scholarly journals Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma

2021 ◽  
Author(s):  
Riccardo Moia ◽  
Chiara Favini ◽  
Valentina Ferri ◽  
Gabriela Forestieri ◽  
Lodovico Terzi Di Bergamo ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Small Lymphocytic Lymphoma ◽  
Circulating Tumour Dna ◽  
Disease Profiling

scholarly journals Development of circulating tumour DNA analysis for gastrointestinal cancers

ESMO Open ◽  
2020 ◽  
Vol 5 (Suppl 1) ◽  
pp. e000600 ◽  
Author(s):  
Yoshiaki Nakamura ◽  
Kohei Shitara
Keyword(s):  
Dna Analysis ◽  
Residual Disease ◽  
Turnaround Time ◽  
Resistance Mechanisms ◽  
Detection Methods ◽  
Comprehensive Genomic Profiling ◽  
Gi Cancers ◽  
Ctdna Analysis ◽  
Next Generation Sequencing Ngs ◽  
Circulating Tumour Dna

Comprehensive genomic profiling using next-generation sequencing (NGS) enables the identification of multiple genomic biomarkers established in advanced gastrointestinal (GI) cancers. However, tissue-based NGS has limitations, such as long turnaround time and failure to detect tumour heterogeneity. Recently, the analysis of circulating tumour DNA (ctDNA) using polymerase chain reaction-based or NGS-based methods has demonstrated the capability to detect genomic alterations with high accuracy compared with tumour tissue analysis with short turnaround time and identify heterogeneous resistance mechanisms. Furthermore, ctDNA analysis can be repeatedly performed on disease progression to clarify resistant clones. Clinical trials that test the outcome of a selected targeted therapy based on a ctDNA result are ongoing to prospectively evaluate the clinical utility of ctDNA analysis. Furthermore, the improvement of ctDNA analysis beyond current technical limits of mutation-based ctDNA detection methods has expanded the potential for detecting the presence of tumours in patients with no clinically evident disease, such as minimal residual disease and early cancer. Although a careful understanding of the advantages and limitations are required and further prospective studies are needed, the ctDNA analysis has the potential to overcome several challenges in the treatment of various types of cancers at all stages, including GI cancers.

scholarly journals Circulating tumour DNA analysis in multiple myeloma

Oncotarget ◽  
2017 ◽  
Vol 8 (53) ◽  
pp. 90610-90611 ◽  
Author(s):  
Sridurga Mithraprabhu ◽  
Andrew Spencer
Keyword(s):  
Multiple Myeloma ◽  
Dna Analysis ◽  
Circulating Tumour Dna

scholarly journals Circulating tumour DNA analysis predicts relapse following resection in stage II and III melanoma

2018 ◽  
Vol 29 ◽  
pp. viii14-viii15
Author(s):  
L. Tan ◽  
S.K. Sandhu ◽  
R. Lee ◽  
J. Li ◽  
J. Callahan ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Stage Ii ◽  
Circulating Tumour Dna

scholarly journals Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial

2020 ◽  
Vol 21 (10) ◽  
pp. 1296-1308 ◽  
Author(s):  
Nicholas C Turner ◽  
Belinda Kingston ◽  
Lucy S Kilburn ◽  
Sarah Kernaghan ◽  
Andrew M Wardley ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Advanced Breast Cancer ◽  
Dna Analysis ◽  
Advanced Breast ◽  
Circulating Tumour Dna

scholarly journals Genomic profile of advanced breast cancer in circulating tumour DNA

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Belinda Kingston ◽  
Rosalind J. Cutts ◽  
Hannah Bye ◽  
Matthew Beaney ◽  
Giselle Walsh-Crestani ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Advanced Breast Cancer ◽  
Dna Analysis ◽  
Advanced Breast ◽  
Genomic Profile ◽  
Resistance Mutations ◽  
Poor Overall Survival ◽  
Er Positive ◽  
Circulating Tumour Dna ◽  
Positive Breast Cancer

AbstractThe genomics of advanced breast cancer (ABC) has been described through tumour tissue biopsy sequencing, although these approaches are limited by geographical and temporal heterogeneity. Here we use plasma circulating tumour DNA sequencing to interrogate the genomic profile of ABC in 800 patients in the plasmaMATCH trial. We demonstrate diverse subclonal resistance mutations, including enrichment of HER2 mutations in HER2 positive disease, co-occurring ESR1 and MAP kinase pathway mutations in HR + HER2− disease that associate with poor overall survival (p = 0.0092), and multiple PIK3CA mutations in HR + disease that associate with short progression free survival on fulvestrant (p = 0.0036). The fraction of cancer with a mutation, the clonal dominance of a mutation, varied between genes, and within hotspot mutations of ESR1 and PIK3CA. In ER-positive breast cancer subclonal mutations were enriched in an APOBEC mutational signature, with second hit PIK3CA mutations acquired subclonally and at sites characteristic of APOBEC mutagenesis. This study utilises circulating tumour DNA analysis in a large clinical trial to demonstrate the subclonal diversification of pre-treated advanced breast cancer, identifying distinct mutational processes in advanced ER-positive breast cancer, and novel therapeutic opportunities.

scholarly journals Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma

2018 ◽  
Vol 19 (7) ◽  
pp. 1858 ◽  
Author(s):  
Sridurga Mithraprabhu ◽  
Shreerang Sirdesai ◽  
Maoshan Chen ◽  
Tiffany Khong ◽  
Andrew Spencer
Keyword(s):  
Multiple Myeloma ◽  
Disease Burden ◽  
Dna Analysis ◽  
Circulating Tumour Dna

Circulating tumour DNA analysis demonstrates spatial mutational heterogeneity that coincides with disease relapse in myeloma

Leukemia ◽  
2016 ◽  
Vol 31 (8) ◽  
pp. 1695-1705 ◽  
Author(s):  
S Mithraprabhu ◽  
T Khong ◽  
M Ramachandran ◽  
A Chow ◽  
D Klarica ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Disease Relapse ◽  
Circulating Tumour Dna
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