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Xavier Llor, MD, PhD

Professor of Medicine; Associate CEHE Director for Cancer Screening, Smilow Cancer Hospital; Medical Director, Cancer Screening and Prevention Program, and Colorectal Cancer Prevention Program; Co-Director, Cancer Genetics and Prevention Program

Contact Information

Xavier Llor, MD, PhD

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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Research Summary

Dr. Llor’s research interests relate to colorectal cancer. He focuses his studies on forms of colorectal cancers that can be passed along through the genes and thus can affect multiple members in a family. He is trying to unveil specific genes that can be responsible for some of these cases and how cancers in these families develop. He is also interested in understanding why some racial groups are more prone to develop colorectal cancer than others and how environmental factors can play a key role in colorectal cancer development

Specialized Terms: Mismatch Repair Proficient Hereditary Non-Polyposis Colorectal Cancer; MSS-HNPCC: Lynch syndrome; Colorectal Cancer Disparities: Colorectal Cancer in African Americans

Extensive Research Description

Dr. Llor obtained his MD degree at the Autonomous University of Barcelona and his PhD in molecular biology at the University of Barcelona. He completed his Internal Medicine Residency at the University of Chicago-Lutheran General Hospital Program and his GI fellowship at the University of Illinois at Chicago. In 2014, Dr. Llor joined Yale University as co-Director of the Cancer Genetics and Prevention Program, Medical Director of the Colorectal Cancer Prevention Program, and more recently Associate Director of Cancer Screening at Yale's Cancer Center.

A clinically active gastroenterologist, Dr. Llor's research and clinical interests relate to GI cancer, mostly colorectal and stomach, with an emphasis on genetics and disparities. He spearheaded and carried out three large prospective cohorts of colorectal cancer patients and controls that produced a wealth of information. Some important contributions from Dr. Llor's lab include the description of the best diagnostic approaches to Lynch syndrome diagnosis; clinical and molecular characterization of mismatch repair proficient hereditary non-polyposis colorectal cancer (type X); identification of distinct clinical and molecular features of colorectal cancers in young African Americans, phenotypic features of hereditary gastric cancer.

Some of the themes of my research include:

1. Lynch syndrome (LS) is the most common inherited CRC syndrome and it is characterized by cancer development at a young age and very high risk of different extra-colonic malignancies. Affected family members require intensive cancer surveillance. LS is caused by mutations in the mismatch repair genes that result in tumor microsatellite instability (MSI) and loss of expression of the corresponding protein. A tremendous challenge is still diagnosing individuals with LS as patients do not have an obvious pre-morbid phenotype (development of multiple polyps) that could suggest the presence of this syndrome. Thus, establishing the best diagnostic approaches has been an important priority over the last few years. I have performed several studies that have become seminal in the diagnostic process of LS.

a. Pinol, Castells A, Andreu M, Castellví-Bel S, Alenda C, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA. 2005 Apr 27;293(16):1986-94.

b. Xicola RM, Llor X*, Pons E, Castells A, Alenda C, et al. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J Natl Cancer Inst. 2007 Feb 7;99(3):244-52. *Corresponding author.

c. Balaguer F, Balmaña J, Castellví-Bel S, Steyerberg EW, Andreu M, et al. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology. 2008 Jan;134(1):39-46. PMCID: PMC2542581.

d. Bessa X, Ballesté B, Andreu M, Castells A, Bellosillo B, et al. A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening. Clin Gastroenterol Hepatol. 2008 Feb;6(2):206-14.

