4.7 Review

Cell-free circulating tumour DNA as a liquid biopsy in breast cancer

期刊

MOLECULAR ONCOLOGY
卷 10, 期 3, 页码 464-474

出版社

WILEY
DOI: 10.1016/j.molonc.2015.12.001

关键词

Breast cancer; Circulating cell-free tumour DNA; Stratification; Monitoring; Resistance; Heterogeneity

类别

资金

  1. Cancer Research UK [16942] Funding Source: researchfish
  2. National Institute for Health Research [NF-SI-0515-10090, NF-SI-0611-10154] Funding Source: researchfish

向作者/读者索取更多资源

Recent developments in massively parallel sequencing and digital genomic techniques support the clinical validity of cell-free circulating tumour DNA (ctDNA) as a 'liquid biopsy' in human cancer. In breast cancer, ctDNA detected in plasma can be used to non invasively scan tumour genomes and quantify tumour burden. The applications for ctDNA in plasma include identifying actionable genomic alterations, monitoring treatment responses, unravelling therapeutic resistance, and potentially detecting disease progression before clinical and radiological confirmation. ctDNA may be used to characterise tumour heterogeneity and metastasis-specific mutations providing information to adapt the therapeutic management of patients. In this article, we review the current status of ctDNA as a `liquid biopsy' in breast cancer. (C) 2015 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Multidisciplinary Sciences

Multi-omic machine learning predictor of breast cancer therapy response

Stephen-John Sammut, Mireia Crispin-Ortuzar, Suet-Feung Chin, Elena Provenzano, Helen A. Bardwell, Wenxin Ma, Wei Cope, Ali Dariush, Sarah-Jane Dawson, Jean E. Abraham, Janet Dunn, Louise Hiller, Jeremy Thomas, David A. Cameron, John M. S. Bartlett, Larry Hayward, Paul D. Pharoah, Florian Markowetz, Oscar M. Rueda, Helena M. Earl, Carlos Caldas

Summary: This study demonstrates that the response to breast cancer treatment is influenced by the pre-treatment tumour ecosystem, and a machine learning model incorporating multi-omic features can predict pathological complete response.

NATURE (2022)

Article Biochemistry & Molecular Biology

Clonal populations of a human TNBC model display significant functional heterogeneity and divergent growth dynamics in distinct contexts

Hendrik J. Kuiken, Sabin Dhakal, Laura M. Selfors, Chandler M. Friend, Tian Zhang, Maurizio Callari, Ron C. J. Schackmann, G. Kenneth Gray, Jett Crowdis, Hyo-Eun C. Bhang, Timour Baslan, Frank Stegmeier, Steven P. Gygi, Carlos Caldas, Joan S. Brugge

Summary: Intratumoral heterogeneity exists in different tumor types and models, affecting tumor progression and drug resistance. In this study, subclonal populations derived from a triple-negative breast cancer cell line showed unique genetic alterations and varied in growth and tumor forming ability. Clonal dynamics analysis revealed selection for distinct populations in different environments, with one subclone showing selective advantage and decreased sensitivity to interferon signaling in xenograft tumors, suggesting potential implications for cancer and xenograft models.

ONCOGENE (2022)

Editorial Material Oncology

With one eye on the future

Carlos Caldas, Maria Rescigno, Samra Turajlic, Anant Madabhushi, Zemin Zhang, Piro Lito, Christine E. Brown, Klaus Pantel, John Haanen, Narjust Duma

Summary: In the past 20 years, cancer research has entered a new era, shifting its focus from cancer cells themselves to the complex interactions within the tumor and with the host, which ultimately determine the evolution and progression of the disease. The development of immunotherapies and new diagnostic strategies has changed the fate of many patients and has the potential to revolutionize clinical practice.

