278 results for "study_type:"exome sequencing" AND repository:ega"

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• Germline WES of serrated polyposis syndrome

  The serrated polyposis syndrome (SPS) is a disease with a mainly unknown inherited genetic basis characterized by the presence of multiple and/or large serrated polyps in the colon and a higher associated risk for colorectal cancer (CRC). The objective of the present study was to identify new SPS/CRC germline predisposition genes by using whole-exome sequencing in two affected SPS patients from the same family.

  Study EGAS50000000765

• TRACERx NSCLC - Whole exome multiregion sequencing data

  Study EGAS00001006494

• Mechanisms of resistance to pembrolizumab treatment in classical Hodgkin Lymphoma

  In this project we are applying whole exome sequencing (WES) on plasma-derived ctDNA samples to identify mutations that drive resistance to pembrolizumab treatment in classical Hodgkin Lymphoma

  Study EGAS50000001985

• Familial Melanoma Sequencing

  In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.

  Study EGAS00001000017

• Spatial atlas of diffuse large B-cell lymphoma

  We leveraged highly multiplexed, single-cell–resolution spatial transcriptomics, bulk RNA sequencing, and tumor–germline paired whole-exome sequencing to profile 465 diffuse large B-cell lymphoma (DLBCL) tumors and define the assembly of 60 lymphoma microenvironment (LME) cell subsets and 5 tumor B cell states into conserved spatial niches and communities that resemble non-malignant lymphoid architecture. Three distinct LME-enriched communities were assembled from combinations of niches and reflected recently described LME archetypes with conserved spatial biology. Tumor B cells were enriched in three B communities harboring distinct, developmentally linked, transcriptional states associated with divergent cell-cell communication (CCC) pathways. Intratumoral heterogeneity in B communities was pervasive across patients and largely unlinked with molecular subtype. Combinations of B communities, rather than single states, were associated with patient outcome, implicating microenvironment-associated tumor B cell transcriptional plasticity in the biology and clinical behavior of DLBCL.

  Study EGAS50000002036

• Whole Exome Sequencing

  ASTEROID Phase 1 trial of combination IAP inhibitor ASTX660 and pembrolizumab. Matched tumour biopsies and PBMCs were sequenced.

  Study EGAS50000002044

• Analysis of Somatic Mutations from Liquid Biopsy-Derived cfDNA in Advanced Cancers

  This study aims to identify somatic mutations and characterize potential neoantigens for immunotherapeutic targeting using paired whole-exome sequencing (WES) of germline DNA and plasma-derived circulating cell-free DNA (cfDNA) from patients with advanced-stage cancers.

  Study EGAS50000001169

• Exome sequencing

  Exome sequencing of patient tumor biopsy, cfDNA and normal PBMC DNA samples

  Study EGAS50000001170

• Whole-Exome Sequencing in Mexican Patients with Testicular Germ Cell Tumors

  In this study, we performed whole-exome sequencing in 40 clinically well-characterized Mexican patients with testicular germ cell tumors. Paired tumor and peripheral blood samples were analyzed to characterize the genomic landscape, including both single nucleotide variants (SNVs) and copy number variations (CNVs).

  Study EGAS50000001721

• DKTK Organoid Platform: A multicentric living biobank for functionalizing patient-derived organoids and model clinical outcomes

  To enable the generation of harmonized and well annotated PDTO cohorts across national institutions, the German Cancer Consortium (DKTK) has established the Strategic Initiative Organoid Platform. For the MetPredict cohort, individual PDTOs were generated from spatially distinct liver metastases of colorectal cancer. To study the molecular inter-metastatic heterogeneity, samples were submitted to whole exome sequencing.

  Study EGAS50000002045

• High grade serous ovarian cancer germline exome sequencing

  This cohort includes matched germline samples from the same patient cohort. Germline DNA was isolated from whole blood and normal tissue for whole exome sequencing.

  Study EGAS50000001730

• High grade serous ovarian cancer tumor exome sequencing

  Whole exome sequencing data generated from 25 human high grade serous ovarian cancer (HGSOC) specimens. These data were used to characterize somatic mutations, copy number alterations, and genomic features. Raw sequencing data are provided as BAM files.

  Study EGAS50000001731

• WES sequencing to characterize ALK

  This exome sequencing study aims to investigate the impact of the K1150dup mutation on lorlatinib progression and to explore potential therapeutic strategies to overcome resistance.

  Study EGAS50000001778

• Whole exome sequencing of mesothelioma FFPE tumors and paired samples.

  This study focus on the genomic alterations occurred on the exonic regions for mesothelioma.

  Study EGAS50000001813

• Whole Exome sequencing of Baseline biopsies

  Whole exome sequencing of BAseline CHC-noHCC and CHC-HCC biopsies.

