Mar Giner-Calabuig, PhD
she/her/hers
Associate Research Scientist (Digestive Diseases)DownloadHi-Res Photo
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Digestive Diseases
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Associate Research Scientist (Digestive Diseases)
Appointments
Digestive Diseases
Associate Research ScientistPrimary
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Education & Training
- Postdoctoral Associate
- Yale University (2023)
- PhD
- University of Alicante (2020)
- MS
- University of Salamanca, Biology and Clinics of Cancer (2015)
- BA
- University of Lleida, Biomedical Sciences (2014)
Research
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Overview
Medical Research Interests
Colorectal Neoplasms, Hereditary Nonpolyposis; Digestive System Neoplasms; Early Detection of Cancer; Genomics; Lynch Syndrome II; Neoplastic Syndromes, Hereditary; Nutrigenomics
Public Health Interests
Nutrition; Randomized Trials; Microbiome; Genetics, Genomics, Epigenetics; Bioinformatics; Biomarkers; Cancer; Clinical Guidelines; Clinical Trials
ORCID
0000-0002-6267-3708
Research at a Glance
Yale Co-Authors
Frequent collaborators of Mar Giner-Calabuig's published research.
Publications Timeline
A big-picture view of Mar Giner-Calabuig's research output by year.
Research Interests
Research topics Mar Giner-Calabuig is interested in exploring.
Xavier Llor, MD, PhD
Benjamin Lerner, MD, MHS
Joanna Gibson, MD, PhD
Michael Cecchini, MD
Peining Li, PhD
Reshef Tal, MD, PhD
20Publications
219Citations
Colorectal Neoplasms, Hereditary Nonpolyposis
Neoplastic Syndromes, Hereditary
Early Detection of Cancer
Publications
2025
P842: The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis
Rao N, DiMaio M, Giner-Calabuig M, Schepisi L, Harvey K, Monkol L, Zhang H, Zhao C, Hongyan C, Kaufman O, Hall I, Lake N, Hendry C, Diadamo A, Jia A, Tal R, Li P, Taylor H, Reddy U, Zhang H, Jiang Y. P842: The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis. Genetics In Medicine Open 2025, 3: 103211. DOI: 10.1016/j.gimo.2025.103211.Peer-Reviewed Original Research
2024
Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers
Lerner B, Giner-Calabuig M, Carraway C, Richardson M, Krahn K, Susswein L, Nielsen S, Karam R, Xicola R, Llor X. Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers. Journal Of Medical Genetics 2024, 62: 57-61. PMID: 39674581, PMCID: PMC11916899, DOI: 10.1136/jmg-2024-110446.Peer-Reviewed Original ResearchCitationsAltmetricConceptsInternational Gastric Cancer Linkage ConsortiumInternational Gastric Cancer Linkage Consortium criteriaPV carriersLobular breast cancerGenetic tumor risk syndromesGenetic testingFamily membersEarly-onset diffuse gastric cancerPathogenic variant carriersGermline pathogenic variantsDiffuse gastric cancerPathogenic variantsEuropean Reference NetworkCancer geneticsRisk syndromeVariant carriersGenetics guidelinesEuropean cohortAutosomal-dominant syndromeBreast cancerCohortUS commercial laboratoryClinical dataGastric cancerCancer899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT
Lerner B, Giner-Calabuig M, Carraway C, Richardson M, Krahn K, Susswein L, Heald B, Karam R, Xicola R, Llor X. 899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT. Gastroenterology 2024, 166: s-215. DOI: 10.1016/s0016-5085(24)00984-3.Peer-Reviewed Original Research
2023
A novel non-invasive colorectal cancer diagnostic method: Volatile organic compounds as biomarkers
Alustiza M, Ripoll L, Canals A, Murcia O, Martínez-Roca A, García-Heredia A, Giner-Calabuig M, Jover R, Vidal L. A novel non-invasive colorectal cancer diagnostic method: Volatile organic compounds as biomarkers. Clinica Chimica Acta 2023, 542: 117273. PMID: 36863694, DOI: 10.1016/j.cca.2023.117273.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsVolatile organic compoundsOrganic compoundsPre-malignant lesionsThermal desorption-gas chromatography-mass spectrometryFecal testsP-cresolSensitive analytical methodologyCancer samplesColorectal cancer screeningChromatography-mass spectrometryMagnetic graphene oxideCRC patient samplesFecal samplesExtractant phaseSpecificity 63Cancer screeningStool samplesAdenomatous polypsCRC detectionGraphene oxideSpecificity 79Adsorptive extractionSensitivity 83Analytical methodologyPatient samples
2022
Tu1100: HETEROZYGOUS MUTATIONS IN DNA REPAIR GENES CONFER GENETIC SUSCEPTIILITY TO COLORECTAL CANCER AMONG LYNCH-LIKE CASES
