Publications
2026
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The Tumor Microenvironment Score and Its Subsite-Specific Relevance in Colon Cancer
Colon cancer is a major global malignancy with significant mortality. Right-sided (RCC) and left-sided colon cancers (LCC) exhibit distinct clinicopathological characteristics. Tumor microenvironment score (TMS) combines Klintrup-Mäkinen grade, tumor stroma percentage, and tumor budding, classifying cases into 4 groups (TMS 0-3). Evaluation of TMS is an integrative method for prognostic classification; however, further validation is needed, and differences between RCC and LCC remain unclear. A... -
Epithelial interferon-stimulated gene programs modulate chemotherapy sensitivity in colorectal cancer via EPSTI1
Although chemotherapy in colorectal cancer (CRC) primarily targets epithelial tumor cells, the epithelial cell-intrinsic mechanisms underlying heterogeneous treatment responses remain poorly understood. We integrated the genomic, transcriptomic, and in vitro drug response profiles of CRC patient-derived tumor organoids (PDTOs) with functional assays to identify epithelial cell-intrinsic determinants of chemotherapy response. An epithelial interferon-stimulated gene (ISG) program, reflecting... -
Treatment of localized rectal cancer in the Nordic countries-comparison of Nordic to Dutch, ESMO, and NCCN guidelines
CONCLUSION: Although all guidelines rely on the same evidence, there are considerable differences, especially in the indications and type of oncologic treatment, both in the neoadjuvant and in the adjuvant setting. -
Incidence Rates of Melanoma and Lung Cancer Are Generally Low in the Lynch Syndromes and Vary Across <em>path_MMR</em> Variants: A Prospective Lynch Syndrome Database Report
Background/Objectives It is not established whether melanoma and lung cancer are part of the tumor spectrum of the Lynch syndromes (LS). Our first hypothesis was that, if melanoma is associated with LS, most prospectively observed cases would be carriers of pathogenic MSH2 variants (path_MSH2), as for other LS non-endodermal tumors. Our second hypothesis, which was derived from findings of the first study, was that the pattern of differences in the incidence of lung cancer in path_MMR carriers... -
Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial
BACKGROUND: In CAPP2, 600 mg aspirin daily significantly reduced the incidence of colorectal cancer and the incidence of all Lynch syndrome cancers among participants with Lynch syndrome. CaPP3 aimed to assess the efficacy of two lower doses of aspirin. -
Tumor-Infiltrating Basophils Are Associated With Improved Prognosis in Colorectal Cancer
CONCLUSIONS: Tumor-infiltrating basophils seem to be associated with favorable clinicopathological features and potentially improved CRC outcomes, suggesting that basophils may contribute to the tumor microenvironment. -
Tumor Invasive Border Index (TIBI) in colorectal cancer: linking infiltrative morphology to molecular insights
Tumor border configuration influences colorectal cancer (CRC) prognosis, yet its molecular determinants remain unclear and existing assessment criteria have faced challenges with reproducibility. We introduce the Tumor Invasive Border Index (TIBI), a novel and reproducible method that quantifies the proportion of tumor stroma and adipose tissue within a hotspot at the deepest point of invasion. TIBI was evaluated in two CRC cohorts (n = 1,100 and n = 776) and analyzed in relation to tumor and... -
Precision tumor-on-chip for personalized assessment of drug efficacy and immune cell delivery
Tumor heterogeneity and drug resistance limit the efficacy of cancer therapies and highlight the need for patient-specific preclinical models. Here, we develop a microfluidic tumor-on-chip (TOC) platform that integrates patient-derived organoids with a functional endothelial barrier and utilizes liquid flow to recreate drug delivery from the vasculature into tumor tissue. This system enables evaluation of therapeutic efficacy and toxicity under physiologically relevant conditions. Additionally,... -
ESGO Consensus Statement on endometrial cancer prevention, risk reduction strategies, and management of women with Lynch syndrome
Lynch syndrome (LS) is a hereditary condition associated with an increased susceptibility to developing cancer, primarily colorectal and gynaecological cancer (endometrial cancer and ovarian cancer). The European Society of Gynaecological Oncology (ESGO) nominated fifteen practicing multidisciplinary clinicians with expertise in this field and ten gynaecological and oncological fellows with interest in the topics to develop evidence-based statements, sharing and standardizing the management of... -
Sex-Based Differences in Circulating microRNA and Metabolite Signatures Associated with Physical Activity in Lynch Syndrome Carriers
Lynch syndrome (LS) carriers face a high cancer risk, especially colorectal cancer. Although physical activity (PA) is known to reduce cancer risk in LS, it remains unclear whether this protective effect varies by sex and which molecular mechanisms underlie it. This study aimed to use an integrated omics approach to examine molecular mechanisms associated with PA in LS, focusing on sex-specific differences and links to cancer-related processes. We profiled serum sample-based circulating...