  Study EGAS50000001096

• Targeting vulnerabilities in IDH mutant tumours: The model matters WES study

  Introduction: Synthetic lethal interactions with IDH1 and IDH2 (IDH) mutations were identified in non-endogenous IDH mutant (IDHmut) AML and glioma models, but are absent in endogenous IDHmut chondrosarcoma cell lines. The translation into successful clinical applications has remained challenging, implying artificially created models do not fully recapitulate endogenous IDHmut tumour biology. The aim of this study was to elucidate if the model system is indeed an important factor to consider when studying therapeutic vulnerabilities in IDHmut tumours. Methods: Vector-based and CRISPR-Cas9 approaches were used to introduce or revert the IDH1 mutation in chondrosarcoma cell lines. These isogenic cell line pairs were used to examine the presence of known therapeutic vulnerabilities and their underlying biological mechanisms. Results: Vector-based IDHmut chondrosarcoma models showed the previously reported synthetic lethal interactions, but these treatment sensitivities were absent in the CRISPR-edited models. Interestingly, not all vector-based IDHmut cell lines displayed the same therapeutic vulnerabilities. Differences in treatment response were associated with multiple factors, including IDHmut protein expression and D-2-HG levels, in line with the fact that therapeutic vulnerabilities could be induced in the CRISPR-edited models by enhancing D-2-HG levels. Conclusion: Our findings demonstrate that synthetic lethal interactions observed in vector-based models are often a consequence of IDHmut protein overexpression and supra-physiological D-2-HG levels. These results highlight that relying on artificially created IDHmut models may lead to the identification of therapeutic vulnerabilities that are not present in IDHmut tumours, potentially explaining the poor translation of preclinical findings to clinical trials.

  Study EGAS50000001870

• Recurrent/Metastatic Adenoid Cystic Carcinoma Treated with Axitinib and Avelumab

  Data from patients with adenoid cystic carcinoma treated with combination of VEGFR inhibitor axitinib and anti-PD-L1 avelumab. Eligible patients had R/M ACC with progression within 6 months before enrollment. The primary end point was objective response rate (ORR) per RECIST 1.1; secondary end points included progression-free survival (PFS), overall survival (OS), and toxicity. The study reached its primary end point with ≥4 PRs in 28 evaluable patients (confirmed ORR of 18%).

  Study EGAS50000001714

• Utility of whole exome sequencing for genomic newborn screening in India

  This study evaluates the use of genomic newborn screening to identify clinically relevant genetic variants in critically ill neonates. The project aims to investigate the potential of whole-exome sequencing (WES) for the early identification of rare genetic disorders. The study seeks to improve early diagnosis and support timely clinical management of neonates with suspected genetic conditions.

  Study EGAS50000002069

• Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders

  This study aimed to comprehensively characterize the full spectrum of small genetic variation among 920 unrelated donors from this population based on whole-exome sequencing data to further develop CIRdb as the Canary Islanders-specific reference catalog of genetic variation.

  Study EGAS50000001726

• Arcagen - Gynecologic cancer domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here we are submitting the dataset that contain NGS files from patients with rare ovarian cancer and primary peritoneal cancer and/or fallopian-tube cancer, including low grade serous carcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma; and other rare cancers such as sex cord tumors, germ cell tumor, yolk sac tumor, and malignant/immature teratoma (n=94).

  Study EGAS50000000900

• Arcagen – thoracic malignancies

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here we are submitting the dataset that contain NGS files from rare thoracic malignancies (n=102)

  Study EGAS50000000123

• Arcagen - Skin cancer domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here we are submitting the dataset that contain NGS files patients diagnosed with adnexal carcinoma of the skin, Merkel cells cancer, and malignant melanoma of the uvea (n=49).

  Study EGAS50000000491

• Arcagen – Adrenal and Thyroid cancers domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here were are submitting the dataset that contains NGS files from patients with adrenocortical carcinoma, pheochromocytoma, anaplastic thyroid cancer, medullary thyroid cancer and radioiodine refractory thyroid cancer (n=103).

  Study EGAS50000000626

• Arcagen – Cancer of unknown Primary domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here we are submitting the dataset that contain NGS files patients diagnosed with a locally advanced or metastatic Cancer of Unknown Primary (n=96).

  Study EGAS50000000177

• Arcagen - Head and Neck domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here were are submitting the dataset that contains NGS files from patients with salivary gland tumors of major salivary gland; salivary gland type tumors of head and neck with a strong focus on acinic cell carcinoma, NUT carcinoma and sinus carcinoma (n=102).

  Study EGAS50000000625