Search results for "Sequencing"
showing 10 items of 1087 documents
Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers
2019
BACKGROUND: Approximately 4% of colorectal cancer (CRC) patients have at least two simultaneous cancers in the colon. Due to the shared environment, these synchronous CRCs (SCRCs) provide a unique setting to study colorectal carcinogenesis. Understanding whether these tumours are genetically similar or distinct is essential when designing therapeutic approaches. METHODS: We performed exome sequencing of 47 primary cancers and corresponding normal samples from 23 patients. Additionally, we carried out a comprehensive mutational signature analysis to assess whether tumours had undergone similar mutational processes and the first immune cell score analysis (IS) of SCRC to analyse the interplay…
Tumor mutational burden on cytological samples: A pilot study.
2020
Background Immune-checkpoint inhibitors (ICIs) represent an important treatment option for patients who have advanced stage non-small cell lung cancer (NSCLC). Currently, evaluation of the expression level of programmed death-ligand 1 (PD-L1) has proven highly successful as a positive predictive biomarker for ICIs. In addition to PD-L1, other promising predictive biomarkers are emerging, including high tumor mutational burden (TMB-H). However, measuring TMB-H remains challenging for several reasons, among which is the difficulty in obtaining adequate tissue material from NSCLC patients. There are no data in the current literature regarding the possibility of adopting cell blocks (CBs) for T…
The association between dermoscopic features and BRAF mutational status in cutaneous melanoma: Significance of the blue-white veil.
2018
Background: The genetic basis of melanoma affects its clinicopathologic characteristics and increasingly influences its management. B-Raf proto-oncogene, serine/threonine kinase gene (BRAF)-mutated melanoma may present with specific dermoscopic features. Objectives: To identify the dermoscopic features associated with BRAF mutation in cutaneous melanoma and to evaluate a model capable of predicting BRAF mutations on the basis of dermoscopic and clinicopathologic features that are easily accessible in normal clinical practice. Methods: A prospective, cross-sectional, observational, and descriptive study was performed. A total of 93 cutaneous melanomas with dermoscopic images from 93 patients…
The presence of genomic imbalances is associated with poor outcome in patients with burkitt lymphoma treated with dose-intensive chemotherapy includi…
2015
Part of this study has been reported as an oral presentation at the EHA Meeting in Vienna 2015.
Heterogeneity of KRAS, NRAS, BRAF and PIK3CA mutations in metastatic colorectal cancer and potential effects on therapy in the CAPRI GOIM trial
2015
Background: Evidence suggests that metastatic colorectal carcinoma (mCRC) has a high level of intratumor heterogeneity. We carried out a quantitative assessment of tumor heterogeneity for KRAS, NRAS, BRAF and PIK3CA mutations, in order to assess potential clinical implications. Patients and methods: Tumor samples (n = 182) from the CAPRI-GOIM trial of first-line cetuximab + FOLFIRI in KRAS exon-2 wild-type mCRC patients were assessed by next-generation sequencing that allows quantitative assessment of mutant genes. Mutant allelic frequency was normalized for the neoplastic cell content and, assuming that somatic mutations usually affect one allele, the Heterogeneity Score (HS) was calculate…
Myelodysplastic Syndromes with 20q Deletion: Incidence, Prognostic Value and Impact on Response to Azacitidine of ASXL1 Chromosomal Deletion and Gene…
2020
Introduction : The 20q deletion [del(20q)] is a recurrent chromosomal aberration in myelodysplastic syndromes (MDS) and, as a single abnormality, is associated according to the Revised International Prognostic Scoring System (IPSS-R) with a favorable outcome. However, the breakpoint of del(20q) is very heterogeneous and may cause deletion of the ASXL1 gene (20q11.21). This gene is an important epigenetic regulator of hematopoiesis and its mutations have been associated in MDS with a shorter overall survival (OS) and a lower response to azacitidine (AZA). Aim: To assess the incidence, prognostic value and impact on response to AZA of ASXL1 chromosomal alterations and genetic mutations in MDS…
464P Exome sequencing of ctDNA portrays the mutational landscape of patients with relapsing colon cancer and indicates new actionable targets
2021
Liquid Biopsy in Gynecological Cancers
2017
Gynecological cancers originate in woman’s reproductive organs, including ovarian, uterine or endometrial, cervical, vulvar, and vaginal cancers. These tumors are a leading health problem for women accounting for more than 20% of new cases and cancer-related deaths worldwide. Gynecological cancers are characterized by an aggressive biological behavior with a clinical presentation often in advanced stage of disease. This chapter will focus on the potential role of the novel molecular approaches based on liquid biopsy in detecting occult disease, monitoring the progression and identifying treatment-resistance in gynecological cancer patients. The ability to detect circulating tumor DNA (ct-DN…
Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Dia…
2019
Circulating tumor DNA (ctDNA) has emerged as a non-invasive &ldquo
Hundreds of nuclear and plastid loci yield novel insights into orchid relationships.
2021
Pérez-Escobar, Oscar Alejandro, Dodsworth, Steven, Bogarín, Diego, Bellot, Sidonie, Balbuena, Juan A, Schley, Rowan J, Kikuchi, Izai A, Morris, Sarah K, Epitawalage, Niroshini, Cowan, Robyn, Maurin, Olivier, Zuntini, Alexandre, Arias, Tatiana, Serna-Sánchez, Alejandra, Gravendeel, Barbara, Torres Jimenez, Maria Fernanda, Nargar, Katharina, Chomicki, Guillaume, Chase, Mark W, Leitch, Ilia J, Forest, Félix, Baker, William J (2021): Hundreds of nuclear and plastid loci yield novel insights into orchid relationships. American journal of botany 108 (7): 1166-1180, DOI: http://doi.org/10.5281/zenodo.7778176