Tandem duplication of chromosomal segments is common in ovarian and breast cancer genomes
Identifieur interne : 005593 ( Main/Exploration ); précédent : 005592; suivant : 005594Tandem duplication of chromosomal segments is common in ovarian and breast cancer genomes
Auteurs : David J. Mcbride [Royaume-Uni, Australie] ; Dariush Etemadmoghadam [Australie] ; Susanna L. Cooke [Royaume-Uni, Australie] ; Kathryn Alsop [Australie] ; Joshy George [Australie] ; Adam Butler [Royaume-Uni] ; Juok Cho [Royaume-Uni] ; Danushka Galappaththige [Royaume-Uni] ; Chris Greenman [Royaume-Uni] ; Karen D. Howarth [Royaume-Uni] ; King W. Lau [Royaume-Uni] ; Charlotte K. Ng [Royaume-Uni] ; Keiran Raine [Royaume-Uni] ; Jon Teague [Royaume-Uni] ; David C. Wedge [Royaume-Uni] ; Australian Ovarian Cancer Study Group [Australie] ; Xavier Caubit [France] ; Michael R. Stratton [Royaume-Uni] ; James D. Brenton [Royaume-Uni] ; Peter J. Campbell [Royaume-Uni] ; P Andrew Futreal [Royaume-Uni] ; David Dl Bowtell [Australie]Source :
- The Journal of Pathology [ 0022-3417 ] ; 2012-08.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Cancer, Droit d'auteur, Génétique.
English descriptors
- KwdEn :
- Anatomic pathology, Arid1a, Brca1, Brca2, Breakpoints, Breast cancer, Cancer, Cancer genome, Cancer study, Cancer type, Carcinoma, Ccne1, Cell cancers, Chromosome, Clear cell, Clear cell cancers, Clin cancer, Copy number data, Copyright, Deletion, Exon, Fusion gene, Gene, Gene expression, Gene rearrangement, Genetics, Genome, Genomic, Germline, Germline brca1, Great britain, Hgscs, Hgscs cases, High frequency, Inversion, John wiley sons, Maccallum cancer centre, Mutation, Ovarian, Ovarian cancer, Ovarian cancers, Ovarian tumours, Ovary cancer, Pathol, Pathological society, Phenotype, Prostate cancer, Rearrangement, Sequencing, Serous, Somatic, Somatic mutations, Somatic rearrangements, Structural rearrangements, Subtypes, Tandem, Tandem duplication, Tandem duplication phenotype, Tandem duplications, Tandem duplicator phenotype, Tandemly repeated sequence, Translocation, Tshz3, Tshz3 breakpoints, Tshz3 gene expression, Tumour.
- Teeft :
- Arid1a, Brca1, Brca2, Breakpoints, Cancer, Cancer genome, Cancer study, Cancer type, Carcinoma, Ccne1, Cell cancers, Clear cell, Clear cell cancers, Clin cancer, Copy number data, Copyright, Deletion, Exon, Fusion gene, Gene, Gene expression, Genome, Genomic, Germline, Germline brca1, Great britain, Hgscs, Hgscs cases, High frequency, Inversion, John wiley sons, Maccallum cancer centre, Mutation, Ovarian, Ovarian cancer, Ovarian cancers, Ovarian tumours, Pathol, Pathological society, Phenotype, Prostate cancer, Rearrangement, Sequencing, Serous, Somatic, Somatic mutations, Somatic rearrangements, Structural rearrangements, Subtypes, Tandem, Tandem duplication, Tandem duplication phenotype, Tandem duplications, Tandem duplicator phenotype, Translocation, Tshz3, Tshz3 breakpoints, Tshz3 gene expression, Tumour.
