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Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer

ABSTRACT: Correct identification of Lynch syndrome at the time of colorectal cancer presentation is important. We aim to find best ways to screen patients with colorectal cancer in Korea.

DISEASE(S): Colonic Neoplasms

PROVIDER: 2043211 | ecrin-mdr-crc |

REPOSITORIES: ECRIN MDR

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Distinct tumorigenic pathways within hereditary nonpolyposis colorectal cancer

Project description:Gene expression profiling has discriminated between sporadic microsatellite instable (MSI) and microsatellite stable (MSS) colorectal cancers (CRCs), whereas the expression pattern of familial colorectal cancer type X (FCCTX) and Lynch syndrome (LS) associated CRCs remain largely unknown. The purpose of this study is to use gene expression profiling of formalin-fixed paraffin-embedded (FFPE) tumor specimens from FCCTX, LS and sporadic CRC as a control to detect expression patterns and to identify signaling pathways differing between FCCTX and LS tumors.

2012-03-08 | GSE36335 | GEO

Distinct tumorigenic pathways within hereditary nonpolyposis colorectal cancer

2012-03-08 | E-GEOD-36335 | biostudies-arrayexpress

Diagnosing hereditary cancer predisposition in men with prostate cancer.

Project description:PurposeWe describe the pathogenic variant spectrum and identify predictors of positive results among men referred for clinical genetic testing for prostate cancer.MethodsOne thousand eight hundred twelve men with prostate cancer underwent clinical multigene panel testing between April 2012 and September 2017. Stepwise logistic regression determined the most reliable predictors of positive results among clinical variables reported on test requisition forms.ResultsA yield of 9.4-12.1% was observed among men with no prior genetic testing. In this group, the positive rate of BRCA1 and BRCA2 was 4.6%; the positive rate for the mismatch repair genes was 2.8%. Increasing Gleason score (odds ratio [OR] 1.19; 95% confidence interval [CI] 0.97-1.45); personal history of breast or pancreatic cancer (OR 3.62; 95% CI 1.37-9.46); family history of breast, ovarian, or pancreatic cancer (OR 2.32 95% CI 1.48-3.65); and family history of Lynch syndrome-associated cancers (OR 1.97; 95% CI 1.23-3.15) were predictors of positive results.ConclusionThese results support multigene panel testing as the primary genetic testing approach for hereditary prostate cancer and are supportive of recommendations for consideration of germline testing in men with prostate cancer. Expanding the criteria for genetic testing should be considered as many pathogenic variants are actionable for treatment of advanced prostate cancer.

| S-EPMC7462744 | biostudies-literature

Expression data from pancreatic cancers patients and healthy controls

Project description:For the identification of miRNA biomarker of pancreatic cancer, total RNA containing miRNA was extracted from the serum samples using Affymetrix miRNA 4.0 and the serum miRNA purification kit (Genolution, Seoul, Korea)

2016-10-30 | GSE85589 | GEO

A comprehensive comparison of differential accessibility analysis methods for ATAC-seq data

Project description:Background: ATAC-seq is widely used to measure the chromatin accessibility and identify the open chromatin regions (OCRs). OCRs usually indicate the active regulatory elements in the genome and are directly associated with gene regulatory networks. Identification of differential accessibility regions (DARs) between different biological conditions is critical to measure the differential activity of regulatory elements. Differential analysis of ATAC-seq shares many similarities to differential expression analysis of RNA-seq data. However, the distribution of ATAC-seq signal is different from RNA-seq data, and higher sensitivity is desired for DARs identification. Many different tools can be used to perform differential analysis of ATAC-seq data, but a comprehensive comparison and benchmarking of these methods is still missing. Methods: Here, we used simulated datasets to systematically measure the sensitivity and specificity of 6 different methods. We further discussed the statistical and signal density cutoff in the differential analysis of ATAC-seq by applying to real data. Batch-effect is very common in high-throughput sequencing experiments. Results: We illustrated that batch-effect correction can dramatically improve the sensitivity in differential analysis of ATAC-seq data. Finally, we developed an easily usable package, BeCorrect, to perform batch-effort correction for visualizing corrected ATAC-seq signals on a genome browser. Conclusions: It is important to use PCA to check the samples distribution, and the Remove Unwanted Variation strategy can be used to correct the data to improve the sensitivity when strong batch effects are found in the data. Finally, BeCorrect can be used to correct the batch-effect of ATAC-seq data signal based on DARs analysis, and generate a proper visualization on a genome browser.

