Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer
Circulating tumour DNA analysis can be used to track tumour burden and analyse cancer genomes non-invasively but the extent to which it represents metastatic heterogeneity is unknown. Here we follow a patient with metastatic ER-positive and HER2-positive breast cancer receiving two lines of targeted...
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Veröffentlicht in: | Nature communications 2015-11, Vol.6 (1), p.8760, Article 8760 |
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creator | Murtaza, Muhammed Dawson, Sarah-Jane Pogrebniak, Katherine Rueda, Oscar M. Provenzano, Elena Grant, John Chin, Suet-Feung Tsui, Dana W. Y. Marass, Francesco Gale, Davina Ali, H. Raza Shah, Pankti Contente-Cuomo, Tania Farahani, Hossein Shumansky, Karey Kingsbury, Zoya Humphray, Sean Bentley, David Shah, Sohrab P. Wallis, Matthew Rosenfeld, Nitzan Caldas, Carlos |
description | Circulating tumour DNA analysis can be used to track tumour burden and analyse cancer genomes non-invasively but the extent to which it represents metastatic heterogeneity is unknown. Here we follow a patient with metastatic ER-positive and HER2-positive breast cancer receiving two lines of targeted therapy over 3 years. We characterize genomic architecture and infer clonal evolution in eight tumour biopsies and nine plasma samples collected over 1,193 days of clinical follow-up using exome and targeted amplicon sequencing. Mutation levels in the plasma samples reflect the clonal hierarchy inferred from sequencing of tumour biopsies. Serial changes in circulating levels of sub-clonal private mutations correlate with different treatment responses between metastatic sites. This comparison of biopsy and plasma samples in a single patient with metastatic breast cancer shows that circulating tumour DNA can allow real-time sampling of multifocal clonal evolution.
Individual tumours are heterogeneous with regards to genetic mutations. In this study, the authors use sequencing to follow multiple tumour and plasma samples over 3 years from a breast cancer patient and show mutations detected in the plasma samples could partially reproduce the clonal nature of the primary tumour. |
doi_str_mv | 10.1038/ncomms9760 |
format | Article |
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Individual tumours are heterogeneous with regards to genetic mutations. In this study, the authors use sequencing to follow multiple tumour and plasma samples over 3 years from a breast cancer patient and show mutations detected in the plasma samples could partially reproduce the clonal nature of the primary tumour.</description><identifier>ISSN: 2041-1723</identifier><identifier>EISSN: 2041-1723</identifier><identifier>DOI: 10.1038/ncomms9760</identifier><identifier>PMID: 26530965</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/67/1347 ; 631/67/68 ; Adult ; Antineoplastic Combined Chemotherapy Protocols - therapeutic use ; Bayes Theorem ; Biological evolution ; Biopsy ; Brain Neoplasms - genetics ; Brain Neoplasms - secondary ; Breast cancer ; Breast Neoplasms - drug therapy ; Breast Neoplasms - genetics ; Breast Neoplasms - metabolism ; Breast Neoplasms - pathology ; Cancer ; Carcinoma, Ductal, Breast - drug therapy ; Carcinoma, Ductal, Breast - genetics ; Carcinoma, Ductal, Breast - metabolism ; Carcinoma, Ductal, Breast - pathology ; Case-Control Studies ; Clonal Evolution - genetics ; Deoxycytidine - administration & dosage ; Deoxycytidine - analogs & derivatives ; Deoxyribonucleic acid ; DNA ; DNA, Neoplasm - genetics ; ErbB-2 protein ; Evolution ; Female ; Gemcitabine ; Genomes ; Heterogeneity ; Humanities and Social Sciences ; Humans ; Lapatinib ; Liver Neoplasms - genetics ; Liver Neoplasms - secondary ; Lung Neoplasms - genetics ; Lung Neoplasms - secondary ; Metastases ; Metastasis ; multidisciplinary ; Mutation ; Neoplasm Metastasis ; Patients ; Quinazolines - administration & dosage ; Receptor, ErbB-2 - metabolism ; Receptors, Estrogen - metabolism ; Science ; Science (multidisciplinary) ; Sequence Analysis, DNA ; Spinal Neoplasms - genetics ; Spinal Neoplasms - secondary ; Tamoxifen - administration & dosage ; Trastuzumab - administration & dosage ; Tumors</subject><ispartof>Nature communications, 2015-11, Vol.6 (1), p.8760, Article 8760</ispartof><rights>The Author(s) 2015</rights><rights>Copyright Nature Publishing Group Nov 2015</rights><rights>Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c442t-d4d7c901a2ecea0b600269fb64914fb5afca864ee97b670ba24d5088319b2a123</citedby><cites>FETCH-LOGICAL-c442t-d4d7c901a2ecea0b600269fb64914fb5afca864ee97b670ba24d5088319b2a123</cites><orcidid>0000-0001-7557-2861</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659935/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659935/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,27924,27925,41120,42189,51576,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26530965$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Murtaza, Muhammed</creatorcontrib><creatorcontrib>Dawson, Sarah-Jane</creatorcontrib><creatorcontrib>Pogrebniak, Katherine</creatorcontrib><creatorcontrib>Rueda, Oscar M.</creatorcontrib><creatorcontrib>Provenzano, Elena</creatorcontrib><creatorcontrib>Grant, John</creatorcontrib><creatorcontrib>Chin, Suet-Feung</creatorcontrib><creatorcontrib>Tsui, Dana W. Y.</creatorcontrib><creatorcontrib>Marass, Francesco</creatorcontrib><creatorcontrib>Gale, Davina</creatorcontrib><creatorcontrib>Ali, H. Raza</creatorcontrib><creatorcontrib>Shah, Pankti</creatorcontrib><creatorcontrib>Contente-Cuomo, Tania</creatorcontrib><creatorcontrib>Farahani, Hossein</creatorcontrib><creatorcontrib>Shumansky, Karey</creatorcontrib><creatorcontrib>Kingsbury, Zoya</creatorcontrib><creatorcontrib>Humphray, Sean</creatorcontrib><creatorcontrib>Bentley, David</creatorcontrib><creatorcontrib>Shah, Sohrab P.</creatorcontrib><creatorcontrib>Wallis, Matthew</creatorcontrib><creatorcontrib>Rosenfeld, Nitzan</creatorcontrib><creatorcontrib>Caldas, Carlos</creatorcontrib><title>Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer</title><title>Nature communications</title><addtitle>Nat Commun</addtitle><addtitle>Nat Commun</addtitle><description>Circulating tumour DNA analysis can be used to track tumour burden and analyse cancer genomes non-invasively but the extent to which it represents metastatic heterogeneity is unknown. Here we follow a patient with metastatic ER-positive and HER2-positive breast cancer receiving two lines of targeted therapy over 3 years. We characterize genomic architecture and infer clonal evolution in eight tumour biopsies and nine plasma samples collected over 1,193 days of clinical follow-up using exome and targeted amplicon sequencing. Mutation levels in the plasma samples reflect the clonal hierarchy inferred from sequencing of tumour biopsies. Serial changes in circulating levels of sub-clonal private mutations correlate with different treatment responses between metastatic sites. This comparison of biopsy and plasma samples in a single patient with metastatic breast cancer shows that circulating tumour DNA can allow real-time sampling of multifocal clonal evolution.