2025
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Impact of stromal maturity and proportion on prognosis and immune landscape in colorectal cancer
CONCLUSIONS: TSR and DR are independent prognostic factors for cancer-specific survival. SMAPS is a promising prognostic tool that integrates stromal maturity at the invasive margin and stromal proportion in the tumour centre. SMAPS has stronger prognostic value compared to TSR and DR classifications alone. A high stromal proportion and myxoid content are associated with an immunosuppressive microenvironment characterized by lower densities of antitumourigenic immune cells. -
Urothelium marker UPK2 identifies aggressive colorectal cancers with distinct molecular and histological features
CONCLUSIONS: UPK2 marks a distinct subset of CRCs with poor prognosis, epithelial-mesenchymal transition, micropapillary growth, and squamous differentiation. These findings may affect the development of targeted therapies in precision medicine. -
Skin cancer risk in hereditary mixed cancer syndromes
Hereditary cancer syndromes are genetic conditions that increase an individual's risk for multiple cancer types, often due to mutations that affect critical cellular processes such as DNA repair and cell cycle regulation. Skin cancers, including malignant melanoma (MM), basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and related precancerous lesions may be underrecognized in some hereditary cancer syndromes, as suggested by underlying biological mechanisms and their underreporting in... -
PTEN status, tumor immune microenvironment, and survival in colorectal cancer
Phosphatase and tensin homolog (PTEN) is a tumor suppressor involved in cell proliferation, DNA repair, apoptosis, and cell cycle regulation. Its loss has been linked to worse prognosis and poor immune therapy response in several cancers, but findings in colorectal cancer (CRC) have been inconsistent. This study aims to evaluate the prognostic value of PTEN expression and its relationship with the tumor immune microenvironment in two large CRC cohorts (combined N = 2303). PTEN expression was... -
Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer
Lynch syndrome (LS) is a hereditary condition characterized by defective DNA mismatch repair and a high incidence of several cancers. In this study, we investigate the somatic landscape of LS-associated urothelial cancer (LS-UC) by analyzing 41 tumor and 3 urine samples from 34 patients with LS-UC. We show that telomerase reverse transcriptase (TERT) promoter mutations found in 83% of sporadic UC are almost absent (5%) in LS-UC. Instead, LS-UC carries a 5-methylcytosine-deamination- (CG>TG) and... -
Significance of Th1 and Th2 Cell Densities and Th1/Th2 Cytokine Profiles in Colorectal Cancer
CONCLUSIONS: This study supports the prognostic significance of Th1 and Th2 cells in colorectal cancer. Mesenteric serum levels of Th-related cytokines may contribute to or reflect the tumor-associated Th1/Th2 response. -
Integrative omics approaches to uncover liquid-based cancer-predicting biomarkers in Lynch syndrome
Lynch syndrome is a genetic cancer-predisposing syndrome caused by pathogenic mutations in DNA mismatch repair (path_MMR) genes. Due to the elevated cancer risk, novel screening methods, alongside current surveillance techniques, could enhance cancer risk stratification. Here we show how bi-omics integration could be utilized to pinpoint potential cancer-predicting biomarkers in Lynch syndrome. We studied which blood-based circulating microRNAs and metabolites could predict Lynch syndrome cancer... -
Colorectal cancer heterogeneity co-evolves with tumor architecture to determine disease outcome
Intratumoral heterogeneity, originating from genetic, epigenetic, and phenotypic cellular diversity, is pervasive in cancer. As these heterogeneous states employ diverse mechanisms to promote tumor progression, metastasis, and therapy resistance, emergence of cancer heterogeneity is one of the most significant barriers to curative treatment. Here we leverage deep learning approaches to develop a high-throughput image-analysis paradigm with subcellular resolution that quantifies and predicts... -
Genome-wide DNA methylation profiles of colorectal tumors in Lynch syndrome and familial adenomatous polyposis