2. African Americans have the highest incidence and mortality from colorectal cancer and several studies have suggested some clear biological differences. In order to better understand these differences while taking into account social and environmental factors, I established and lead the Chicago Colorectal Cancer Consortium (CCCC), a multiethnic cohort that recruited over 600 patients with CRC of which over 60% are African Americans. The CCCC established a strong team of collaborators working towards the identification of genetic-environmental interactions and socio-economic aspects. Some important findings have already been published and other manuscripts are under preparation. As these is a rich repository of clinical data and biological samples, we expect many more studies will be published in the future based on this cohort

a. RM Xicola, Z Manojlovic, GJ. Augustus, SS Kupfer, R Emmadi, et al. Lack of APC somatic mutation is associated with early-onset colorectal cancer in African Americans. Carcinogenesis. 2018 Dec 13;39(11):1331-1341. PMCID: PMC6292413

b. Pibiri F, Kittles RA, Sandler RS, Keku TO, Kupfer SS, et al. Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans. Cancer Causes Control. 2014 May;25(5):561-70. PMCID: PMC3978221.

c. Xicola RM, Gagnon M, Clark JR, Carroll T, Gao W, et al. Excess of proximal microsatellite-stable colorectal cancer in African Americans from a multiethnic study. Clin Cancer Res. 2014 Sep 15;20(18):4962-70. PMCID: PMC4167473.

d. Guindalini RS, Win AK, Gulden C, Lindor NM, Newcomb PA, et al. Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. Gastroenterology. 2015 Nov;149(6):1446-53. PMCID: PMC4648287.

3. Colorectal cancer is among all common malignancies one with the highest percentage of familial clustering. In fact, several hereditary colorectal cancer syndromes have already been well characterized, which has allowed the implementation of genetic screening and prophylactic and preventive measures. Nevertheless, about half of the families showing a pedigree strongly suggestive of an autosomal dominant inheritance pattern with no polyposis phenotype do not have known genetic predisposing mutations identified so far. I have carried out different studies to characterize these patients, investigating germline associations as well as distinctive carcinogenic processes in order to identify their potential biological cause. Several key features have been identified and these describe this group as a different colorectal cancer entity.

a. Llor X, Pons E, Xicola RM, Castells A, Alenda C, et al. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res. 2005 Oct 15;11(20):7304-10.

b. Goel A, Xicola RM, Nguyen TP, Doyle BJ, Sohn VR, et al. Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology. 2010 May;138(5):1854-62. PMCID: PMC2859993.

c. Rodríguez-Soler M, Pérez-Carbonell L, Guarinos C, Zapater P, Castillejo A, et al. Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology. 2013 May;144(5):926-932.e1; quiz e13-4.

b. Xicola RM, Bontu S, Doyle BJ, Rawson J, Garre P, et al. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC). Carcinogenesis. 2016 Aug;37(8):751-8. PMCID: PMC4967215.

Coauthors

Research Interests

African Americans; Digestive System Neoplasms; Genetics, Medical; Genetics, Population; Colorectal Neoplasms; Lynch Syndrome II