CANCER CELL (2022)

Meeting Abstract Oncology

The association between genomic alterations and body mass index in patients with early breast cancer

Ha-Linh Nguyen, Tatjana Geukens, Marion Maetens, Karen Van Baelen, Maxim De Schepper, Sophia Leduc, Edoardo Isnaldi, Sam Aparicio, Ake Borg, Jane Brock, Annegien Broeks, Carlos Caldas, Andrew Green, Hazem Khout, Eyfjoro Jorunn, Stian Knappskog, Savitri Krishnamurthy, Sunil Lakhani, Anita Langerod, John W. M. Martens, Leigh Murphy, Serena Nik-Zainal, Colin Purdie, Emad Rakha, Andrea Richardson, Anne Salomon, Peter Simpson, Christos Sotiriou, Paul Span, Benita Kiat-Tee Tan, Alastair Thompson, Stefania Tommasi, Marc Van De Vijver, Steven Van Laere, Alain Viari, Giuseppe Floris, Elia Biganzoli, Francois Richard, Christine Desmedt

CANCER RESEARCH (2022)

Article Oncology

Preclinical In Vivo Validation of the RAD51 Test for Identification of Homologous Recombination-Deficient Tumors and Patient Stratification

Benedetta Pellegrino, Andrea Herencia-Ropero, Alba Llop-Guevara, Flaminia Pedretti, Alejandro Moles-Fernandez, Cristina Viaplana, Guillermo Villacampa, Marta Guzman, Olga Rodriguez, Judit Grueso, Jose Jimenez, Enrique J. Arenas, Andrea Degasperi, Joao M. L. Dias, Josep Forment, Mark J. O'Connor, Olivier Deas, Stefano Cairo, Yinghui Zhou, Antonino Musolino, Carlos Caldas, Serena Nik-Zainal, Robert B. Clarke, Paolo Nuciforo, Orland Diez, Xavier Serres-Creixams, Vicente Peg, Martin Espinosa-Bravo, Teresa Macarulla, Ana Oaknin, Joaquin Mateo, Joaquin Arribas, Rodrigo Dienstmann, Meritxell Bellet, Mafalda Oliveira, Cristina Saura, Sara Gutierrez-Enriquez, Judith Balmana, Violeta Serra

Summary: PARP inhibitors are approved drugs for certain cancers such as ovarian, breast, prostate, and pancreatic cancers. This study validated a new test method for predicting patient response to PARPi and platinum-based therapies, showing higher accuracy compared to other detection methods. The results support further clinical assessment of this test in patient samples.

CANCER RESEARCH (2022)

Article Genetics & Heredity

Breast tumor microenvironment structures are associated with genomic features and clinical outcome

Esther Danenberg, Helen Bardwell, Vito R. T. Zanotelli, Elena Provenzano, Suet-Feung Chin, Oscar M. Rueda, Andrew Green, Emad Rakha, Samuel Aparicio, Ian O. Ellis, Bernd Bodenmiller, Carlos Caldas, H. Raza Ali

Summary: Imaging mass cytometry profiling of 693 breast tumors revealed 10 recurrent tumor microenvironment spatial structures, associated with genomic profiles and outcomes. These multicellular structures within the TME, varying in vascular content, stromal activation, and leukocyte composition, could improve patient stratification and link spatial organization to local TME function.

NATURE GENETICS (2022)

Article Oncology

Modeling the Prognostic Impact of Circulating Tumor Cells Enumeration in Metastatic Breast Cancer for Clinical Trial Design Simulation

Lorenzo Gerratana, Jean-Yves Pierga, James M. Reuben, Andrew A. Davis, Firas H. Wehbe, Luc Dirix, Tanja Fehm, Franco Nole, Rafael Gisbert-Criado, Dimitrios Mavroudis, Salvatore Grisanti, Jose A. Garcia-Saenz, Justin Stebbing, Carlos Caldas, Paola Gazzaniga, Luis Manso, Rita Zamarchi, Marta Bonotto, Angela Fernandez de Lascoiti, Leticia De Mattos-Arruda, Michail Ignatiadis, Maria-Teresa Sandri, Daniele Generali, Carmine De Angelis, Sarah-Jane Dawson, Wolfgang Janni, Vicente Caranana, Sabine Riethdorf, Erich-Franz Solomayer, Fabio Puglisi, Mario Giuliano, Klaus Pantel, Francois-Clement Bidard, Massimo Cristofanilli

Summary: This study developed a classifier for prognostic simulation of circulating tumor cells (CTCs) in metastatic breast cancer (MBC) patients. The classifier accurately predicted patients' prognosis and stratified them into different clinical subgroups. It also revealed differential prognostic impact of endocrine therapy (ET) and chemotherapy (CT) in different subgroups.

