Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer
Esther H. Lips,T. Kumar,Anargyros Megalios,Lindy L. Visser,Michael Sheinman,Angelo Fortunato,Vandna Shah,Marlous Hoogstraat,Emi Sei,Diego Mallo,Maria Roman-Escorza,Ahmed A Elmgeed Ahmed,Mingchu Xu,Alexandra W. van den Belt-Dusebout,Wim Brugman,Anna Casasent,Karen Clements,Helen Davies,Liping Fu,Anita Grigoriadis,Timothy Hardman,Lorraine M. King,Marielle Krete,Petra Kristel,Michiel de Maaker,Carlo C. Maley,Jeffrey R. Marks,Brian A. Menegaz,L. Mulder,Frank Nieboer,Salpie Nowinski,Sarah E Pinder,Jelmar Quist,Carolina Salinas-Souza,Michael Schaapveld,M. P. Schmidt,Abeer M Shaaban,Rana Shami,Mathini Sridharan,John Zhang,Hilary Stobart,Deborah Collyar,Serena Nik-Zainal,Lodewyk F. A. Wessels,E. Shelley Hwang,Nicholas Navin,P. Andrew Futreal,Jos Jonkers,Jacco,Fariba Behbod,Daniel Rea,Proteeti Bhattacharjee,Donna Pinto,Ellen Verschuur,M. van Oirsouw,Alastair M. Thompson,Jelle Wesseling,Elinor J. Sawyer +57 more
Reads0
Chats0
TLDR
In this article , the authors performed genomic analyses on the initial DCIS lesion and paired invasive recurrent tumors in 95 patients together with single-cell DNA sequencing in a subset of cases.Abstract:
Ductal carcinoma in situ (DCIS) is the most common form of preinvasive breast cancer and, despite treatment, a small fraction (5-10%) of DCIS patients develop subsequent invasive disease. A fundamental biologic question is whether the invasive disease arises from tumor cells in the initial DCIS or represents new unrelated disease. To address this question, we performed genomic analyses on the initial DCIS lesion and paired invasive recurrent tumors in 95 patients together with single-cell DNA sequencing in a subset of cases. Our data show that in 75% of cases the invasive recurrence was clonally related to the initial DCIS, suggesting that tumor cells were not eliminated during the initial treatment. Surprisingly, however, 18% were clonally unrelated to the DCIS, representing new independent lineages and 7% of cases were ambiguous. This knowledge is essential for accurate risk evaluation of DCIS, treatment de-escalation strategies and the identification of predictive biomarkers. read more
Citations
More filters
Journal ArticleDOI
Molecular classification and biomarkers of clinical outcome in breast ductal carcinoma in situ: Analysis of TBCRC 038 and RAHBT cohorts.
Siri H. Strand,Belén Rivero-Gutiérrez,Kathleen E. Houlahan,Jose A. Seoane,Lorraine M. King,Tyler Risom,Lunden Simpson,Sujay Vennam,Aziz Khan,Luis Cisneros,Timothy Hardman,Bryan E. Harmon,Fergus J. Couch,Kristalyn K. Gallagher,Mark R. Kilgore,Shicheng Wei,Angela DeMichele,Tari A. King,Priscilla F. McAuliffe,Julie R. Nangia,Joanna S Lee,Jennifer F. Tseng,Anna Maria Storniolo,Alastair M. Thompson,Gaorav P. Gupta,Robyn Burns,Deborah J. Veis,Katherine DeSchryver,Chunfang Zhu,Magdalena Matusiak,Jason Wang,Shirley Zhu,Jennifer Tappenden,Da Ding,Dadong Zhang,Jingqin Luo,Shu Jiang,Sushama Varma,Lauren Anderson,Cody Straub,Sucheta A. Srivastava,Christina Curtis,Robert Tibshirani,Robert M. Angelo,Allison Hall,Kouros Owzar,Kornelia Polyak,Carlo C. Maley,Jeffrey R. Marks,Graham A. Colditz,E. Shelley Hwang,Robert West +51 more
TL;DR: In this paper , a multiscale integrated molecular profiling of DCIS with clinical outcomes was performed by analyzing 774 DCIS samples from 542 patients with 7.3 years median follow-up from the Translational Breast Cancer Research Consortium 038 study and the Resource of Archival Breast Tissue cohorts.