Abstract
The application of paired‐end next generation sequencing approaches has made it possible to systematically characterize rearrangements of the cancer genome to base‐pair level. Utilizing this approach, we report the first detailed analysis of ovarian cancer rearrangements, comparing high‐grade serous and clear cell cancers, and these histotypes with other solid cancers. Somatic rearrangements were systematically characterized in eight high‐grade serous and five clear cell ovarian cancer genomes and we report here the identification of > 600 somatic rearrangements. Recurrent rearrangements of the transcriptional regulator gene, TSHZ3, were found in three of eight serous cases. Comparison to breast, pancreatic and prostate cancer genomes revealed that a subset of ovarian cancers share a marked tandem duplication phenotype with triple‐negative breast cancers. The tandem duplication phenotype was not linked to BRCA1/2 mutation, suggesting that other common mechanisms or carcinogenic exposures are operative. High‐grade serous cancers arising in women with germline BRCA1 or BRCA2 mutation showed a high frequency of small chromosomal deletions. These findings indicate that BRCA1/2 germline mutation may contribute to widespread structural change and that other undefined mechanism(s), which are potentially shared with triple‐negative breast cancer, promote tandem chromosomal duplications that sculpt the ovarian cancer genome. Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Url:
DOI: 10.1002/path.4042
Affiliations:
- Australie, France, Royaume-Uni
- Angleterre, Angleterre de l'Est, Provence-Alpes-Côte d'Azur, Victoria (État)
- Cambridge, Marseille, Melbourne
- Aix-Marseille Université, Université de Cambridge, Université de Melbourne, Université de la Méditerranée
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Le document en format XML
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Howarth</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Hutchison/MRC Research Centre and Department of Pathology, University of Cambridge</wicri:regionArea><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation></author><author><name sortKey="Lau, King W" sort="Lau, King W" uniqKey="Lau K" first="King W" last="Lau">King W. Lau</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Ng, Charlotte K" sort="Ng, Charlotte K" uniqKey="Ng C" first="Charlotte K" last="Ng">Charlotte K. Ng</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Research UK Cambridge Research Institute, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Raine, Keiran" sort="Raine, Keiran" uniqKey="Raine K" first="Keiran" last="Raine">Keiran Raine</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Wedge, David C" sort="Wedge, David C" uniqKey="Wedge D" first="David C" last="Wedge">David C. Wedge</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Cancer Study Group, Australian Ovarian" sort="Cancer Study Group, Australian Ovarian" uniqKey="Cancer Study Group A" first="Australian Ovarian" last="Cancer Study Group">Australian Ovarian Cancer Study Group</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Genomics and Genetics, Peter MacCallum Cancer Centre, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Caubit, Xavier" sort="Caubit, Xavier" uniqKey="Caubit X" first="Xavier" last="Caubit">Xavier Caubit</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Developmental Biology Institute of Marseille‐Luminy (IBDML), UMR 6216, CNRS‐Inserm‐Université de la Méditerranée</wicri:regionArea><placeName><settlement type="city">Marseille</settlement><region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName><orgName type="university">Université de la Méditerranée</orgName><orgName type="institution" wicri:auto="newGroup">Aix-Marseille Université</orgName></affiliation></author><author><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R" last="Stratton">Michael R. Stratton</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Brenton, James D" sort="Brenton, James D" uniqKey="Brenton J" first="James D" last="Brenton">James D. Brenton</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Research UK Cambridge Research Institute, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Campbell, Peter J" sort="Campbell, Peter J" uniqKey="Campbell P" first="Peter J" last="Campbell">Peter J. Campbell</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P Andrew" last="Futreal">P Andrew Futreal</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Bowtell, David Dl" sort="Bowtell, David Dl" uniqKey="Bowtell D" first="David Dl" last="Bowtell">David Dl Bowtell</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Genomics and Genetics, Peter MacCallum Cancer Centre, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>Sir Peter MacCallum Department of Oncology, University of Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Correspondence address: Cancer