrgabetm5pG3bKm_DkGQpuKgqUjIg3_xDPvy4kVor8O98E-BavdeUCyZ4WXKGMFDzBygYxsIHQ2YaB_uTgveTAmB6-6dfqyElufpx-f_sxe8p-_aI3VjV9psU2qF3wacpyA6gjiGlaJv7HmMk95G_64bcR16OkYeyV8f_c190l3H6F0ba-gE</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1305134755</pqid></control><display><type>article</type><title>Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer</title><source>Publicly Available Content Database</source><source>PubMed Central</source><creator>Barber, Louise J ; Rosa Rosa, Juan M ; Kozarewa, Iwanka ; Fenwick, Kerry ; Assiotis, Ioannis ; Mitsopoulos, Costas ; Sims, David ; Hakas, Jarle ; Zvelebil, Marketa ; Lord, Christopher J ; Ashworth, Alan</creator><contributor>Oshima, Robert</contributor><creatorcontrib>Barber, Louise J ; Rosa Rosa, Juan M ; Kozarewa, Iwanka ; Fenwick, Kerry ; Assiotis, Ioannis ; Mitsopoulos, Costas ; Sims, David ; Hakas, Jarle ; Zvelebil, Marketa ; Lord, Christopher J ; Ashworth, Alan ; Oshima, Robert</creatorcontrib><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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0021639</identifier><identifier>PMID: 21750719</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adenocarcinoma ; Adenocarcinoma - genetics ; Adenocarcinoma - pathology ; Analysis ; Biology ; BRCA2 protein ; BRCA2 Protein - deficiency ; BRCA2 Protein - genetics ; Breast cancer ; Cancer genetics ; Cancer therapies ; Cell Line, Tumor ; Cells (Biology) ; Chromosome Mapping ; Comparative Genomic Hybridization ; Deoxyribonucleic acid ; DNA ; DNA repair ; Evolution &amp; development ; Genetic aspects ; Genome, Human - genetics ; Genomes ; Genomic analysis ; Genomics ; Genomics - methods ; Humans ; Insertion ; Liver ; Medical research ; Medicine ; Metastases ; Metastasis ; Minority &amp; ethnic groups ; Mutation ; Pancreatic cancer ; Pancreatic Neoplasms - genetics ; Pancreatic Neoplasms - pathology ; Proteins ; Sequence Analysis, DNA - methods ; Tumors</subject><ispartof>PloS one, 2011-07, Vol.6 (7), p.e21639-e21639</ispartof><rights>COPYRIGHT 2011 Public Library of Science</rights><rights>2011 Barber et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Barber et al. 2011</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c691t-2bc81f2ce61b620f43123d88482e44df75d70b3337db3d59c0716507da60993b3</citedby><cites>FETCH-LOGICAL-c691t-2bc81f2ce61b620f43123d88482e44df75d70b3337db3d59c0716507da60993b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/1305134755/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1305134755?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25752,27923,27924,37011,37012,44589,53790,53792,74997</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21750719$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Oshima, Robert</contributor><creatorcontrib>Barber, Louise J</creatorcontrib><creatorcontrib>Rosa Rosa, Juan M</creatorcontrib><creatorcontrib>Kozarewa, Iwanka</creatorcontrib><creatorcontrib>Fenwick, Kerry</creatorcontrib><creatorcontrib>Assiotis, Ioannis</creatorcontrib><creatorcontrib>Mitsopoulos, Costas</creatorcontrib><creatorcontrib>Sims, David</creatorcontrib><creatorcontrib>Hakas, Jarle</creatorcontrib><creatorcontrib>Zvelebil, Marketa</creatorcontrib><creatorcontrib>Lord, Christopher J</creatorcontrib><creatorcontrib>Ashworth, Alan</creatorcontrib><title>Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer</title><title>PloS one</title><addtitle>PLoS One</addtitle><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.