Public Health Interests

Cancer; Nutrition; Health Equity, Disparities, Social Determinants and Justice

Selected Publications

  • Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.MacFarland SP, Ebrahimzadeh JE, Zelley K, Begum L, Bass LM, Brand RE, Dudley B, Fishman DS, Ganzak A, Karloski E, Latham A, Llor X, Plon S, Riordan MK, Scollon SR, Stadler ZK, Syngal S, Ukaegbu C, Weiss JM, Yurgelun MB, Brodeur GM, Mamula P, Katona BW. Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. Cancer Prevention Research (Philadelphia, Pa.) 2021, 14: 215-222. PMID: 33097490, PMCID: PMC8557953, DOI: 10.1158/1940-6207.CAPR-20-0348.
  • Dickkopf-2 regulates the stem cell marker LGR5 in colorectal cancer via HNF4α1.Shin JH, Jeong J, Choi J, Lim J, Dinesh RK, Braverman J, Hong JY, Maher SE, Amezcua Vesely MC, Kim W, Koo JH, Tang W, Wu D, Blackburn HN, Xicola RM, Llor X, Yilmaz O, Choi JM, Bothwell ALM. Dickkopf-2 regulates the stem cell marker LGR5 in colorectal cancer via HNF4α1. IScience 2021, 24: 102411. PMID: 33997693, PMCID: PMC8099562, DOI: 10.1016/j.isci.2021.102411.
  • Analysis of Survival Among Adults With Early-Onset Colorectal Cancer in the National Cancer Database.Cheng E, Blackburn HN, Ng K, Spiegelman D, Irwin ML, Ma X, Gross CP, Tabung FK, Giovannucci EL, Kunz PL, Llor X, Billingsley K, Meyerhardt JA, Ahuja N, Fuchs CS. Analysis of Survival Among Adults With Early-Onset Colorectal Cancer in the National Cancer Database. JAMA Network Open 2021, 4: e2112539. PMID: 34132794, PMCID: PMC8209612, DOI: 10.1001/jamanetworkopen.2021.12539.
  • Decreased copy-neutral loss of heterozygosity in African American colorectal cancers.Augustus GJ, Xicola RM, Llor X, Ellis NA. Decreased copy-neutral loss of heterozygosity in African American colorectal cancers. Genes, Chromosomes & Cancer 2020, 59: 454-464. PMID: 32293075, PMCID: PMC8045478, DOI: 10.1002/gcc.22851.
  • AGA White Paper: Roadmap for the Future of Colorectal Cancer Screening in the United States.Melson JE, Imperiale TF, Itzkowitz SH, Llor X, Kochman ML, Grady WM, Schoen RE, Burke CA, Shaukat A, Rabeneck L, Ladabaum U, Bresalier R, Spiegel B, Yee J, Wang T, Lieberman D, Komanduri S, Muthusamy VR, Dey N. AGA White Paper: Roadmap for the Future of Colorectal Cancer Screening in the United States. Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association 2020, 18: 2667-2678.e2. PMID: 32634626, DOI: 10.1016/j.cgh.2020.06.053.
  • NCCN Guidelines Insights: Colorectal Cancer Screening, Version 2.2020.Provenzale D, Ness RM, Llor X, Weiss JM, Abbadessa B, Cooper G, Early DS, Friedman M, Giardiello FM, Glaser K, Gurudu S, Halverson AL, Issaka R, Jain R, Kanth P, Kidambi T, Lazenby AJ, Maguire L, Markowitz AJ, May FP, Mayer RJ, Mehta S, Patel S, Peter S, P Stanich P, Terdiman J, Keller J, Dwyer MA, Ogba N. NCCN Guidelines Insights: Colorectal Cancer Screening, Version 2.2020. Journal Of The National Comprehensive Cancer Network : JNCCN 2020, 18: 1312-1320. PMID: 33022639, PMCID: PMC8311627, DOI: 10.6004/jnccn.2020.0048.
  • Genetic Gastric Cancer Risk Syndromes.Lerner BA, Llor X. Genetic Gastric Cancer Risk Syndromes. Current Treatment Options In Gastroenterology 2020, 18: 604-615. PMID: 33776403, PMCID: PMC7992355, DOI: 10.1007/s11938-020-00312-z.