CONCLUSIONS: Genome-wide DNA methylation changes are an integral part of FAP and LS-associated colorectal tumorigenesis. Occurrence at early stages, even in non-neoplastic colonic mucosa, and increased prevalence with progressive dysplasia suggest a role in tumor development. Overlap of many of the topmost DNA methylation alterations between LS and FAP, and previous reports of their occurrence in sporadic colorectal and other tumors as well, imply their broad biological relevance and possible... -
Characteristics and significance of γδ T cells in colorectal cancer
Gamma-delta T cells are a subset of T cells that have features of both innate and adaptive immunity. Their role in cancer remains controversial, since both anti- and protumor functions have been reported. We aimed to shed light on the distinct characteristics of γδ T cells in colorectal cancer (CRC). In two independent cohorts, including 1 687 CRC patients, we identified γδ and αβ T cells with multiplex immunohistochemistry to evaluate their prognostic significance. To further analyze the...
2024
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The impact of preoperative treatments on the immune environment of rectal cancer
To improve local disease control, the use of preoperative radiotherapy either alone or combined with chemotherapy has become standard practice in rectal cancer, but it is unclear how these treatments modify the antitumoral immune response. We aimed to evaluate tumor histopathologic features and the prognostic effect of host immune response in rectal cancer with variable treatment modalities. Ninety-five rectal cancers with short-course radiotherapy (SRT), 97 with long-course chemoradiotherapy... -
Patient-derived Organoid Pharmacotyping as a Predictive Tool for Therapeutic Selection in Pancreatic Ductal Adenocarcinoma
CONCLUSIONS: In vitro PDO pharmacotyping can inform pancreatic ductal adenocarcinoma therapy selection. We demonstrate improved outcomes including survival for patients treated with regimens well-matched to their PDO chemosensitivities. A subsequent prospective study using PDO pharmacotype matching could improve oncologic outcomes and improve quality of life by avoiding therapies not expected to be effective. -
Establishing Criteria for Tumor Necrosis as Prognostic Indicator in Colorectal Cancer
Tumor necrosis has been reported to represent an independent prognostic factor in colorectal cancer, but its evaluation methods have not been described in sufficient detail to introduce tumor necrosis evaluation into clinical use. To study the potential of tumor necrosis as a prognostic indicator in colorectal cancer, criteria for 3 methods for its evaluation were defined: the average percentage method (tumor necrosis percentage of the whole tumor), the hotspot method (tumor necrosis percentage... -
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort
Some 50% of Finnish Lynch Syndrome (LS) cases are caused by a founder variant in MLH1, in which the entire exon 16 has been lost due to an Alu-mediated recombination event. We piloted detecting the variant in FinnGen, a large genotyped cohort comprising approximately 10% of the current Finnish population, and validated the MLH1 founder variant status of identified individuals residing in the Central Finland Biobank catchment area. A consensus sequence flanking the deletion was identified in... -
In vivo CRISPR screening identifies geranylgeranyl diphosphate as a pancreatic cancer tumor growth dependency
CONCLUSIONS: These findings indicate that PDAC tumors selectively require GGPP over other lipids such as cholesterol and fatty acids and that this is a targetable vulnerability of pancreatic cancer cells. -
High immune cell infiltration predicts improved survival in cholangiocarcinoma
CONCLUSION: Identifying patient subgroups that could benefit from immunotherapy with PD-1/PD-L1 pathway blockade may help improve treatment strategies for this aggressive cancer. Our findings highlight the importance of evaluating the immune contexture in cholangiocarcinoma, as ICS serves as a strong independent prognostic and selective factor for patients who might benefit from immunotherapy. -
In vivo CRISPR screening identifies geranylgeranyl diphosphate as a pancreatic cancer tumor growth dependency