Journal ArticleDOI
The presentation, management and outcome of patients with ductal carcinoma in situ (DCIS) with microinvasion (invasion ≤1 mm in size)—results from the UK Sloane Project
Abeer M Shaaban,Bridget Hilton,Karen Clements,David Dodwell,Nisha Sharma,Cliona C. Kirwan,Elinor J. Sawyer,Anthony J. Maxwell,Matthew G. Wallis,Hilary Stobart,Senthurun Mylvaganam,J.C. Litherland,Samantha Brace-McDonnell,Joanna Dulson-Cox,Olive Kearins,Elena Provenzano,Ian O. Ellis,Sarah E Pinder,Alastair M. Thompson +18 more
TL;DR: In this paper , the outcomes of patients with DCIS with and without micro-invasion diagnosed between 2003 and 2012 within the Sloane project were analyzed, with a considerable variation in reported incidence among screening units (0-25%), with microinvasion associated with high grade DCIS, larger DCIS size, comedo necrosis and solid, cribriform architecture.
Journal ArticleDOI
Nanoengineering a Zeolitic Imidazolate Framework-8 Capable of Manipulating Energy Metabolism against Cancer Chemo-Phototherapy Resistance.
Shuaijun Lu,Hailong Tian,Lei Li,Bowen Li,Mei Yang,Li Zhou,Hao Jiang,Qiong Li,Weihua Wang,Edouard C. Nice,Nancy Xie,Canhua Huang,Lin Liu +12 more
TL;DR: A chondroitin sulfate (CS)-functionalized zeolitic imidazolate framework-8 (ZIF-8) chemo-phototherapy nanoplatform is rationally designed that is capable of manipulating energy metabolism against cancer therapeutic resistance by integrating the photosensitizer IR780 iodide (IR780)-conjugated atovaquone (ATO) (A780) and the chemotherapeutic agent doxorubicin (DOX).
Journal ArticleDOI
Molecular Signatures in Ductal Carcinoma In Situ (DCIS): A Systematic Review and Meta-Analysis
TL;DR: In this article , the impact of adjuvant radiotherapy (RT) after breast-conserving surgery (BCS) for ductal carcinoma in situ (DCIS) is debated as benefits are inconstant.
References
More filters
Journal ArticleDOI
The Sequence Alignment/Map format and SAMtools
Heng Li,Bob Handsaker,Alec Wysoker,T. J. Fennell,Jue Ruan,Nils Homer,Gabor T. Marth,Gonçalo R. Abecasis,Richard Durbin +8 more
TL;DR: SAMtools as discussed by the authors implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments.
Journal ArticleDOI
Fast gapped-read alignment with Bowtie 2
TL;DR: Bowtie 2 combines the strengths of the full-text minute index with the flexibility and speed of hardware-accelerated dynamic programming algorithms to achieve a combination of high speed, sensitivity and accuracy.
Journal ArticleDOI
Complex heatmaps reveal patterns and correlations in multidimensional genomic data
TL;DR: The power of ComplexHeatmap is demonstrated to easily reveal patterns and correlations among multiple sources of information with four real-world datasets.
Journal ArticleDOI
Circular binary segmentation for the analysis of array-based DNA copy number data.
TL;DR: A modification ofbinary segmentation is developed, which is called circular binary segmentation, to translate noisy intensity measurements into regions of equal copy number in DNA sequence copy number.
Journal ArticleDOI
From Louvain to Leiden: guaranteeing well-connected communities
TL;DR: In this article, the authors show that the Louvain algorithm may yield arbitrarily badly connected communities and, in the worst case, communities may even be disconnected, especially when running the algorithm iteratively.