  • Implication of DNA repair genes in Lynch-like syndrome.Xicola RM, Clark JR, Carroll T, Alvikas J, Marwaha P, Regan MR, Lopez-Giraldez F, Choi J, Emmadi R, Alagiozian-Angelova V, Kupfer SS, Ellis NA, Llor X. Implication of DNA repair genes in Lynch-like syndrome. Familial Cancer 2019, 18: 331-342. PMID: 30989425, PMCID: PMC6561810, DOI: 10.1007/s10689-019-00128-6.
  • Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria.Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, Black MH, LaDuca H, Llor X. Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. Journal Of Medical Genetics 2019, 56: 838-843. PMID: 31296550, DOI: 10.1136/jmedgenet-2019-105991.
  • Scoring colorectal cancer risk with an artificial neural network based on self-reportable personal health data.Nartowt BJ, Hart GR, Roffman DA, Llor X, Ali I, Muhammad W, Liang Y, Deng J. Scoring colorectal cancer risk with an artificial neural network based on self-reportable personal health data. PloS One 2019, 14: e0221421. PMID: 31437221, PMCID: PMC6705772, DOI: 10.1371/journal.pone.0221421.
  • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019.Gupta S, Provenzale D, Llor X, Halverson AL, Grady W, Chung DC, Haraldsdottir S, Markowitz AJ, Slavin TP, Hampel H, Ness RM, Weiss JM, Ahnen DJ, Chen LM, Cooper G, Early DS, Giardiello FM, Hall MJ, Hamilton SR, Kanth P, Klapman JB, Lazenby AJ, Lynch PM, Mayer RJ, Mikkelson J, Peter S, Regenbogen SE, Dwyer MA, Ogba N. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019. Journal Of The National Comprehensive Cancer Network : JNCCN 2019, 17: 1032-1041. PMID: 31487681, DOI: 10.6004/jnccn.2019.0044.
  • Lynch Syndrome: Widening the Net.Llor X. Lynch Syndrome: Widening the Net. Gastroenterology 2019, 157: 1432-1434. PMID: 31586568, DOI: 10.1053/j.gastro.2019.09.028.
  • TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer.Murcia O, Jover R, Egoavil CM, Juarez M, Perez-Carbonell L, Hernández-Illán E, Rojas E, Alenda C, Balaguer F, Andreu M, Llor X, Castells A, Boland CR, Goel A. TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer. Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research 2018, 24: 2820-2827. PMID: 29535127, PMCID: PMC7396148, DOI: 10.1158/1078-0432.CCR-17-2940.
  • Genetic testing for hereditary prostate cancer: Current status and limitations.Zhen JT, Syed J, Nguyen KA, Leapman MS, Agarwal N, Brierley K, Llor X, Hofstatter E, Shuch B. Genetic testing for hereditary prostate cancer: Current status and limitations. Cancer 2018, 124: 3105-3117. PMID: 29669169, DOI: 10.1002/cncr.31316.
  • NCCN Guidelines Insights: Colorectal Cancer Screening, Version 1.2018.Provenzale D, Gupta S, Ahnen DJ, Markowitz AJ, Chung DC, Mayer RJ, Regenbogen SE, Blanco AM, Bray T, Cooper G, Early DS, Ford JM, Giardiello FM, Grady W, Hall MJ, Halverson AL, Hamilton SR, Hampel H, Klapman JB, Larson DW, Lazenby AJ, Llor X, Lynch PM, Mikkelson J, Ness RM, Slavin TP, Sugandha S, Weiss JM, Dwyer MA, Ogba N. NCCN Guidelines Insights: Colorectal Cancer Screening, Version 1.2018. Journal Of The National Comprehensive Cancer Network : JNCCN 2018, 16: 939-949. PMID: 30099370, DOI: 10.6004/jnccn.2018.0067.
  • Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy.Murcia O, Juárez M, Rodríguez-Soler M, Hernández-Illán E, Giner-Calabuig M, Alustiza M, Egoavil C, Castillejo A, Alenda C, Barberá V, Mangas-Sanjuan C, Yuste A, Bujanda L, Clofent J, Andreu M, Castells A, Llor X, Zapater P, Jover R. Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy. PloS One 2018, 13: e0203051. PMID: 30188916, PMCID: PMC6126803, DOI: 10.1371/journal.pone.0203051.
