Lucía Pérez–Carbonell

Universitat Jaume I

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Cristina Alenda

Hospital General Universitario de Alicante Doctor Balmis

Cecilia Egoavil

Hospital General Universitario de Alicante Doctor Balmis

Antoni Castells

Universitat de Barcelona

Rodrigo Jover

Hospital General Universitario de Alicante Doctor Balmis

Carla Guarinós

Centro Andaluz de Biología Molecular y Medicina Regenerativa

Artemio Payá

Hospital General Universitario de Alicante Doctor Balmis

José Luís Soto

Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana

Adela Castillejo

Universidad de Sevilla

Estefanía Rojas

Hospital General Universitario de Alicante Doctor Balmis

Francesc Balaguer

Universitat de Barcelona

Cooperative Institutions

Hospital General Universitario de Alicante Doctor Balmis

Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas

Instituto de investigación sanitaria y biomédica de Alicante

Hospital General Universitario de Elche

Complexo Hospitalario Universitario A Coruña

Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana

University Health Network

Bellvitge University Hospital

University of Toronto

Instituto de Salud Carlos III

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Sa1897 Novel Evidence for Interleukin-8 (IL-8) As a Predictive Biomarker of Response to 5fluorouracil Based Chemotherapy in Colorectal Cancer

Gastroenterology (2014)

Lucía Pérez–Carbonell Cecilia Egoavil Estefanía Rojas Cristina Alenda María Rodríguez‐Soler

10.1016/s0016-5085(14)61166-5

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Additional Value of Patient-Reported Symptom Monitoring in Cancer Care: A Systematic Review of the Literature

Cancers (2021)

Luís Lizán Lucía Pérez–Carbonell Marta Comellas

To describe the benefit of patient-reported symptom monitoring on clinical, other patient-reported, and economic outcomes.We conducted a systematic literature review using Medline/PubMed, limited to original articles published between 2011 and 2021 in English and Spanish, and focused on the benefit of patient-reported symptom monitoring on cancer patients.We identified 16 reports that deal with the benefit of patient-reported symptom monitoring (collected mostly electronically) on different outcomes. Five studies showed that patient-reported symptom surveillance led to significantly improved survival compared with usual care-mainly through better symptom control, early detection of tumor recurrence, and extended chemotherapy use. Additionally, three evaluations demonstrated an improvement in Health-Related Quality of Life (HRQoL) associated with this monitoring strategy, specifically by reducing symptom severity. Additionally, six studies observed that this monitoring approach prevented unplanned emergency room visits and hospital readmissions, leading to a substantial decrease in healthcare usage.There is consistent evidence across the studies that patient-reported symptom monitoring might entail a substantial survival benefit for cancer patients, better HRQoL, and a considerable decrease in healthcare usage. Nonetheless, more studies should be conducted to demonstrate their effectiveness in addition to their cost-effectiveness in clinical practice.

10.3390/cancers13184615

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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

BMC Medical Genetics (2011)

Adela Castillejo Carla Guarinós Ana Martínez-Cantó Víctor Manuel Barberá Cecilia Egoavil

Abstract Background Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS. Methods The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers. Results Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans , in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients. Conclusions The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Lynch Syndrome

MLH1

Microsatellite Instability

10.1186/1471-2350-12-12

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Gynecologic & Obstetrics

Laboratory Investigation (2012)

Bao‐Ping Zhu X Lin Stephen Rohan Minghao Zhong Rakesh K. Goyal

10.1038/labinvest.2012.36

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TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer

Clinical Cancer Research (2018)