ONCOLOGIST (2022)

Article Cell Biology

Nucleoporin-93 reveals a common feature of aggressive breast cancers: robust nucleocytoplasmic transport of transcription factors

Nishanth Belugali Nataraj, Ashish Noronha, Joo Sang Lee, Soma Ghosh, Harsha Raj Mohan Raju, Arunachalam Sekar, Binyamin Zuckerman, Moshit Lindzen, Emilio Tarcitano, Swati Srivastava, Michael Selitrennik, Ido Livneh, Diana Drago-Garcia, Oscar Rueda, Carlos Caldas, Sima Lev, Tamar Geiger, Aaron Ciechanover, Igor Ulitsky, Rony Seger, Eytan Ruppin, Yosef Yarden

Summary: By establishing multi-omics pipelines, we discovered that overexpression of NUP93 is associated with aggressive human mammary tumors, enhancing their migration and invasion capabilities. NUP93 is involved in nuclear transport, activating various signaling pathways and ultimately contributing to tumor growth and metastasis. Targeting this nuclear transport process with myristoylated peptides can inhibit tumor growth and metastasis.

CELL REPORTS (2022)

Article Oncology

Copy number heterogeneity identifies ER plus breast cancer patients that do not benefit from adjuvant endocrine therapy

Tom van den Bosch, Oscar M. Rueda, Carlos Caldas, Louis Vermeulen, Daniel M. Miedema

Summary: This study found that low-risk breast cancer patients identified using chromosomal copy-number ITH do not benefit from adjuvant endocrine therapy.

BRITISH JOURNAL OF CANCER (2022)

Article Oncology

eQTL Set-Based Association Analysis Identifies Novel Susceptibility Loci for Barrett Esophagus and Esophageal Adenocarcinoma

Xiaoyu Wang, Puya Gharahkhani, David M. Levine, Rebecca C. Fitzgerald, Ines Gockel, Douglas A. Corley, Harvey A. Risch, Leslie Bernstein, Wong-Ho Chow, Lynn Onstad, Nicholas J. Shaheen, Jesper Lagergren, Laura J. Hardie, Anna H. Wu, Paul D. P. Pharoah, Geoffrey Liu, Lesley A. Anderson, Prasad G. Iyer, Marilie D. Gammon, Carlos Caldas, Weimin Ye, Hugh Barr, Paul Moayyedi, Rebecca Harrison, R. G. Peter Watson, Stephen Attwood, Laura Chegwidden, Sharon B. Love, David MacDonald, John DeCaestecker, Hans Prenen, Katja Ott, Susanne Moebus, Marino Venerito, Hauke Lang, Rupert Mayershofer, Michael Knapp, Lothar Veits, Christian Gerges, Josef Weismueller, Matthias Reeh, Markus M. Noethen, Jakob R. Izbicki, Hendrik Manner, Horst Neuhaus, Thomas Roesch, Anne C. Boehmer, Arnulf H. Hoelscher, Mario Anders, Oliver Pech, Brigitte Schumacher, Claudia Schmidt, Thomas Schmidt, Tania Noder, Dietmar Lorenz, Michael Vieth, Andrea May, Timo Hess, Nicole Kreuser, Jessica Becker, Christian Ell, Ian Tomlinson, Claire Palles, Janusz A. Jankowski, David C. Whiteman, Stuart MacGregor, Johannes Schumacher, Thomas L. Vaughan, Matthew F. Buas, James Y. Dai

Summary: This study identified novel genetic susceptibility loci for esophageal adenocarcinoma and Barrett esophagus using an eQTL set-based genetic association approach, expanding the pool of genetic susceptibility loci.