</description><subject>Adenocarcinoma</subject><subject>Adenocarcinoma - genetics</subject><subject>Adenocarcinoma - pathology</subject><subject>Analysis</subject><subject>Biology</subject><subject>BRCA2 protein</subject><subject>BRCA2 Protein - deficiency</subject><subject>BRCA2 Protein - genetics</subject><subject>Breast cancer</subject><subject>Cancer genetics</subject><subject>Cancer therapies</subject><subject>Cell Line, Tumor</subject><subject>Cells (Biology)</subject><subject>Chromosome Mapping</subject><subject>Comparative Genomic Hybridization</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA repair</subject><subject>Evolution &amp; development</subject><subject>Genetic aspects</subject><subject>Genome, Human - genetics</subject><subject>Genomes</subject><subject>Genomic analysis</subject><subject>Genomics</subject><subject>Genomics - methods</subject><subject>Humans</subject><subject>Insertion</subject><subject>Liver</subject><subject>Medical research</subject><subject>Medicine</subject><subject>Metastases</subject><subject>Metastasis</subject><subject>Minority &amp; ethnic groups</subject><subject>Mutation</subject><subject>Pancreatic cancer</subject><subject>Pancreatic Neoplasms - genetics</subject><subject>Pancreatic Neoplasms - pathology</subject><subject>Proteins</subject><subject>Sequence Analysis, DNA - methods</subject><subject>Tumors</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNqNkl1r2zAUhs3YWLtu_2BshsHGLpLpy5J9M8jCPsIKhe7jVsiSnCjYUirZZf33O2ncEo9eDF1ISM959erozbKXGM0xFfjDNgzRq3a-C97OESKY0-pRdoorSmacIPr4aH2SPUtpi1BBS86fZicEiwIJXJ1m35eh20W7sT65a5uvrQ-d07kC5ZvkUh6aXOWfLpcLkhvbOO2s7_PN0Cmf75TX0aoecA1LG59nTxrVJvtinM-yX18-_1x-m51ffF0tF-czzSvcz0itS9wQbTmuwVzDKCbUlCUriWXMNKIwAtWUUmFqaopKg1MOdo3iqKpoTc-y1wfdXRuSHPuQJKaowJSJogBidSBMUFu5i65T8UYG5eTtRohrqSIYb61k2DQG1wXRhDFFjLIGaS000UUFdkrQ-jjeNtSdNRoaEFU7EZ2eeLeR63AtKRhCtwLvRoEYrgabetm5pG3bKm_DkGQpuKgqUjIg3_xDPvy4kVor8O98E-BavdeUCyZ4WXKGMFDzBygYxsIHQ2YaB_uTgveTAmB6-6dfqyElufpx-f_sxe8p-_aI3VjV9psU2qF3wacpyA6gjiGlaJv7HmMk95G_64bcR16OkYeyV8f_c190l3H6F0ba-gE</recordid><startdate>20110705</startdate><enddate>20110705</enddate><creator>Barber, Louise J</creator><creator>Rosa Rosa, Juan M</creator><creator>Kozarewa, Iwanka</creator><creator>Fenwick, Kerry</creator><creator>Assiotis, Ioannis</creator><creator>Mitsopoulos, Costas</creator><creator>Sims, David</creator><creator>Hakas, Jarle</creator><creator>Zvelebil, Marketa</creator><creator>Lord, Christopher J</creator><creator>Ashworth, Alan</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20110705</creationdate><title>Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer</title><author>Barber, Louise J ; Rosa Rosa, Juan M ; Kozarewa, Iwanka ; Fenwick, Kerry ; Assiotis, Ioannis ; Mitsopoulos, Costas ; Sims, David ; Hakas, Jarle ; Zvelebil, Marketa ; Lord, Christopher J ; Ashworth, Alan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c691t-2bc81f2ce61b620f43123d88482e44df75d70b3337db3d59c0716507da60993b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adenocarcinoma</topic><topic>Adenocarcinoma - genetics</topic><topic>Adenocarcinoma - pathology</topic><topic>Analysis</topic><topic>Biology</topic><topic>BRCA2 protein</topic><topic>BRCA2 Protein - deficiency</topic><topic>BRCA2 Protein - genetics</topic><topic>Breast cancer</topic><topic>Cancer genetics</topic><topic>Cancer therapies</topic><topic>Cell Line, Tumor</topic><topic>Cells (Biology)</topic><topic>Chromosome Mapping</topic><topic>Comparative Genomic Hybridization</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA repair</topic><topic>Evolution &amp; development</topic><topic>Genetic aspects</topic><topic>Genome, Human - genetics</topic><topic>Genomes</topic><topic>Genomic analysis</topic><topic>Genomics</topic><topic>Genomics - methods</topic><topic>Humans</topic><topic>Insertion</topic><topic>Liver</topic><topic>Medical research</topic><topic>Medicine</topic><topic>Metastases</topic><topic>Metastasis</topic><topic>Minority &amp; ethnic groups</topic><topic>Mutation</topic><topic>Pancreatic cancer</topic><topic>Pancreatic Neoplasms - genetics</topic><topic>Pancreatic Neoplasms - pathology</topic><topic>Proteins</topic><topic>Sequence Analysis, DNA - methods</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Barber, Louise