Francesc Balaguer

Francesc Balaguer
Hospital Clínic de Barcelona · Servicio de Gastroenterología

MD PhD AGAF

About

338
Publications
28,270
Reads
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7,842
Citations
Citations since 2017
142 Research Items
4609 Citations
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201720182019202020212022202302004006008001,000

Publications

Publications (338)
Article
Full-text available
Serrated polyposis syndrome (SPS) is one of the most frequent polyposis syndromes characterized by an increased risk for developing colorectal cancer (CRC). Although SPS etiology has been mainly associated with environmental factors, germline predisposition to SPS could also be relevant for cases with familial aggregation or a family history of SPS...
Article
Full-text available
Background and aims Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer. Endoscopy has advanced importantly in the past years, including both detection technology as well as treatment options. For the lower gastrointestinal (GI) tract, current g...
Article
Full-text available
Stage II colorectal cancer (CRC) recurrence remains a clinical problem. Some of these patients are true stage III CRC with a pN0 pathology stage. This large prospective multicentre cohort study aimed at evaluating the diagnostic ability of lymph node (LN) cytology smears to perform the pN stage and compare it with the conventional haematoxylin and...
Article
Full-text available
Background and Aims Patients with early-onset colorectal cancer (eoCRC) are managed according to guidelines that are not age-specific. A multidisciplinary international group (DIRECt), comprised of 69 experts, was convened to develop the first evidence-based consensus recommendations for eoCRC. Methods After reviewing the published literature, a D...
Article
Full-text available
Background: Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohort...
Article
Full-text available
Fecal hemoglobin immunodetection (FIT) in combination with endoscopy has been implemented to reduce mortality from colorectal cancer (CRC), although there are issues that can be improved in relation to participation rates. We studied whether the blood biomarker soluble-CD26 (sCD26), related at least in part to the immune system and inflammation, an...
Article
Background: Individuals with a non-syndromic family history of colorectal cancer are known to have an increased risk. There is an opportunity to prevent early-onset colorectal cancer (age less than 50 years) (EOCRC) in this population. The aim was to explore the proportion of EOCRC that is preventable due to family history of colorectal cancer. Met...
Article
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Background Motorized Spiral Enteroscopy (MSE) reduces procedure time and increases insertion depth into the small bowel; however, there is scarce evidence on factors affecting MSE efficacy. Aims To evaluate diagnostic yield and adverse events of MSE including patients with prior major abdominal surgery. Methods A prospective observational study w...
Article
Resumen Antecedentes El esófago de Barrett (EB) es una entidad con una progresión histológica a malignidad conocida. Los factores de crecimiento insulínico (IGF, de insulin-like growth factor) están involucrados en la carcinogénesis asociada a la obesidad y se han asociado con el riesgo de padecer algunos tipos de cáncer. Objetivos Evaluar los ni...
Article
Background & Aims Early-onset colorectal cancer (EOCRC) is a distinct clinical and molecular entity with poor survival outcomes compared to late onset CRC (LOCRC). Although the incidence of EOCRC is rising, current CRC screening strategies have several limitations in diagnostic performance for EOCRC. In view of this clinical challenge, novel and ro...
Article
Background: Colorectal cancer (CRC) is a potentially life-threatening complication of long-standing ulcerative colitis (UC). MicroRNAs are epigenetic regulators that have been involved in the development of UC associated CRC. However, their role as potential mucosal biomarkers of neoplastic progression has not been adequately studied. Methods: I...
Article
Serrated Polyposis Syndrome (SPS) is associated with a high risk for colorectal cancer. Intense promoter hypermethylation is a frequent molecular finding in the serrated pathway and may be present in normal mucosa predisposing to the formation of serrated lesions. To identify novel biomarkers for SPS, fresh frozen samples of normal mucosa from 50 p...
Preprint
Full-text available
Objective The clinical relevance of the serrated pathway of colorectal carcinogenesis is evident but the screening of serrated lesions remains challenging. We aimed to characterize the serum methylome of the serrated pathway, and to evaluate circulating cell-free DNA (cfDNA) methylation as a source of biomarkers for the non-invasive screening and d...
Article
Full-text available
Regulatory changes occurring early in colorectal cancer development remain poorly investigated. Since the majority of cases develop from polyps in the adenoma-carcinoma transition, a search of early molecular features, such as aberrations in miRNA expression occurring prior to cancer development, would enable identification of potentially causal, r...
Article
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Background and study aims Fujifilm has developed a novel ELUXEO 7000 endoscope system that employs light-emitting diodes (LEDs) at four different wavelengths as light sources that enable blue light imaging (BLI), linked color imaging (LCI), and high-definition white-light endoscopy (HD-WLE). The aim of this study was to address the diagnostic accur...
Article
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Purpose The Spanish Early-onset Colorectal Cancer (SECOC) study is a multicentre prospective cohort established in Spain to investigate the molecular basis of early-onset colorectal cancer (EOCRC), including metabolic alterations. Participants 220 patients with EOCRC have been enrolled since January 2019 through 18 centres across Spain. Individu...