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION (2022)

Article Biology

Clonal transcriptomics identifies mechanisms of chemoresistance and empowers rational design of combination therapies

Sophia A. Wild, Ian G. Cannell, Ashley Nicholls, Katarzyna Kania, Dario Bressan, Gregory J. Hannon, Kirsty Sawicka

Summary: This study utilizes clonal transcriptomics with WILD-seq to analyze mouse models of TNBC and identifies NRF2 as a major mechanism of taxane resistance. It also discovers the collateral sensitivity of tumor models to asparagine deprivation therapy using L-asparaginase after docetaxel treatment.
Article Multidisciplinary Sciences

Obesity-associated changes in molecular biology of primary breast cancer

Ha-Linh Nguyen, Tatjana Geukens, Marion Maetens, Samuel Aparicio, Ayse Bassez, Ake Borg, Jane Brock, Annegien Broeks, Carlos Caldas, Fatima Cardoso, Maxim De Schepper, Mauro Delorenzi, Caroline A. Drukker, Annuska M. Glas, Andrew R. Green, Edoardo Isnaldi, Jorunn Eyfjoro, Hazem Khout, Stian Knappskog, Savitri Krishnamurthy, Sunil R. Lakhani, Anita Langerod, John W. M. Martens, Amy E. McCart Reed, Leigh Murphy, Stefan Naulaerts, Serena Nik-Zainal, Ines Nevelsteen, Patrick Neven, Martine Piccart, Coralie Poncet, Kevin Punie, Colin Purdie, Emad A. Rakha, Andrea Richardson, Emiel Rutgers, Anne Vincent-Salomon, Peter T. Simpson, Marjanka K. Schmidt, Christos Sotiriou, Paul N. Span, Kiat Tee Benita Tan, Alastair Thompson, Stefania Tommasi, Karen Van Baelen, Marc Van de Vijver, Steven Van Laere, Laura van't Veer, Giuseppe Viale, Alain Viari, Hanne Vos, Anke T. Witteveen, Hans Wildiers, Giuseppe Floris, Abhishek D. Garg, Ann Smeets, Diether Lambrechts, Elia Biganzoli, Francois Richard, Christine Desmedt

Summary: Obesity is associated with an increased risk of developing breast cancer and worse prognosis in breast cancer patients. This study investigates the biological differences in untreated primary breast cancer according to patients' body mass index (BMI). The study finds several genomic alterations that are differentially prevalent in overweight or obese patients compared to lean patients. It also reveals an elevated and unresolved inflammation of the breast cancer tumor microenvironment associated with obesity. The findings suggest that patient adiposity may play a significant role in the heterogeneity of breast cancer and should be considered for tailored treatment.

NATURE COMMUNICATIONS (2023)

Article Oncology

Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care

Edwin Cuppen, Olivier Elemento, Richard Rosenquist, Svetlana Nikic, Maarten IJzerman, Isabelle Durand Zaleski, Geert Frederix, Lars-Ake Levin, Charles G. Mullighan, Reinhard Buettner, Trevor J. Pugh, Sean Grimmond, Carlos Caldas, Fabrice Andre, Ilse Custers, Elias Campo, Hans van Snellenberg, Anna Schuh, Hidewaki Nakagawa, Christof von Kalle, Torsten Haferlach, Stefan Froehling, Vaidehi Jobanputra

Summary: The combination of whole-genome and transcriptome sequencing (WGTS) is a comprehensive precision diagnostic test that is expected to transform diagnosis and treatment for cancer patients. However, there are barriers to the implementation and widespread adoption of this test, including considerations of utility in different cancer types, cost-effectiveness and affordability.

JCO PRECISION ONCOLOGY (2022)

Review Oncology

Androgen receptor function and targeted therapeutics across breast cancer subtypes

Emily A. Kolyvas, Carlos Caldas, Kathleen Kelly, Saif S. Ahmad

Summary: Breast cancer is a common and deadly cancer, and the role of AR in this type of cancer is still not fully understood. However, targeting AR in breast cancer may have therapeutic potential and further research is needed for effective treatment.