Genomics 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xml:lang="en"><term>Anatomic pathology</term><term>Arid1a</term><term>Brca1</term><term>Brca2</term><term>Breakpoints</term><term>Breast cancer</term><term>Cancer</term><term>Cancer genome</term><term>Cancer study</term><term>Cancer type</term><term>Carcinoma</term><term>Ccne1</term><term>Cell cancers</term><term>Chromosome</term><term>Clear cell</term><term>Clear cell cancers</term><term>Clin cancer</term><term>Copy number data</term><term>Copyright</term><term>Deletion</term><term>Exon</term><term>Fusion gene</term><term>Gene</term><term>Gene expression</term><term>Gene rearrangement</term><term>Genetics</term><term>Genome</term><term>Genomic</term><term>Germline</term><term>Germline brca1</term><term>Great britain</term><term>Hgscs</term><term>Hgscs cases</term><term>High frequency</term><term>Inversion</term><term>John wiley sons</term><term>Maccallum cancer centre</term><term>Mutation</term><term>Ovarian</term><term>Ovarian cancer</term><term>Ovarian cancers</term><term>Ovarian tumours</term><term>Ovary cancer</term><term>Pathol</term><term>Pathological society</term><term>Phenotype</term><term>Prostate cancer</term><term>Rearrangement</term><term>Sequencing</term><term>Serous</term><term>Somatic</term><term>Somatic mutations</term><term>Somatic rearrangements</term><term>Structural rearrangements</term><term>Subtypes</term><term>Tandem</term><term>Tandem duplication</term><term>Tandem duplication phenotype</term><term>Tandem duplications</term><term>Tandem duplicator phenotype</term><term>Tandemly repeated sequence</term><term>Translocation</term><term>Tshz3</term><term>Tshz3 breakpoints</term><term>Tshz3 gene expression</term><term>Tumour</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Anatomopathologie</term><term>Cancer de l'ovaire</term><term>Cancer du sein</term><term>Chromosome</term><term>Génome</term><term>Génétique</term><term>Réarrangement génique</term><term>Séquence répétée en tandem</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Arid1a</term><term>Brca1</term><term>Brca2</term><term>Breakpoints</term><term>Cancer</term><term>Cancer genome</term><term>Cancer study</term><term>Cancer type</term><term>Carcinoma</term><term>Ccne1</term><term>Cell cancers</term><term>Clear cell</term><term>Clear cell cancers</term><term>Clin cancer</term><term>Copy number data</term><term>Copyright</term><term>Deletion</term><term>Exon</term><term>Fusion gene</term><term>Gene</term><term>Gene expression</term><term>Genome</term><term>Genomic</term><term>Germline</term><term>Germline brca1</term><term>Great britain</term><term>Hgscs</term><term>Hgscs cases</term><term>High frequency</term><term>Inversion</term><term>John wiley sons</term><term>Maccallum cancer centre</term><term>Mutation</term><term>Ovarian</term><term>Ovarian cancer</term><term>Ovarian cancers</term><term>Ovarian tumours</term><term>Pathol</term><term>Pathological society</term><term>Phenotype</term><term>Prostate cancer</term><term>Rearrangement</term><term>Sequencing</term><term>Serous</term><term>Somatic</term><term>Somatic mutations</term><term>Somatic rearrangements</term><term>Structural rearrangements</term><term>Subtypes</term><term>Tandem</term><term>Tandem duplication</term><term>Tandem duplication phenotype</term><term>Tandem duplications</term><term>Tandem duplicator phenotype</term><term>Translocation</term><term>Tshz3</term><term>Tshz3 breakpoints</term><term>Tshz3 gene expression</term><term>Tumour</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cancer</term><term>Droit d'auteur</term><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The application of paired‐end next generation sequencing approaches has made it possible to systematically characterize rearrangements of the cancer genome to base‐pair level. Utilizing this approach, we report the first detailed analysis of ovarian cancer rearrangements, comparing high‐grade serous and clear cell cancers, and these histotypes with other solid cancers. Somatic rearrangements were systematically characterized in eight high‐grade serous and five clear cell ovarian cancer genomes and we report here the identification of > 600 somatic rearrangements. Recurrent rearrangements of the transcriptional regulator gene, TSHZ3, were found in three of eight serous cases. Comparison to breast, pancreatic and prostate cancer genomes revealed that a subset of ovarian cancers share a marked tandem duplication phenotype with triple‐negative breast cancers. The tandem duplication phenotype was not linked to BRCA1/2 mutation, suggesting that other common mechanisms or carcinogenic exposures are operative. High‐grade serous cancers arising in women with germline BRCA1 or BRCA2 mutation showed a high frequency of small chromosomal deletions. These findings indicate that BRCA1/2 germline mutation may contribute to widespread structural change and that other undefined mechanism(s), which are potentially shared with triple‐negative breast cancer, promote tandem chromosomal duplications that sculpt the ovarian cancer genome. Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Provence-Alpes-Côte d'Azur</li><li>Victoria (État)</li></region><settlement><li>Cambridge</li><li>Marseille</li><li>Melbourne</li></settlement><orgName><li>Aix-Marseille Université</li><li>Université de Cambridge</li><li>Université de Melbourne</li><li>Université de la Méditerranée</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Mcbride, David J" sort="Mcbride, David J" uniqKey="Mcbride D" first="David J" last="Mcbride">David J. Mcbride</name></noRegion><name sortKey="Brenton, James D" sort="Brenton, James D" uniqKey="Brenton J" first="James D" last="Brenton">James D. Brenton</name><name sortKey="Butler, Adam" sort="Butler, Adam" uniqKey="Butler A" first="Adam" last="Butler">Adam Butler</name><name sortKey="Campbell, Peter J" sort="Campbell, Peter J" uniqKey="Campbell P" first="Peter J" last="Campbell">Peter J. Campbell</name><name sortKey="Cho, Juok" sort="Cho, Juok" uniqKey="Cho J" first="Juok" last="Cho">Juok Cho</name><name sortKey="Cooke, Susanna L" sort="Cooke, Susanna L" uniqKey="Cooke S" first="Susanna L" last="Cooke">Susanna L. Cooke</name><name sortKey="Cooke, Susanna L" sort="Cooke, Susanna L" uniqKey="Cooke S" first="Susanna L" last="Cooke">Susanna L. Cooke</name><name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P Andrew" last="Futreal">P Andrew Futreal</name><name sortKey="Galappaththige, Danushka" sort="Galappaththige, Danushka" uniqKey="Galappaththige D" first="Danushka" last="Galappaththige">Danushka Galappaththige</name><name sortKey="Greenman, Chris" sort="Greenman, Chris" uniqKey="Greenman C" first="Chris" last="Greenman">Chris Greenman</name><name sortKey="Howarth, Karen D" sort="Howarth, Karen D" uniqKey="Howarth K" first="Karen D" last="Howarth">Karen D. Howarth</name><name sortKey="Lau, King W" sort="Lau, King W" uniqKey="Lau K" first="King W" last="Lau">King W. Lau</name><name sortKey="Ng, Charlotte K" sort="Ng, Charlotte K" uniqKey="Ng C" first="Charlotte K" last="Ng">Charlotte K. Ng</name><name sortKey="Raine, Keiran" sort="Raine, Keiran" uniqKey="Raine K" first="Keiran" last="Raine">Keiran Raine</name><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R" last="Stratton">Michael R. Stratton</name><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name><name sortKey="Wedge, David C" sort="Wedge, David C" uniqKey="Wedge D" first="David C" last="Wedge">David C. Wedge</name></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Mcbride, David J" sort="Mcbride, David J" uniqKey="Mcbride D" first="David J" last="Mcbride">David J. Mcbride</name></region><name sortKey="Alsop, Kathryn" sort="Alsop, Kathryn" uniqKey="Alsop K" first="Kathryn" last="Alsop">Kathryn Alsop</name><name sortKey="Alsop, Kathryn" sort="Alsop, Kathryn" uniqKey="Alsop K" first="Kathryn" last="Alsop">Kathryn Alsop</name><name sortKey="Bowtell, David Dl" sort="Bowtell, David Dl" uniqKey="Bowtell D" first="David Dl" last="Bowtell">David Dl Bowtell</name><name sortKey="Bowtell, David Dl" sort="Bowtell, David Dl" uniqKey="Bowtell D" first="David Dl" last="Bowtell">David Dl Bowtell</name><name sortKey="Bowtell, David Dl" sort="Bowtell, David Dl" uniqKey="Bowtell D" first="David Dl" last="Bowtell">David Dl Bowtell</name><name sortKey="Bowtell, David Dl" sort="Bowtell, David Dl" uniqKey="Bowtell D" first="David Dl" last="Bowtell">David Dl Bowtell</name><name sortKey="Cancer Study Group, Australian Ovarian" sort="Cancer Study Group, Australian Ovarian" uniqKey="Cancer Study Group A" first="Australian Ovarian" last="Cancer Study Group">Australian Ovarian Cancer Study Group</name><name sortKey="Cooke, Susanna L" sort="Cooke, Susanna L" uniqKey="Cooke S" first="Susanna L" last="Cooke">Susanna L. Cooke</name><name sortKey="Etemadmoghadam, Dariush" sort="Etemadmoghadam, Dariush" uniqKey="Etemadmoghadam D" first="Dariush" last="Etemadmoghadam">Dariush Etemadmoghadam</name><name sortKey="Etemadmoghadam, Dariush" sort="Etemadmoghadam, Dariush" uniqKey="Etemadmoghadam D" first="Dariush" last="Etemadmoghadam">Dariush Etemadmoghadam</name><name sortKey="Etemadmoghadam, Dariush" sort="Etemadmoghadam, Dariush" uniqKey="Etemadmoghadam D" first="Dariush" last="Etemadmoghadam">Dariush Etemadmoghadam</name><name sortKey="George, Joshy" sort="George, Joshy" uniqKey="George J" first="Joshy" last="George">Joshy George</name><name sortKey="George, Joshy" sort="George, Joshy" uniqKey="George J" first="Joshy" last="George">Joshy George</name></country><country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Caubit, Xavier" sort="Caubit, Xavier" uniqKey="Caubit X" first="Xavier" last="Caubit">Xavier Caubit</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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