Individual tumours are heterogeneous with regards to genetic mutations. 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Y.</au><au>Marass, Francesco</au><au>Gale, Davina</au><au>Ali, H. Raza</au><au>Shah, Pankti</au><au>Contente-Cuomo, Tania</au><au>Farahani, Hossein</au><au>Shumansky, Karey</au><au>Kingsbury, Zoya</au><au>Humphray, Sean</au><au>Bentley, David</au><au>Shah, Sohrab P.</au><au>Wallis, Matthew</au><au>Rosenfeld, Nitzan</au><au>Caldas, Carlos</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer</atitle><jtitle>Nature communications</jtitle><stitle>Nat Commun</stitle><addtitle>Nat Commun</addtitle><date>2015-11-04</date><risdate>2015</risdate><volume>6</volume><issue>1</issue><spage>8760</spage><pages>8760-</pages><artnum>8760</artnum><issn>2041-1723</issn><eissn>2041-1723</eissn><abstract>Circulating tumour DNA analysis can be used to track tumour burden and analyse cancer genomes non-invasively but the extent to which it represents metastatic heterogeneity is unknown. Here we follow a patient with metastatic ER-positive and HER2-positive breast cancer receiving two lines of targeted therapy over 3 years. We characterize genomic architecture and infer clonal evolution in eight tumour biopsies and nine plasma samples collected over 1,193 days of clinical follow-up using exome and targeted amplicon sequencing. Mutation levels in the plasma samples reflect the clonal hierarchy inferred from sequencing of tumour biopsies. Serial changes in circulating levels of sub-clonal private mutations correlate with different treatment responses between metastatic sites. This comparison of biopsy and plasma samples in a single patient with metastatic breast cancer shows that circulating tumour DNA can allow real-time sampling of multifocal clonal evolution.
Individual tumours are heterogeneous with regards to genetic mutations. In this study, the authors use sequencing to follow multiple tumour and plasma samples over 3 years from a breast cancer patient and show mutations detected in the plasma samples could partially reproduce the clonal nature of the primary tumour.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>26530965</pmid><doi>10.1038/ncomms9760</doi><orcidid>https://orcid.org/0000-0001-7557-2861</orcidid><oa>free_for_read</oa></addata></record> |
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source | MEDLINE; DOAJ Directory of Open Access Journals; Springer Nature OA Free Journals; Nature Free; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
subjects | 631/67/1347 631/67/68 Adult Antineoplastic Combined Chemotherapy Protocols - therapeutic use Bayes Theorem Biological evolution Biopsy Brain Neoplasms - genetics Brain Neoplasms - secondary Breast cancer Breast Neoplasms - drug therapy Breast Neoplasms - genetics Breast Neoplasms - metabolism Breast Neoplasms - pathology Cancer Carcinoma, Ductal, Breast - drug therapy Carcinoma, Ductal, Breast - genetics Carcinoma, Ductal, Breast - metabolism Carcinoma, Ductal, Breast - pathology Case-Control Studies Clonal Evolution - genetics Deoxycytidine - administration & dosage Deoxycytidine - analogs & derivatives Deoxyribonucleic acid DNA DNA, Neoplasm - genetics ErbB-2 protein Evolution Female Gemcitabine Genomes Heterogeneity Humanities and Social Sciences Humans Lapatinib Liver Neoplasms - genetics Liver Neoplasms - secondary Lung Neoplasms - genetics Lung Neoplasms - secondary Metastases Metastasis multidisciplinary Mutation Neoplasm Metastasis Patients Quinazolines - administration & dosage Receptor, ErbB-2 - metabolism Receptors, Estrogen - metabolism Science Science (multidisciplinary) Sequence Analysis, DNA Spinal Neoplasms - genetics Spinal Neoplasms - secondary Tamoxifen - administration & dosage Trastuzumab - administration & dosage Tumors |
title | Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-06T07%3A40%3A51IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Multifocal%20clonal%20evolution%20characterized%20using%20circulating%20tumour%20DNA%20in%20a%20case%20of%20metastatic%20breast%20cancer&rft.jtitle=Nature%20communications&rft.au=Murtaza,%20Muhammed&rft.date=2015-11-04&rft.volume=6&rft.issue=1&rft.spage=8760&rft.pages=8760-&rft.artnum=8760&rft.issn=2041-1723&rft.eissn=2041-1723&rft_id=info:doi/10.1038/ncomms9760&rft_dat=%3Cproquest_pubme%3E3856062851%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1729351788&rft_id=info:pmid/26530965&rfr_iscdi=true |