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Article
Improving diagnostic accuracy of identifying gastric cancer patients with peritoneal metastases: tumor-guided cell-free DNA analysis of peritoneal fluid
Detection of peritoneal dissemination (PD) in gastric cancer (GC) patients remains challenging. The feasibility of tumor-guided cell-free DNA (cfDNA) detection in prospectively collected peritoneal fluid (asci...
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Article
Open AccessEnrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
Colibactin, a genotoxin produced by polyketide synthase harboring (pks+) bacteria, induces double-strand breaks and chromosome aberrations. Consequently, enrichment of pks+Escherichia coli in colorectal cancer an...
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Article
Open AccessReal-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas
Previous studies in patients with mature B-cell lymphomas (MBCL) have shown that pathogenic TP53 aberrations are associated with inferior chemotherapeutic efficacy and survival outcomes. In solid malignancies, p5...
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Article
Open AccessLoss of bone morphogenetic protein signaling in fibroblasts results in CXCL12-driven serrated polyp development
Mutations in Bone Morphogenetic Protein (BMP) Receptor (BMPR)1A and SMAD4 are detected in 50% of juvenile polyposis syndrome (JPS) patients, who develop stroma-rich hamartomatous polyps. The established role of s...
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Article
Somatic hits in mismatch repair genes in colorectal cancer among non-seminoma testicular cancer survivors
Non-seminoma testicular cancer survivors (TCS) have an increased risk of develo** colorectal cancer (CRC) when they have been treated with platinum-based chemotherapy. Previously we demonstrated that among H...
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Open AccessAuthor Correction: Mutational analysis of driver genes defines the colorectal adenoma: in situ carcinoma transition
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Open AccessAuthor Correction: Mutational analysis of driver genes defines the colorectal adenoma: in situ carcinoma transition
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Article
Open AccessCell-of-origin classification using the Hans and Lymph2Cx algorithms in primary cutaneous large B-cell lymphomas
Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) and primary cutaneous follicle center lymphoma with a diffuse population of large cells (PCFCL-LC) are both primary cutaneous B-cell lymph...
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Article
Open AccessMutational analysis of driver genes defines the colorectal adenoma: in situ carcinoma transition
A large proportion of colorectal carcinomas (CRC) evolve from colorectal adenomas. However, not all individuals with colonic adenomas have a risk of CRC substantially higher than those of the general populatio...
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Article
Statin use is associated with a reduced incidence of colorectal cancer expressing SMAD4
Long-term use of statins is associated with a small reduced risk of colorectal cancer but their mechanism of action is not well understood. While they are generally believed to act on KRAS, we have previously ...
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Article
Open AccessUse of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients
In addition to classic germline APC gene variants, APC mosaicism and deep intronic germline APC variants have also been reported to be causes of adenomatous polyposis. In this study, we investigated 80 unexplaine...
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Article
Open AccessRobust detection of translocations in lymphoma FFPE samples using targeted locus capture-based sequencing
In routine diagnostic pathology, cancer biopsies are preserved by formalin-fixed, paraffin-embedding (FFPE) procedures for examination of (intra-) cellular morphology. Such procedures inadvertently induce DNA ...
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Article
Open Access“The leading role of pathology in assessing the somatic molecular alterations of cancer: Position Paper of the European Society of Pathology”: letter to the Editor
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Article
Open AccessComprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing
Acute myeloid leukemia (AML) is caused by genetic aberrations that also govern the prognosis of patients and guide risk-adapted and targeted therapy. Genetic aberrations in AML are structurally diverse and cur...
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Article
Targeted next generation sequencing screening of Lynch syndrome in Tunisian population
A high colorectal cancer (CRC) incidence is observed in Tunisia, with a relatively high proportion of patients develo** CRC before the age of 40. While this suggests a genetic susceptibility, only a few Tuni...
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Article
Open AccessRecommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics
Next-generation sequencing (NGS) panel analysis on DNA from formalin-fixed paraffin-embedded (FFPE) tissue is increasingly used to also identify actionable copy number gains (gene amplifications) in addition t...
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Article
Open AccessSNP association study in PMS2-associated Lynch syndrome
Lynch syndrome (LS) patients are at high risk of develo** colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studie...
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Article
Open AccessExcluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer
Patients synchronously or metachronously presenting with ovarian and colon cancer can pose diagnostic challenges. A primary colon carcinoma can metastasize to one or both ovaries, two independent primary tumor...
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Open AccessErratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
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Open AccessEvidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders.