Article
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Background: Small bowel adenocarcinoma (SBA) is a rare disease which can be associated with Lynch syndrome (LS). LS tumors are characterized by the presence of microsatellite instability (MSI) and/or the loss of mismatch repair (MMR) protein expression. In SBA, the frequency of MMR deficient (MMRd) tumors varies from 5% to 35%. This study aims to...
Article
Full-text available
Cancer vaccines are a type of immune therapy that seeks to modulate the host’s immune system to induce durable and protective immune responses against cancer-related antigens. The little clinical success of therapeutic cancer vaccines is generally attributed to the immunosuppressive tumor microenvironment at late-stage diseases. The administration...
Article
Background and study aims: current guidelines recommend genetic counseling and intensive colonoscopy surveillance for patients with ≥10 colorectal adenomas based on scarce data. We investigated the prevalence of this condition in a FIT (fecal immunochemical test)-based colorectal (CRC) screening program and the incidence of metachronous lesions du...
Article
Purpose: DNA methylation alterations have emerged as front-runners in cell-free DNA (cfDNA) biomarker development. However, much effort to date has focused on single cancers. In this context, gastrointestinal (GI) cancers constitute the second leading cause of cancer-related deaths worldwide; yet there is no blood-based assay for the early detectio...
Article
Background: Colectomy and proctocolectomy are the initial standard of care for patients with familial adenomatous polyposis. Pharmacotherapy to prevent progression of polyposis and surgeries in the lower gastrointestinal tract would be beneficial to patients with this disease. Objective: This analysis aimed to evaluate the impact of eflornithine...
Article
Full-text available
Background: Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences...
Article
Full-text available
Gastric adenocarcinoma (GC) is a common tumor with high morbidity and mortality. Only 7% of patients with GC are diagnosed before age 50 (early onset gastric cancer (EOGC)), and their characteristics have been poorly described. We aimed to describe clinical, molecular, and genetic characteristics of EOGC. A total of 309 patients with EOGC were retr...
Preprint
Full-text available
Background: Regulatory changes occurring early in colorectal cancer development remain poorly investigated. Since the majority of cases develop from polyps in the adenoma-carcinoma pathway, a search of early molecular features, such as aberrations in miRNA expression occurring prior to cancer development, would enable identification of potentially...
Article
Full-text available
Background & Aims We recently reported use of tissue-based transcriptomic biomarkers (miRNA or mRNA) for identification of lymph node metastasis (LNM) in patients with invasive submucosal colorectal cancers (T1 CRC). In this study, we translated our tissue-based biomarkers into a blood-based liquid biopsy assay for noninvasive detection of LNM in p...
Article
Full-text available
Early-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50, accounts for 10–12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data indicate that EOCRC incidence is increasing, despite the observed heterogeneity among countries. Although the cause for such increase remains obscure, ≈13% (range: 9–26%) of EO...
Article
Full-text available
Objective Despite regular colonoscopy surveillance, colorectal cancers still occur in patients with Lynch syndrome. Thus, detection of all relevant precancerous lesions remains very important. The present study investigates Linked Colour imaging (LCI), an image-enhancing technique, as compared with high-definition white light endoscopy (HD-WLE) for...
Article
Full-text available
Lynch-like syndrome (LLS) is an increasingly common clinical challenge with an underlying molecular basis mostly unknown. To shed light onto it, we focused on a very young LLS early-onset colorectal cancer (CRC) cohort (diagnosis ≤ 40 y.o.), performing germline and tumor whole-exome sequencing (WES) of 15 patients, and additionally analyzing their...
Article
Introduction: Molecular lymph node (LN) staging in early colorectal cancer (CRC) has demonstrated to be more precise than conventional histopathology pN staging. Tumor budding (TB) and poorly differentiated clusters (PDCs) are associated with LN metastases, recurrences, and lower survival in CRC. We evaluated the correlation between the total tumo...
Article
Full-text available
The serrated polyposis syndrome (SPS) is the most common and yet underdiagnosed colorectal polyposis syndrome. It is characterized by multiple and/or large colonic serrated polyps and a higher associated risk for colorectal cancer (CRC). The main objective of this study was to identify new candidate genes involved in the germline predisposition to...
Article
Full-text available
The genetic cause for several families with gastric cancer (GC) aggregation is unclear, with marked relevance in early-onset patients. We aimed to identify new candidate genes involved in GC germline predisposition. Whole-exome sequencing (WES) of germline samples was performed in 20 early-onset GC patients without previous germline mutation identi...
Article
Background and study aim: The 'diagnose-and-leave-in' policy has been established to reduce risks and costs related to unnecessary polypectomies in the average-risk population. In Lynch syndrome individuals, due to accelerated carcinogenesis, the general recommendation is to remove all polyps, irrespective of size, location and appearance. We eval...
Article
Full-text available
Patients with adenomatous polyposis, usually defined as patients with >10 adenomatous polyps in the colorectum, are at increased risk for colorectal cancer (CRC). Since surgical and endoscopic treatment do not completely eliminate the potential for future polyps or extraintestinal neoplasms, there is an unmet medical need to identify pharmacologica...