Óscar Murcia Rodrigo Jover Cecilia Egoavil Lucía Pérez–Carbonell Míriam Juárez

Purpose: A recent study reported that 5-fluorouracil (5-FU)-based chemotherapy is less effective in treating patients with advanced colorectal cancer demonstrating hypermethylation of the TFAP2E gene. The aim of our study was to confirm and validate these findings in large, uniformly treated, well-characterized patient cohorts.Experimental Design: Two cohorts of 783 patients with colorectal cancer: 532 from a population-based, multicenter cohort (EPICOLON I) and 251 patients from a clinic-based trial were used to study the effectiveness of TFAP2E methylation and expression as a predictor of response of colorectal cancer patients to 5-FU-based chemotherapy. DNA methylation status of the TFAP2E gene in patients with colorectal cancer was assessed by quantitative bisulfite pyrosequencing analysis. IHC analysis of the TFAP2E protein expression was also performed.Results: Correlation between TFAP2E methylation status and IHC staining was performed in 607 colorectal cancer samples. Among 357 hypermethylated tumors, only 141 (39.6%) exhibited loss of protein expression. Survival was not affected by TFAP2E hypermethylation in stage IV patients [HR, 1.21; 95% confidence interval (CI), 0.79-1.87; log-rank P = 0.6]. In stage II-III cases, disease-free survival was not influenced by TFAP2E hypermethylation status in 5-FU-treated (HR, 0.91; 95% CI, 0.52-1.59; log-rank P = 0.9) as well as in nontreated patients (HR, 0.88; 95% CI, 0.5-1.54; log-rank P = 0.7).Conclusions:TFAP2E hypermethylation does not correlate with loss of its protein expression. Our large, systematic, and comprehensive study indicates that TFAP2E methylation and expression may not play a major role in predicting response to 5-FU-based chemotherapy in patients with colorectal cancer. Clin Cancer Res; 24(12); 2820-7. ©2018 AACR.

Bisulfite sequencing

10.1158/1078-0432.ccr-17-2940

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Sa1945 Molecular Characterization of Serrated Polyps Can Differentiate More Advanced Lesions

Gastroenterology (2014)

Miriam Juarez-Quesada Cecilia Egoavil María Rodríguez‐Soler Carla Guarinós Eva Hernández‐Illán

10.1016/s0016-5085(14)61214-2

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Sa2002 IGFBP3 Methylation As a Novel Diagnostic and Prognostic Marker in Colorectal Cancer

Gastroenterology (2013)

Lucía Pérez–Carbonell Yuji Toiyama Francesc Balaguer Carla Guarinós Keun Hur

IGFBP3

10.1016/s0016-5085(13)61311-6

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Supp Figure 2 from TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer

Óscar Murcia Rodrigo Jover Cecilia Egoavil Lucía Pérez–Carbonell Míriam Juárez

Supplementary Figure 2. Methylation analysis of TFAP2E CpG islands in CRC tissues. Calculation of cutoff value of TFAP2E Intron 3 methylation. Results comparing methylation of the TFAP2E CpG1 (Promoter/Exon 1) and CpG2 (Intron 3) in CRC tissues (N=50) by (A) Bisulfite pyrosequencing (% Methylation) (B-C) Bisulfite pyrosequencing results of TFAP2E Intron 3 methylation in normal colon mucosa from healthy subjects N-N (N=21); and CRC patients-matched tumor-and non-tumor samples N-C (N=41);(N=41). (D) Whitin-subject Receiver Operating Characteristics (ROC) analysis performed on measured TFAP2E % (percentage of methylation) values of patient-matched tumor- (N-N; N=21) and non-tumor (N-C; N=41) samples, respectively. The area under the ROC-curve was calculated as 0.73 (95% CI:0.62-0.82), indicating that the probability of observing a higher TFAP2E value in a tumor-sample of a patient compared to its related non-tumor sample is about 73%.

Bisulfite

CpG site

Bisulfite sequencing

Pyrosequencing

10.1158/1078-0432.22464434

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CCR Translation for This Article from Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps

Carla Guarinós Míriam Juárez Cecilia Egoavil María Rodríguez‐Soler Lucía Pérez–Carbonell

CCR Translation for This Article from Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps

MUTYH

10.1158/1078-0432.22449842

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Clinical Subtypes and Molecular Characteristics of Serrated Polyposis Syndrome

Clinical Gastroenterology and Hepatology (2013)

Carla Guarinós Cristina Sánchez–Fortún María Rodríguez‐Soler Lucía Pérez–Carbonell Cecilia Egoavil

Microsatellite Instability

10.1016/j.cgh.2012.12.045

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Citations (34)