J</creatorcontrib><creatorcontrib>Rosa Rosa, Juan M</creatorcontrib><creatorcontrib>Kozarewa, Iwanka</creatorcontrib><creatorcontrib>Fenwick, Kerry</creatorcontrib><creatorcontrib>Assiotis, Ioannis</creatorcontrib><creatorcontrib>Mitsopoulos, Costas</creatorcontrib><creatorcontrib>Sims, David</creatorcontrib><creatorcontrib>Hakas, Jarle</creatorcontrib><creatorcontrib>Zvelebil, Marketa</creatorcontrib><creatorcontrib>Lord, Christopher J</creatorcontrib><creatorcontrib>Ashworth, Alan</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>ProQuest Nursing &amp; Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological &amp; Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>ProQuest Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science &amp; Engineering Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central</collection><collection>Advanced Technologies &amp; Aerospace Collection</collection><collection>Agricultural &amp; Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing &amp; Allied Health Database (Alumni Edition)</collection><collection>Meteorological &amp; Geoastrophysical Abstracts - Academic</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Agriculture Science Database</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Nursing &amp; Allied Health Premium</collection><collection>Advanced Technologies &amp; Aerospace Database</collection><collection>ProQuest Advanced Technologies &amp; Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Materials Science Collection</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Barber, Louise J</au><au>Rosa Rosa, Juan M</au><au>Kozarewa, Iwanka</au><au>Fenwick, Kerry</au><au>Assiotis, Ioannis</au><au>Mitsopoulos, Costas</au><au>Sims, David</au><au>Hakas, Jarle</au><au>Zvelebil, Marketa</au><au>Lord, Christopher J</au><au>Ashworth, Alan</au><au>Oshima, Robert</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2011-07-05</date><risdate>2011</risdate><volume>6</volume><issue>7</issue><spage>e21639</spage><epage>e21639</epage><pages>e21639-e21639</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>21750719</pmid><doi>10.1371/journal.pone.0021639</doi><tpages>e21639</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1932-6203
ispartof PloS one, 2011-07, Vol.6 (7), p.e21639-e21639
issn 1932-6203
1932-6203
language eng
recordid cdi_plos_journals_1305134755
source Publicly Available Content Database; PubMed Central
subjects Adenocarcinoma
Adenocarcinoma - genetics
Adenocarcinoma - pathology
Analysis
Biology
BRCA2 protein
BRCA2 Protein - deficiency
BRCA2 Protein - genetics
Breast cancer
Cancer genetics
Cancer therapies
Cell Line, Tumor
Cells (Biology)
Chromosome Mapping
Comparative Genomic Hybridization
Deoxyribonucleic acid
DNA
DNA repair
Evolution & development
Genetic aspects
Genome, Human - genetics
Genomes
Genomic analysis
Genomics
Genomics - methods
Humans
Insertion
Liver
Medical research
Medicine
Metastases
Metastasis
Minority & ethnic groups
Mutation
Pancreatic cancer
Pancreatic Neoplasms - genetics
Pancreatic Neoplasms - pathology
Proteins
Sequence Analysis, DNA - methods
Tumors
title Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T17%3A35%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Comprehensive%20genomic%20analysis%20of%20a%20BRCA2%20deficient%20human%20pancreatic%20cancer&rft.jtitle=PloS%20one&rft.au=Barber,%20Louise%20J&rft.date=2011-07-05&rft.volume=6&rft.issue=7&rft.spage=e21639&rft.epage=e21639&rft.pages=e21639-e21639&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0021639&rft_dat=%3Cgale_plos_%3EA476886401%3C/gale_plos_%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c691t-2bc81f2ce61b620f43123d88482e44df75d70b3337db3d59c0716507da60993b3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1305134755&rft_id=info:pmid/21750719&rft_galeid=A476886401&rfr_iscdi=true