Article
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Background Population-based organized screening programmes for colorectal cancer (CRC) are underway worldwide, with many based on the faecal immunochemical test (FIT). No clinical trials assessing FIT compared with no screening are planned, and few studies have assessed the population impact of such programmes. Methods Before 2010, 11 out of 50 Sp...
Article
Background and aims Colonoscopy reduces colorectal (CRC) incidence and mortality in Lynch syndrome (LS) carriers. However, a high incidence of post-colonoscopy CRC (PCCRC) has been reported. Colonoscopy is highly dependent on operator skill and subject to quality variability. We aimed to evaluate the impact of key colonoscopy quality indicators on...
Article
Full-text available
During the last 20 years, chemotherapy has improved survival rates of colorectal cancer (CRC). However, the majority of metastatic cases do not respond to or progress after first line conventional chemotherapy and contribute to the fatalities of patients with CRC. Insights into the immune contexture of the tumor microenvironment (TME) have enabled...
Article
Full-text available
The use of epithelial cell adhesion molecule (EPCAM) immunohistochemistry (IHC) is not included in the colorectal cancer (CRC) screening algorithm to detect Lynch syndrome (LS) patients. The aim of the present study was to demonstrate that EPCAM IHC is a useful tool to guide the LS germ-line analysis when a loss of MSH2 expression was present. We r...
Article
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Background: Colon capsule endoscopy (CCE) and CT colonography (CTC) are minimally invasive techniques for colorectal cancer (CRC) screening. Our objective is to compare CCE and CTC for the identification of patients with colorectal neoplasia among participants in a CRC screening programme with positive faecal immunochemical test (FIT). Primary out...
Article
Background: The efficacy and safety of combination therapy with eflornithine and sulindac, as compared with either drug alone, in delaying disease progression in patients with familial adenomatous polyposis are unknown. Methods: We evaluated the efficacy and safety of the combination of eflornithine and sulindac, as compared with either drug alo...
Article
Full-text available
Accumulating evidence supports the fact that mere presence of mucinous differentiation in colorectal cancer (CRC), rather than its proportion, is a more accurate representative of a particular CRC subtype with distinct clinical and molecular features. In addition, the prognostic significance of mucinous carcinoma (MC) subtype remains poorly underst...
Article
Full-text available
Lynch syndrome is the most common colorectal cancer (CRC) hereditary form and it is characterized by DNA mismatch repair (MMR) deficiency. The term Lynch-like syndrome (LLS) is used for patients with MMR-deficient tumors and neither germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM, nor MLH1 somatic methylation. Biallelic somatic inactivation o...
Article
Full-text available
The identification of high-risk groups of gastric (GC) and pancreatic adenocarcinoma (PC) due to a hereditary basis could imply a benefit in the affected families by establishing personalized preventive strategies. We aimed at assessing the diagnostic yield of GC/PC hereditary syndromes in individuals evaluated based on specific clinical criteria....
Conference Paper
Purpose: In view of high cancer-specificity, DNA methylation alterations have emerged as front-runners in biomarker development, especiy as cell-free DNA (cf-DNA) biomarkers for early detection of cancer. However, much effort to date has focused on developing cancer type-specific biomarkers, but have not explored the possibility of developing a pan...
Article
Full-text available
Lynch syndrome (LS) is a common cause of hereditary colorectal cancer (CRC). Some CRC patients develop mismatch repair deficiency without germline pathogenic mutation, known as Lynch-like syndrome (LLS). We compared the risk of CRC in first-degree relatives (FDRs) in LLS and LS patients. LLS was diagnosed when tumors showed immunohistochemical loss...
Article
The set of measures proposed by SEPD, AEEH, GETECCU and AEG are aimed to help departments in their resumption of usual activity. We have prepared a number of practical recommendations regarding patient management and the stepwise resumption of healthcare activity. These recommendations are based on the sparse, changing evidence available, and will...
Article
Full-text available
The World Health Organization (WHO) recently updated the diagnostic criteria for serrated polyposis syndrome (SPS). One of the three previous diagnostic criteria (criterion II²⁰¹⁰) is now abandoned: ≥ 1 serrated polyp (SP) proximal to the sigmoid in a first-degree relative (FDR) of a patient with SPS. Individuals fulfilling this abandoned criterion...
Article
Full-text available
RESUMEN El artículo recoge el conjunto de medidas propuestas por la SEPD, la AEEH, GETECCU y la AEG que pretenden servir de ayuda a los servicios en su reincorporación a la actividad habitual. Hemos confeccionado una serie de recomendaciones prácticas respecto al manejo y a la reintroducción progresiva de la actividad asistencial. Estas recomendaci...
Article
The set of measures proposed by SEPD, AEEH, GETECCU and AEG are aimed to help departments in their resumption of usual activity. We have prepared a number of practical recommendations regarding patient management and the stepwise resumption of healthcare activity. These recommendations are based on the sparse, changing evidence available, and will...
Article
Full-text available
Background Serrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic predisposition is largely unknown. Common, low-penetrance genetic variants have been consistently associated with CRC susceptibility, h...