2020-06-29 | GSE131144 | GEO

Transcription profiling of human primary B-cell vs monocyte-derived dendritic cells

Project description:Genome-wide RNAi screen reveals new pathways for MHC class II antigen presentation

2010-12-18 | E-MTAB-192 | biostudies-arrayexpress

Genomic profiling of colorectal cancer from patients with Lynch syndrome and Familial colorectal cancer type X with comparison to sporadic microsatelite stable and instable colorectal cancer

Project description:Lynch syndrome and Familial colorectal cancer type X (FCCTX) are clinically diagnosed using the same criteria, but genomic differences exist between these two groups and the genomic profiles share similarities with their sporadic counterparts, mismatch repair (MMR) deficient and proficient tumors, respectively. Array-based comparative genomic hybridization was performed on 91 tumors, comprising 23 Lynch syndrome (AH), 23 FCCTX (AA), 23 sporadic MMR deficient (AM) and 22 sporadic MMR proficient tumors, in order to identify differences between Lynch syndrome and FCCTX.

2012-06-01 | E-GEOD-38405 | biostudies-arrayexpress

Clinicopathological analysis of mismatch repair protein deficient colorectal cancer and its usefulness for identification of Lynch syndrome patients

Project description:Interventions: genetic testing for Lynch syndrome Primary outcome(s): its usefulness for identification of Lynch syndrome patients Study Design: Single arm Non-randomized

| 2629163 | ecrin-mdr-crc

Effective methods for bulk RNA-seq deconvolution using scnRNA-seq transcriptomes

Project description:This SuperSeries is composed of the SubSeries listed below.

2023-04-27 | GSE220608 | GEO

Expression of immune-related genes in the normal colorectal mucosa and colorectal carcinoma samples from Lynch syndrome individuals

Project description:Colorectal carcinomas arising in the context of Lynch syndrome, the most common inherited cancer syndrome, typically show deficiency of the DNA MMR (mismatch repair) system. Lack of functional MMR leads to accumulation of frameshift mutations at micosatellites (microsatellite instability, MSI). High load of highly immunogenic tumor-specific frameshift neoantigens results in strong immune response against Lynch syndrome MSI cancers. Previous studies have shown systemic immune responses against frameshift neoantigens in Lynch syndrome carriers long before tumor manifestation. In the present study, we analyzed the immune profile of normal colorectal mucosa in Lynch syndrome carriers without current or previous cancer history and in Lynch syndrome colorectal cancer patients, as well as of Lynch syndrome colorectal carcinomas. The unsupervised cluster analysis of gene expression data revealed a sharp differentiation between normal mucosa from Lynch syndrome individuals with and without manifest cancer as well as between normal mucosa in general and Lynch syndrome cancer tissue. Deconvolution analysis for predicting the prevalence of immune cell population among the three groups revealed 10 out of 14 investigated populations to be significantly different between the three tissue types (FDR=10%). In contrast to normal mucosa samples, tumor tissue showed overrepresentation of immune-suppressive cell populations, such as regulatory T cells and neutrophils. Taken together with the quantitative T cell density analysis on the basis of immunohistochemical T cell stainings, our data show strong immune infiltration of the normal colorectal mucosa in Lynch syndrome individuals even in the absence of a manifest cancer.

2022-03-14 | GSE178516 | GEO

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