Cancer cells must maintain lipid supplies for their proliferation and do so by upregulating lipogenic gene programs. The sterol regulatory element-binding proteins (SREBPs) act as modulators of lipid homeostasis by acting as transcriptional activators of genes required for fatty acid and cholesterol synthesis and uptake. SREBPs have been recognized as chemotherapeutic targets in multiple cancers, however it is not well understood which SREBP target genes are essential for tumorigenesis. Using... -
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision
CONCLUSION: These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed... -
Transfer Learning Reveals Cancer-Associated Fibroblasts Are Associated with Epithelial-Mesenchymal Transition and Inflammation in Cancer Cells in Pancreatic Ductal Adenocarcinoma
Pancreatic ductal adenocarcinoma (PDAC) is an aggressive malignancy characterized by an immunosuppressive tumor microenvironment enriched with cancer-associated fibroblasts (CAF). This study used a convergence approach to identify tumor cell and CAF interactions through the integration of single-cell data from human tumors with human organoid coculture experiments. Analysis of a comprehensive atlas of PDAC single-cell RNA sequencing data indicated that CAF density is associated with increased... -
Circulating miRNA Signature Predicts Cancer Incidence in Lynch Syndrome-A Pilot Study
Lynch syndrome (LS) is the most common autosomal dominant cancer syndrome and is characterized by high genetic cancer risk modified by lifestyle factors. This study explored whether a circulating miRNA (c-miR) signature predicts LS cancer incidence within a 4-year prospective surveillance period. To gain insight how lifestyle behavior could affect LS cancer risk, we investigated whether the cancer-predicting c-miR signature correlates with known risk-reducing factors such as physical activity,...
2023
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Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement
The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an "average sex "or a pathogenic variant in an "average Lynch syndrome... -
Editorial: Identification, risk stratification, and optimized management for Lynch Syndrome
No abstract -
Tertiary lymphoid structures in pulmonary metastases of microsatellite stable colorectal cancer
Tertiary lymphoid structures (TLSs) are ectopic lymphoid aggregates located at sites of chronic inflammation and recognized as prognosticators in several cancers. We aimed to analyse the prognostic effect of TLSs in colorectal cancer (CRC) pulmonary metastases and primary tumours, with a comparison to the CD3^(+) and CD8^(+) cell density-based immune cell score (ICS). For TLS density and TLS maximum diameter analysis, 67 pulmonary metastases and 63 primary tumours were stained with haematoxylin... -
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
BACKGROUND: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for... -
Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review
CONCLUSION: Several germline conditions predispose to colorectal, gastric, and pancreatic cancer, which inform identification, surveillance regimens, prevention, cascade screening, counselling, and surgical management. The authors describe developments in the hereditary origin of colorectal, gastric, and pancreatic cancer with current recommendations in surveillance and surgical management. -
Immunological and prognostic significance of tumour necrosis in colorectal cancer
CONCLUSIONS: Our results support the value of tumour necrosis as a prognostic factor in colorectal cancer. CXCL8 may have a role in the systemic effects of tumour necrosis. -
Spatially resolved multimarker evaluation of CD274 (PD-L1)/PDCD1 (PD-1) immune checkpoint expression and macrophage polarisation in colorectal cancer
CONCLUSIONS: PD-L1^(+) macrophages show distinct polarisation profiles (more M1-like), spatial features (greater co-localisation with tumour cells and PD-1^(+) T cells), and associations with favourable clinical outcome. Our comprehensive multimarker assessment could enhance the understanding of immune checkpoints in the tumour microenvironment and promote the development of improved immunotherapies. -
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity
Lynch syndrome (LS) is the most common hereditary cancer syndrome. Early diagnosis improves prognosis and reduces health care costs, through existing cancer surveillance methods. The problem is finding and diagnosing the cancer predisposing genetic condition. The current workup involves a complex array of tests that combines family cancer history and clinical phenotypes with tumor characteristics and sequencing data, followed by a challenging task to interpret the found variant(s). On the basis... -
The prognostic role of tumor budding and tumor-stroma ratio in pulmonary metastasis of colorectal carcinoma
CONCLUSION: Tumor budding and TSR in the resected pulmonary metastases of CRC showed no statistically significant prognostic value, however, additional well-powered confirmatory studies are needed. -
Clinical characteristics of pancreatic and biliary tract cancers in Lynch syndrome: A retrospective analysis from the Finnish National Lynch Syndrome Research Registry
CONCLUSION: Although the survival of LS patients with PC or BTC is better than in sporadic cancers, it is still poor and may be reflected by the relatively higher surgical resectability accounted for by the earlier age of onset. More studies on analyses of the molecular and immune profile, screening, and management of LS-associated pancreaticobiliary cancers are warranted.
2022
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CD3<sup>+</sup> and CD8<sup>+</sup> T-Cell-Based Immune Cell Score and PD-(L)1 Expression in Pulmonary Metastases of Microsatellite Stable Colorectal Cancer
The objective of this study was to evaluate the prognostic value of CD3^(+) and CD8^(+) based immune cell score (ICS), programmed death -1 (PD-1) and programmed death ligand -1 (PD-L1) in pulmonary metastases of proficient mismatch repair colorectal cancer (CRC) patients. A total of 101 pulmonary metastases and 62 primary CRC tumours were stained for CD3^(+), CD8^(+), PD-1 and PD-L1 expression. The prognostic value of ICS, PD-1/PD-L1 expression in 67 first pulmonary metastases and 61 primary CRC... -
Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines
CONCLUSIONS: The DIRECt group produced the first consensus recommendations on eoCRC. All statements should be considered together with the accompanying comments and literature reviews. We highlighted areas where research should be prioritized. These guidelines represent a useful tool for clinicians caring for patients with eoCRC. -
Systemic circulating microRNA landscape in Lynch syndrome
Circulating microRNAs (c-miRs) are small noncoding RNA molecules that migrate throughout the body and regulate gene expression. Global c-miR expression patterns (c-miRnomes) change with sporadic carcinogenesis and have predictive potential in early detection of cancers. However, there are no studies that have assessed whether c-miRnomes display similar potential in carriers of inherited pathogenic mismatch-repair gene variants (path_MMR), known as Lynch syndrome (LS), who are predisposed to... -
A simple approach for detecting HLA-A*02 alleles in archival formalin-fixed paraffin-embedded tissue samples and an application example for studying cancer immunoediting
The HLA system represents a central component of the antigen presentation machinery. As every patient possesses a defined set of HLA molecules, only certain antigens can be presented on the cell surface. Thus, studying HLA type-dependent antigen presentation can improve the understanding of variation in susceptibility to various diseases, including infectious diseases and cancer. In archival formalin-fixed paraffin-embedded (FFPE) tissue, the HLA type is difficult to analyze because of... -
Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
ABSTRACT: The CAPP2 trial investigated the long-term effects of aspirin and resistant starch on cancer incidence in patients with Lynch syndrome (LS). Participants with LS were randomized double-blind to 30 g resistant starch (RS) daily or placebo for up to 4 years. We present long-term cancer outcomes based on the planned 10-year follow-up from recruitment, supplemented by National Cancer Registry data to 20 years in England, Wales, and Finland. Overall, 463 participants received RS and 455... -
Prognostic significance of spatial and density analysis of T lymphocytes in colorectal cancer