  • Lack of APC somatic mutation is associated with early-onset colorectal cancer in African Americans.Xicola RM, Manojlovic Z, Augustus GJ, Kupfer SS, Emmadi R, Alagiozian-Angelova V, Triche T, Salhia B, Carpten J, Llor X, Ellis NA. Lack of APC somatic mutation is associated with early-onset colorectal cancer in African Americans. Carcinogenesis 2018, 39: 1331-1341. PMID: 30239619, PMCID: PMC6292413, DOI: 10.1093/carcin/bgy122.
  • Abdominal Pain With Boring-Like Character: The Revolution Is Yet to Come.Llor X. Abdominal Pain With Boring-Like Character: The Revolution Is Yet to Come. Journal Of The National Comprehensive Cancer Network : JNCCN 2017, 15: 969-970. PMID: 28687583, DOI: 10.6004/jnccn.2017.0128.
  • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017.Gupta S, Provenzale D, Regenbogen SE, Hampel H, Slavin TP, Hall MJ, Llor X, Chung DC, Ahnen DJ, Bray T, Cooper G, Early DS, Ford JM, Giardiello FM, Grady W, Halverson AL, Hamilton SR, Klapman JB, Larson DW, Lazenby AJ, Lynch PM, Markowitz AJ, Mayer RJ, Ness RM, Samadder NJ, Shike M, Sugandha S, Weiss JM, Dwyer MA, Ogba N. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017. Journal Of The National Comprehensive Cancer Network : JNCCN 2017, 15: 1465-1475. PMID: 29223984, DOI: 10.6004/jnccn.2017.0176.
  • Race-dependent association of sulfidogenic bacteria with colorectal cancer.Yazici C, Wolf PG, Kim H, Cross TL, Vermillion K, Carroll T, Augustus GJ, Mutlu E, Tussing-Humphreys L, Braunschweig C, Xicola RM, Jung B, Llor X, Ellis NA, Gaskins HR. Race-dependent association of sulfidogenic bacteria with colorectal cancer. Gut 2017, 66: 1983-1994. PMID: 28153960, PMCID: PMC5575988, DOI: 10.1136/gutjnl-2016-313321.
  • Candidate predisposing germline copy number variants in early onset colorectal cancer patients.Brea-Fernandez AJ, Fernandez-Rozadilla C, Alvarez-Barona M, Azuara D, Ginesta MM, Clofent J, de Castro L, Gonzalez D, Andreu M, Bessa X, Llor X, Xicola R, Jover R, Castells A, Castellvi-Bel S, Capella G, Carracedo A, Ruiz-Ponte C. Candidate predisposing germline copy number variants in early onset colorectal cancer patients. Clinical & Translational Oncology : Official Publication Of The Federation Of Spanish Oncology Societies And Of The National Cancer Institute Of Mexico 2017, 19: 625-632. PMID: 27888432, DOI: 10.1007/s12094-016-1576-z.
  • Methylation of WNT target genes AXIN2 and DKK1 as robust biomarkers for recurrence prediction in stage II colon cancer.Kandimalla R, Linnekamp JF, van Hooff S, Castells A, Llor X, Andreu M, Jover R, Goel A, Medema JP. Methylation of WNT target genes AXIN2 and DKK1 as robust biomarkers for recurrence prediction in stage II colon cancer. Oncogenesis 2017, 6: e308. PMID: 28368388, PMCID: PMC5520503, DOI: 10.1038/oncsis.2017.9.
  • Building a Cancer Genetics and Prevention Program.Llor X. Building a Cancer Genetics and Prevention Program. Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association 2016, 14: 1516-1520. PMID: 27531499, DOI: 10.1016/j.cgh.2016.06.012.
  • A meta-analysis of MSI frequency and race in colorectal cancer.Ashktorab H, Ahuja S, Kannan L, Llor X, Ellis NA, Xicola RM, Laiyemo AO, Carethers JM, Brim H, Nouraie M. A meta-analysis of MSI frequency and race in colorectal cancer. Oncotarget 2016, 7: 34546-57. PMID: 27120810, PMCID: PMC5085175, DOI: 10.18632/oncotarget.8945.
  • Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).Xicola RM, Bontu S, Doyle BJ, Rawson J, Garre P, Lee E, de la Hoya M, Bessa X, Clofent J, Bujanda L, Balaguer F, Castellví-Bel S, Alenda C, Jover R, Ruiz-Ponte C, Syngal S, Andreu M, Carracedo A, Castells A, Newcomb PA, Lindor N, Potter JD, Baron JA, Ellis NA, Caldes T, LLor X. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC). Carcinogenesis 2016, 37: 751-8. PMID: 27234654, PMCID: PMC4967215, DOI: 10.1093/carcin/bgw064.
  • Kinase-Dependent and -Independent Roles for PTK6 in Colon Cancer.Mathur PS, Gierut JJ, Guzman G, Xie H, Xicola RM, Llor X, Chastkofsky MI, Perekatt AO, Tyner AL. Kinase-Dependent and -Independent Roles for PTK6 in Colon Cancer. Molecular Cancer Research : MCR 2016, 14: 563-73. PMID: 26983689, PMCID: PMC4912439, DOI: 10.1158/1541-7786.MCR-15-0450.
  • Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci.Hulur I, Gamazon ER, Skol AD, Xicola RM, Llor X, Onel K, Ellis NA, Kupfer SS. Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. BMC Genomics 2015, 16: 138. PMID: 25766683, PMCID: PMC4351699, DOI: 10.1186/s12864-015-1292-z.
  • Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.Guindalini RS, Win AK, Gulden C, Lindor NM, Newcomb PA, Haile RW, Raymond V, Stoffel E, Hall M, Llor X, Ukaegbu CI, Solomon I, Weitzel J, Kalady M, Blanco A, Terdiman J, Shuttlesworth GA, Lynch PM, Hampel H, Lynch HT, Jenkins MA, Olopade OI, Kupfer SS. Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. Gastroenterology 2015, 149: 1446-53. PMID: 26248088, PMCID: PMC4648287, DOI: 10.1053/j.gastro.2015.07.052.
  • Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer. Journal Of Medical Genetics 2015, 52: 498-502. PMID: 25908759, DOI: 10.1136/jmedgenet-2015-103076.
  • Efficacy of Adjuvant 5-Fluorouracil Therapy for Patients with EMAST-Positive Stage II/III Colorectal Cancer.Hamaya Y, Guarinos C, Tseng-Rogenski SS, Iwaizumi M, Das R, Jover R, Castells A, Llor X, Andreu M, Carethers JM. Efficacy of Adjuvant 5-Fluorouracil Therapy for Patients with EMAST-Positive Stage II/III Colorectal Cancer. PloS One 2015, 10: e0127591. PMID: 25996601, PMCID: PMC4440728, DOI: 10.1371/journal.pone.0127591.
  • Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer.Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López-Cerón M, Pellise M, Castellví-Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR, Goel A, Castells A, Balaguer F. Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer. Cancer 2015, 121: 1395-404. PMID: 25557234, DOI: 10.1002/cncr.29190.
  • The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.Abulí A, Bujanda L, Muñoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocaña T, Piqué JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A, Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellví-Bel S. The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. PloS One 2014, 9: e95022. PMID: 24743384, PMCID: PMC3990597, DOI: 10.1371/journal.pone.0095022.
  • Multiple sporadic colorectal cancers display a unique methylation phenotype.Gonzalo V, Lozano JJ, Alonso-Espinaco V, Moreira L, Muñoz J, Pellisé M, Castellví-Bel S, Bessa X, Andreu M, Xicola RM, Llor X, Ruiz-Ponte C, Carracedo A, Jover R, Castells A, Balaguer F. Multiple sporadic colorectal cancers display a unique methylation phenotype. PloS One 2014, 9: e91033. PMID: 24643221, PMCID: PMC3958343, DOI: 10.1371/journal.pone.0091033.
  • Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans.Pibiri F, Kittles RA, Sandler RS, Keku TO, Kupfer SS, Xicola RM, Llor X, Ellis NA. Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans. Cancer Causes & Control : CCC 2014, 25: 561-70. PMID: 24562971, PMCID: PMC3978221, DOI: 10.1007/s10552-014-0361-y.
  • IGFBP3 methylation is a novel diagnostic and predictive biomarker in colorectal cancer.Perez-Carbonell L, Balaguer F, Toiyama Y, Egoavil C, Rojas E, Guarinos C, Andreu M, Llor X, Castells A, Jover R, Boland CR, Goel A. IGFBP3 methylation is a novel diagnostic and predictive biomarker in colorectal cancer. PloS One 2014, 9: e104285. PMID: 25127039, PMCID: PMC4134211, DOI: 10.1371/journal.pone.0104285.
  • Excess of proximal microsatellite-stable colorectal cancer in African Americans from a multiethnic study.Xicola RM, Gagnon M, Clark JR, Carroll T, Gao W, Fernandez C, Mijic D, Rawson JB, Janoski A, Pusatcioglu CK, Rajaram P, Gluskin AB, Regan M, Chaudhry V, Abcarian H, Blumetti J, Cintron J, Melson J, Xie H, Guzman G, Emmadi R, Alagiozian-Angelova V, Kupfer SS, Braunschweig C, Ellis NA, Llor X. Excess of proximal microsatellite-stable colorectal cancer in African Americans from a multiethnic study. Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research 2014, 20: 4962-70. PMID: 25013126, PMCID: PMC4167473, DOI: 10.1158/1078-0432.CCR-14-0353.
  • Systemic and tumor level iron regulation in men with colorectal cancer: a case control study.Pusatcioglu CK, Nemeth E, Fantuzzi G, Llor X, Freels S, Tussing-Humphreys L, Cabay RJ, Linzmeier R, Ng D, Clark J, Braunschweig C. Systemic and tumor level iron regulation in men with colorectal cancer: a case control study. Nutrition & Metabolism 2014, 11: 21. PMID: 24872837, PMCID: PMC4037273, DOI: 10.1186/1743-7075-11-21.
  • A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M, López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L, Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. Human Genetics 2014, 133: 525-34. PMID: 24218287, DOI: 10.1007/s00439-013-1390-4.
  • Colorectal cancer: from the laboratory to the patient, a now indispensable step.Llor X. Colorectal cancer: from the laboratory to the patient, a now indispensable step. Revista De Gastroenterologia De Mexico 2014, 79: 71-2. PMID: 24934514, DOI: 10.1016/j.rgmx.2014.05.005.
  • Risk of cancer in cases of suspected lynch syndrome without germline mutation.Rodríguez-Soler M, Pérez-Carbonell L, Guarinos C, Zapater P, Castillejo A, Barberá VM, Juárez M, Bessa X, Xicola RM, Clofent J, Bujanda L, Balaguer F, Reñé JM, de-Castro L, Marín-Gabriel JC, Lanas A, Cubiella J, Nicolás-Pérez D, Brea-Fernández A, Castellví-Bel S, Alenda C, Ruiz-Ponte C, Carracedo A, Castells A, Andreu M, Llor X, Soto JL, Payá A, Jover R. Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology 2013, 144: 926-932.e1; quiz e13-4. PMID: 23354017, DOI: 10.1053/j.gastro.2013.01.044.
  • Identification of novel predictor classifiers for inflammatory bowel disease by gene expression profiling.Montero-Meléndez T, Llor X, García-Planella E, Perretti M, Suárez A. Identification of novel predictor classifiers for inflammatory bowel disease by gene expression profiling. PloS One 2013, 8: e76235. PMID: 24155895, PMCID: PMC3796518, DOI: 10.1371/journal.pone.0076235.
