Rosa Munoz Xicola, PhD
Assistant Professor of GeneticsDownloadHi-Res Photo
Cards
Appointments
Genetics
Primary
Digestive Diseases
Secondary
Contact Info
Yale School of Medicine
Department of Medicine (Digestive Diseases), PO Box 208019
New Haven, CT 06520-8019
United States
About
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Titles
Assistant Professor of Genetics
Appointments
Genetics
Assistant ProfessorPrimaryDigestive Diseases
Assistant ProfessorSecondary
Other Departments & Organizations
- Digestive Diseases
- DNA Damage and Genome Integrity
- DNA Diagnostic Laboratory
- Genetics
- Yale Cancer Center
Education & Training
- Postdoctoral Fellow
- Yale University (2015)
- Postdoctoral Fellow
- University of Illinois (UIC) (2014)
- Postdoctoral Fellow
- Institute of Cancer Research (2010)
- PhD
- Universitat Autonoma de Barcelona, Oncology (2009)
- BA
- Universitat Autonoma de Barcelona, Biochemistry (2003)
Research
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Overview
Medical Research Interests
Breast Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis; DNA Repair; Genetics; Healthcare Disparities
ORCID
0000-0001-6466-1885
Research at a Glance
Yale Co-Authors
Frequent collaborators of Rosa Munoz Xicola's published research.
Publications Timeline
A big-picture view of Rosa Munoz Xicola's research output by year.
Research Interests
Research topics Rosa Munoz Xicola is interested in exploring.
Xavier Llor, MD, PhD
Nitu Kashyap, MD, FAMIA
Benjamin Lerner, MD, MHS
Joanna Gibson, MD, PhD
Mar Giner-Calabuig, PhD
Allen Bale, MD
22Publications
388Citations
Colorectal Neoplasms, Hereditary Nonpolyposis
Breast Neoplasms
Publications
2025
Cancer genetics evaluation among individuals at risk for Lynch syndrome across all qualifying indications.
Singh V, Chen G, Sena A, Rafter T, Xicola R, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Hughes M, Kashyap N, Llor X. Cancer genetics evaluation among individuals at risk for Lynch syndrome across all qualifying indications. Journal Of Clinical Oncology 2025, 43: 10616-10616. DOI: 10.1200/jco.2025.43.16_suppl.10616.Peer-Reviewed Original ResearchConceptsLynch syndromeInherited cancer syndromeFamily historyPersonal historyCancer syndromesFamily history of colorectal cancerColorectal cancerPersonal history of cancerFamily history of cancerYale New Haven Health SystemLS-related cancersGenetic testingLS-associated cancersCancer genetic evaluationAt-riskIdentification of at-risk individualsAt-risk individualsPathogenic variantsLS cancersComparison of categorical variablesIndividuals at-riskEO-CRCPearson chi-squareHealth systemDescriptive statisticsAt-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes.
Singh V, Chen G, Sena A, Rafter T, Xicola R, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Hughes M, Kashyap N, Llor X. At-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes. Journal Of Clinical Oncology 2025, 43: 1600-1600. DOI: 10.1200/jco.2025.43.16_suppl.1600.Peer-Reviewed Original ResearchConceptsHereditary cancer syndromesOvercome disparitiesAt-riskGenetic testingHereditary cancer syndrome identificationCancer genetic syndromesPreventable cancer deathsMedicaid-insured individualsComplexity of guidelinesAt-risk individualsPathogenic variantsIndividuals at-riskNon-white individualsDecline testingLynch syndromeUnderserved populationsHealth systemNon-HispanicCancer syndromesChi-square testEligible individualsFamily historyInformational videoCancer deathGenetic counselingElectronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes
Singh V, Rafter T, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Xicola R, Kashyap N, Llor X. Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes. Journal Of Medical Genetics 2025, 62: 457-463. PMID: 40350248, DOI: 10.1136/jmg-2025-110718.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsHereditary cancer syndromesElectronic health recordsGenetic testingElectronic health record-based registryCancer syndromesIdentification of individualsFamily history of cancerFamily historyFamily history criteriaAt-riskHistory of cancerAt-risk individualsHealth recordsPathogenic variantsProspective identification of individualsRegistryActive patientsSyndrome identificationFamily relationshipsIncreased diagnostic rateCancer-related survivalStreamlined processProspective identificationIndividualsTesting needsTu1137: A NOVEL SYSTEMS APPROACH TO SCALE UP IDENTIFICATION AND TESTING OF INDIVIDUALS AT RISK FOR LYNCH SYNDROME WHILE MINIMIZING NEEDED RESOURCES: THE ARCAGEN-ID EXPERIENCE