BREAST CANCER RESEARCH (2022)

Correction Oncology

The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology (vol 3, pg 251, 2022)

David Tamborero, Rodrigo Dienstmann, Maan Haj Rachid, Jorrit Boekel, Adria Lopez-Fernandez, Markus Jonsson, Ali Razzak, Irene Brana, Luigi De Petris, Jeffrey Yachnin, Richard D. Baird, Yohann Loriot, Christophe Massard, Patricia Martin-Romano, Frans Opdam, Richard F. Schlenk, Claudio Vernieri, Michele Masucci, Xenia Villalobos, Elena Chavarria, Judith Balmana, Giovanni Apolone, Carlos Caldas, Jonas Bergh, Ingemar Ernberg, Stefan Frohling, Elena Garralda, Claes Karlsson, Josep Tabernero, Emile Voest, Jordi Rodon, Janne Lehtio

NATURE CANCER (2022)

Article Oncology

PPM1D activity promotes the replication stress caused by cyclin E1 overexpression

Andra S. Martinikova, Miroslav Stoyanov, Anna Oravetzova, Yannick P. Kok, Shibo Yu, Jana Dobrovolna, Pavel Janscak, Marcel van Vugt, Libor Macurek

Summary: Oncogene-induced replication stress is a major cause of genome instability in cancer cells. This study reveals that increased activity of PPM1D exacerbates replication stress caused by cyclin E1 overexpression, leading to abnormal cell cycle progression and accumulation of DNA copy number alterations. Pharmacological inhibition of PPM1D can alleviate replication stress-induced genome instability.

MOLECULAR ONCOLOGY (2024)

Article Oncology

ALDH1A3 promotes invasion and metastasis in triple-negative breast cancer by regulating the plasminogen activation pathway

Alamelu G. Bharadwaj, Meghan E. McLean, Margaret L. Dahn, Hannah F. Cahill, Marie-Claire D. Wasson, Raj Pranap Arun, Olivia L. Walker, Brianne M. Cruickshank, Wasundara Fernando, Jaganathan Venkatesh, Penelope J. Barnes, Gillian Bethune, Gregory Knapp, Lucy K. Helyer, Carman A. Giacomantonio, David M. Waisman, Paola Marcato

Summary: ALDH1A3 regulates the plasminogen activation pathway to promote breast cancer metastasis. Co-expression of ALDH1A3 and tPA is associated with TNBC subtype, high tumor grade, and recurrent metastatic disease.

MOLECULAR ONCOLOGY (2024)

Article Oncology

Plasminogen deficiency suppresses pancreatic ductal adenocarcinoma disease progression

Nayela N. Chowdhury, Yi Yang, Ananya Dutta, Michelle Luo, Zimu Wei, Sara R. Abrahams, Alexey S. Revenko, Fenil Shah, Lindsey A. Miles, Robert J. Parmer, Bas de Laat, Alisa S. Wolberg, James P. Luyendyk, Melissa L. Fishel, Matthew J. Flick

Summary: Pancreatic ductal adenocarcinoma (PDAC) is a highly fatal metastatic disease associated with robust activation of the coagulation and fibrinolytic systems. Primary fibrinolytic protease plasminogen promotes PDAC tumor growth and metastatic potential through engaging plasminogen receptors on tumor cells.

MOLECULAR ONCOLOGY (2024)

Article Oncology

Ovarian cancer relies on the PDGFRβ-fibronectin axis for tumorsphere formation and metastatic spread

Nuria Gendrau-Sanclemente, Agnes Figueras, Kristina Gracova, Alvaro Lahiguera, Elisenda Alsina-Sanchis, Juan A. Marin-Jimenez, August Vidal, Xavier Matias-Guiu, Sergi Fernandez-Gonzalez, Marc Barahona, Lola Marti, Jordi Ponce, Francesc Vinals

Summary: High-grade serous ovarian cancer (HGSOC), the deadliest gynecological malignancy, spreads through transcoelomic dissemination. This study reveals that platelet-derived growth factor receptor beta (PDGFRβ) is essential for the formation of tumorspheres in HGSOC. Inhibition of PDGFRβ blocks the clustering of ovarian cancer cells and prevents peritoneal dissemination.

MOLECULAR ONCOLOGY (2024)