Giner-Calabuig M, De Leon S, Vidal-Pedrola G, Fehlmann T, Ukaegbu C, Gibson J, Picó M, Alenda C, Reyes J, Ortega S, LLado C, de la Torre Rubio P, Obrador-Hevia A, Castillejo A, Soto J, Castellví-Bel S, Syngal S, Stoffel E, Ellis N, Jover R, Llor X, Xicola R. Tu1100: HETEROZYGOUS MUTATIONS IN DNA REPAIR GENES CONFER GENETIC SUSCEPTIILITY TO COLORECTAL CANCER AMONG LYNCH-LIKE CASES. Gastroenterology 2022, 162: s-883. DOI: 10.1016/s0016-5085(22)62088-2.Peer-Reviewed Original ResearchMutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential
Giner-Calabuig M, De Leon S, Wang J, Fehlmann TD, Ukaegbu C, Gibson J, Alustiza-Fernandez M, Pico MD, Alenda C, Herraiz M, Carrillo-Palau M, Salces I, Reyes J, Ortega SP, Obrador-Hevia A, Cecchini M, Syngal S, Stoffel E, Ellis NA, Sweasy J, Jover R, Llor X, Xicola RM. Mutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential. British Journal Of Cancer 2022, 126: 1595-1603. PMID: 35197584, PMCID: PMC9130322, DOI: 10.1038/s41416-022-01754-1.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsLynch-like syndromeMMR-deficient tumorsLynch syndromeMicrosatellite instabilityPercent of tumorsMSH2/MSH6 expressionColorectal cancer tumorsPMS2 protein expressionMutational signaturesResultsFifty-three percentClinical managementNeoantigen presentationMSH6 expressionHallmark of tumorsTumor behaviorMMR deficiencyClinical phenotypeDeficient tumorsTumorsSporadic tumorsCancer tumorsMutational profileProtein expressionRepair deficiencySyndromeLynch-like Syndrome: Potential Mechanisms and Management
Martínez-Roca A, Giner-Calabuig M, Murcia O, Castillejo A, Soto JL, García-Heredia A, Jover R. Lynch-like Syndrome: Potential Mechanisms and Management. Cancers 2022, 14: 1115. PMID: 35267422, PMCID: PMC8909420, DOI: 10.3390/cancers14051115.Peer-Reviewed Original ResearchCitationsConceptsLynch-like syndromeMicrosatellite instabilityLynch syndromeSporadic casesCommon hereditary colorectal cancer syndromeHereditary colorectal cancer syndromesGermline mutationsPotential mechanismsColorectal cancer syndromeFirst-degree relativesProportion of casesColon cancer casesPrevention of cancerAutosomal dominant disorderMMR immunohistochemistryColorectal cancerMismatch repair system genesCancer casesCancer syndromesSyndromeHereditary casesTumor samplesMMR genesDominant disorderMMR proteins
2021
Effects of Somatic Methylation in Colonic Polyps on Risk of Developing Metachronous Advanced Colorectal Lesions
Murcia O, Martínez-Roca A, Juárez M, Giner-Calabuig M, Alustiza M, Mira C, Mangas-Sanjuan C, Serrano E, Ruiz-Gómez FA, Baile-Maxia S, Medina L, Alenda C, Payá A, Rodriguez-Soler M, Zapater P, Jover R. Effects of Somatic Methylation in Colonic Polyps on Risk of Developing Metachronous Advanced Colorectal Lesions. Cancers 2021, 13: 246. PMID: 33440809, PMCID: PMC7827613, DOI: 10.3390/cancers13020246.Peer-Reviewed Original ResearchCitationsConceptsCpG island methylator phenotypeAdvanced colorectal lesionsColorectal lesionsColonic polypsRetrospective cohort studyHigh-grade dysplasiaNegative predictive valueBaseline colonoscopyCohort studyConsecutive patientsEndoscopic surveillancePathological characteristicsVillous componentSerrated lesionsPredictive valuePatientsUseful markerSomatic hypermethylationPolyp sizePolypsLesionsMethylator phenotypeSomatic methylationDysplasiaRisk
2020
Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome
Picó MD, Sánchez-Heras AB, Castillejo A, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Llort G, Yagüe C, Ramon y Cajal T, Gisbert-Beamud A, Cubiella J, Rivas L, Herraiz M, Garau C, Salces I, Carrillo-Palau M, Bujanda L, López-Fernández A, Alvarez-Urturi C, López MJ, Alenda C, Zapater P, Lacueva FJ, Balaguer F, Soto JL, Murcia Ó, Jover R. Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome. Cancers 2020, 12: 2225. PMID: 32784934, PMCID: PMC7466118, DOI: 10.3390/cancers12082225.Peer-Reviewed Original ResearchCitationsAltmetricConceptsFDRs of patientsLynch-like syndromeFirst-degree relativesStandardized incidence ratiosColorectal cancerLynch syndromeLLS patientsRisk of CRCHereditary colorectal cancerPathogenic mutationsGermline pathogenic mutationsRisk of cancerLoss of MLH1Mismatch repair deficiencyCRC patientsIncidence ratiosLS patientsImmunohistochemical lossCommon causeHigh incidencePatientsNeoplasmsSyndromeRepair deficiencyRiskTu1212 RELEVANT HETEROGENEITY IN MISMATCH REPAIR DEFICIENT TUMORS
Giner-Calabuig M, Ukaegbu C, Syngal S, Stoffel E, Jover R, Llor X, Xicola R. Tu1212 RELEVANT HETEROGENEITY IN MISMATCH REPAIR DEFICIENT TUMORS. Gastroenterology 2020, 158: s-1020. DOI: 10.1016/s0016-5085(20)33223-6.Peer-Reviewed Original ResearchCitations
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