Chen G, Senna A, Xicola R, Pugliese A, Hughes M, Liu J, Brown Q, Haight C, Kashyap N, Llor X. Tu1137: A NOVEL SYSTEMS APPROACH TO SCALE UP IDENTIFICATION AND TESTING OF INDIVIDUALS AT RISK FOR LYNCH SYNDROME WHILE MINIMIZING NEEDED RESOURCES: THE ARCAGEN-ID EXPERIENCE. Gastroenterology 2025, 169: s-1327. DOI: 10.1016/s0016-5085(25)03929-0.Peer-Reviewed Original ResearchP577: Decreasing disparities in inherited cancer syndromes through a systems approach: The At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system
Xicola R, Singh V, Chen G, Senna A, Pugliese A, Hughes M, Rafter T, Liu J, Brown Q, Haight C, Kashyap N, Llor X. P577: Decreasing disparities in inherited cancer syndromes through a systems approach: The At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system. Genetics In Medicine Open 2025, 3: 102425. DOI: 10.1016/j.gimo.2025.102425.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 cancerCancerP352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program
Xicola R, Bistline E, Galloway M, Cox A, Abdelhamed Z, Ma D, Zhao C, Dykas D, Bale A, Zhang H. P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program. Genetics In Medicine Open 2024, 2: 101246. DOI: 10.1016/j.gimo.2024.101246.Peer-Reviewed Original Research
2023
33 THE IMPLEMENTATION OF AN EMR-BASED AUTOMATED SYSTEM FOR IDENTIFICATION OF PATIENTS SUSPICIOUS FOR LYNCH SYNDROME HAS A DISPROPORTIONALLY POSITIVE IMPACT IN THE IDENTIFICATION OF DISADVANTAGED PATIENTS
Soleymanjahi S, Singh V, Liu J, Brown Q, Brierley K, Healy C, Xicola R, Kashyap N, Llor X. 33 THE IMPLEMENTATION OF AN EMR-BASED AUTOMATED SYSTEM FOR IDENTIFICATION OF PATIENTS SUSPICIOUS FOR LYNCH SYNDROME HAS A DISPROPORTIONALLY POSITIVE IMPACT IN THE IDENTIFICATION OF DISADVANTAGED PATIENTS. Gastroenterology 2023, 164: s-11. DOI: 10.1016/s0016-5085(23)00980-0.Peer-Reviewed Original ResearchMolecular and Sociodemographic Colorectal Cancer Disparities in Latinos Living in Puerto Rico
Perez-Mayoral J, Gonzalez-Pons M, Centeno-Girona H, Montes-Rodríguez I, Soto-Salgado M, Suárez B, Rodríguez N, Colón G, Sevilla J, Jorge D, Llor X, Xicola R, Toro D, Tous-López L, Torres-Torres M, Reyes J, López-Acevedo N, Goel A, Rodríguez-Quilichini S, Cruz-Correa M. Molecular and Sociodemographic Colorectal Cancer Disparities in Latinos Living in Puerto Rico. Genes 2023, 14: 894. PMID: 37107652, PMCID: PMC10138302, DOI: 10.3390/genes14040894.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsEarly-onset colorectal cancerColorectal cancerCpG island methylator phenotypeMicrosatellite instabilityExact testColorectal cancer disparitiesSporadic colorectal cancerFisher's exact testMolecular carcinogenic pathwaysClinicopathologic featuresClinicopathological characteristicsCancer deathCancer disparitiesColorectal tumorsCarcinogenic pathwaysHispanic menMutation statusTumorsAdditional studiesMethylator phenotypeHispanic subpopulationsChi-squaredAmerindian admixtureMolecular pathwaysMolecular markers
2022
Systems approach to enhance Lynch syndrome diagnosis through tumour testing
Singh V, Mezzacappa C, Gershkovich P, Di Giovanna J, Ganzak A, Gibson J, Sinard J, Xicola RM, Llor X. Systems approach to enhance Lynch syndrome diagnosis through tumour testing. Journal Of Medical Genetics 2022, 60: 533-539. PMID: 36115663, PMCID: PMC10020126, DOI: 10.1136/jmg-2022-108770.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsOriginal cohortColorectal adenocarcinomaLynch syndromeTumor testingGenetic testingPercentage of patientsProportion of patientsLynch syndrome diagnosisCG evaluationCancer genetic testingRace/ethnicityCRC testingCohort studyMMR immunohistochemistryLS diagnosisNew diagnosisMMR lossAcademic centersPatientsSyndrome diagnosisCohortCase identificationMethylation testingReferral differencesReferral mechanisms
Academic Achievements & Community Involvement
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Activities
activity American Association for Cancer Research (AACR)
12/31/2008 - PresentProfessional OrganizationsMemberactivity American Gastroenterological Association (AGA)
12/31/2009 - PresentProfessional OrganizationsMemberactivity Clinical and Translational Gastroenterology
2016 - PresentJournal ServiceRevieweractivity Carcinogenesis
2016 - PresentJournal ServiceRevieweractivity Human Molecular Genetics
2017 - PresentJournal ServiceReviewer
Honors
honor Kushlan Junior Faculty Award
06/30/2017Yale School of Medicine AwardDetailsUnited States
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Mailing Address
Yale School of Medicine
Department of Medicine (Digestive Diseases), PO Box 208019
New Haven, CT 06520-8019
United States
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Jan 202613Tuesday
Yale Only Heidi Rehm, PhD