CONCLUSIONS: The spatial point pattern analysis of tumour cell-T cell co-localisation could provide detailed information on colorectal cancer prognosis, supporting the value of spatial measurement of T cell infiltrates as a novel, robust tumour-immune biomarker. -
Precision Medicine in Pancreatic Cancer: Patient-Derived Organoid Pharmacotyping Is a Predictive Biomarker of Clinical Treatment Response
CONCLUSIONS: PDOs established from tissues obtained from patients previously receiving cytotoxic chemotherapies can be accomplished in a clinically certified laboratory. Sequencing PDOs following biomass expansion improves clinical sequencing quality. High in vitro sensitivity to standard-of-care chemotherapeutics predicts good clinical response to systemic chemotherapy in PDAC. See related commentary by Zhang et al., p. 3176. -
Response to Chambuso et al
No abstract -
The prognostic value of extramural venous invasion in preoperative MRI of rectal cancer patients
CONCLUSION: In MRI, circumferential margin ≤1 mm is a risk factor for local recurrence, but the risk is quite well controlled with chemoradiotherapy and extended surgery. Extramural venous invasion instead is a significant risk factor for poorer DFS and new tools to reduce the systemic recurrence risk are needed. -
The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients
CONCLUSIONS: LS carriers show elevated mucosal T-cell infiltration even in the absence of cancer. The normal mucosa immune profile may be a temporary or permanent tumor risk modifier in LS carriers.
2021
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The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients
CONCLUSIONS: LS carriers show elevated mucosal T-cell infiltration even in the absence of cancer. The normal mucosa immune profile may be a temporary or permanent tumor risk modifier in LS carriers. -
Solving for Chemotherapeutic Sensitivity: Adapting "Black Box" Methods to Study Patient-Derived Tumor Organoids
No abstract -
Immunoprofiles and DNA Methylation of Inflammatory Marker Genes in Ulcerative Colitis-Associated Colorectal Tumorigenesis
Immunological and epigenetic changes are interconnected and contribute to tumorigenesis. We determined the immunoprofiles and promoter methylation of inflammation-related genes for colitis-associated colorectal carcinomas (CA-CRC). The results were compared with Lynch syndrome (LS)-associated colorectal tumors, which are characterized by an active immune environment through inherited mismatch repair defects. CA-CRCs (n = 31) were immunohistochemically evaluated for immune cell scores (ICSs) and... -
Towards evidence-based personalised precision medicine for Lynch syndrome
No abstract -
Can Pancreatic Organoids Help in the Treatment of Pancreatic Cancer?
No abstract -
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <em>MLH1</em> and <em>MSH2</em>: A Prospective Lynch Syndrome Database Study
CONCLUSION: Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2. -
Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance
Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing and high-throughput coding microsatellite (cMS) analysis, in 28... -
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
BACKGROUND: Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the mean age-specific cumulative risk (penetrance) of colorectal cancer for all carriers of pathogenic variants in the same gene. We aimed to estimate the variation in the penetrance of colorectal cancer between carriers of pathogenic variants in the same gene by sex and continent of residence. -
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
CONCLUSION: The recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of colorectal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus (at least 80 per cent) are presented. -
Impact of Age and Comorbidity on Multimodal Management and Survival from Colorectal Cancer: A Population-Based Study
This retrospective population-based study examined the impact of age and comorbidity burden on multimodal management and survival from colorectal cancer (CRC). From 2000 to 2015, 1479 consecutive patients, who underwent surgical resection for CRC, were reviewed for age-adjusted Charlson comorbidity index (ACCI) including 19 well-defined weighted comorbidities. The impact of ACCI on multimodal management and survival was compared between low (score 0-2), intermediate (score 3) and high ACCI...