  • A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, Lamas MJ, Baiget M, López-Fernández LA, Brea-Fernández A, Abulí A, Bujanda L, Clofent J, Gonzalez D, Xicola R, Andreu M, Bessa X, Jover R, Llor X, Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. BMC Genomics 2013, 14: 55. PMID: 23350875, PMCID: PMC3616862, DOI: 10.1186/1471-2164-14-55.
  • BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez LA, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis 2013, 34: 314-8. PMID: 23161572, DOI: 10.1093/carcin/bgs357.
  • Genetic susceptibility variants associated with colorectal cancer prognosis.Abulí A, Lozano JJ, Rodríguez-Soler M, Jover R, Bessa X, Muñoz J, Esteban-Jurado C, Fernández-Rozadilla C, Carracedo A, Ruiz-Ponte C, Cubiella J, Balaguer F, Bujanda L, Reñé JM, Clofent J, Morillas JD, Nicolás-Pérez D, Xicola RM, Llor X, Piqué JM, Andreu M, Castells A, Castellví-Bel S. Genetic susceptibility variants associated with colorectal cancer prognosis. Carcinogenesis 2013, 34: 2286-91. PMID: 23712746, DOI: 10.1093/carcin/bgt179.
  • Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration.Fernandez-Rozadilla C, Cazier JB, Moreno V, Crous-Bou M, Guinó E, Durán G, Lamas MJ, López R, Candamio S, Gallardo E, Paré L, Baiget M, Páez D, López-Fernández LA, Cortejoso L, García MI, Bujanda L, González D, Gonzalo V, Rodrigo L, Reñé JM, Jover R, Brea-Fernández A, Andreu M, Bessa X, Llor X, Xicola R, Palles C, Tomlinson I, Castellví-Bel S, Castells A, Ruiz-Ponte C, Carracedo A. Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. The Pharmacogenomics Journal 2013, 13: 209-17. PMID: 22310351, DOI: 10.1038/tpj.2012.2.
  • BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency.Fernandez-Rozadilla C, Brea-Fernández A, Bessa X, Alvarez-Urturi C, Abulí A, Clofent J, Payá A, Jover R, Xicola R, Llor X, Andreu M, Castells A, Carracedo A, Castellví-Bel S, Ruiz-Ponte C. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency. Clinical Genetics 2013, 84: 94-6. PMID: 23057600, DOI: 10.1111/cge.12023.
  • Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience.Castellví-Bel S, Ruiz-Ponte C, Fernández-Rozadilla C, Abulí A, Muñoz J, Bessa X, Brea-Fernández A, Ferro M, Giráldez MD, Xicola RM, Llor X, Jover R, Piqué JM, Andreu M, Castells A, Carracedo A. Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience. Mutagenesis 2012, 27: 153-9. PMID: 22294762, DOI: 10.1093/mutage/ger047.
  • Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodríguez-Soler M, Sánchez-Fortún C, Acame N, Castellví-Bel S, Piñol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut 2012, 61: 865-72. PMID: 21868491, DOI: 10.1136/gutjnl-2011-300041.
  • When should we suspect hereditary colorectal cancer syndrome?Llor X. When should we suspect hereditary colorectal cancer syndrome? Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association 2012, 10: 363-7; quiz e39; e41. PMID: 22178459, DOI: 10.1016/j.cgh.2011.12.022.
  • Susceptibility genetic variants associated with early-onset colorectal cancer.Giráldez MD, López-Dóriga A, Bujanda L, Abulí A, Bessa X, Fernández-Rozadilla C, Muñoz J, Cuatrecasas M, Jover R, Xicola RM, Llor X, Piqué JM, Carracedo A, Ruiz-Ponte C, Cosme A, Enríquez-Navascués JM, Moreno V, Andreu M, Castells A, Balaguer F, Castellví-Bel S. Susceptibility genetic variants associated with early-onset colorectal cancer. Carcinogenesis 2012, 33: 613-9. PMID: 22235025, DOI: 10.1093/carcin/bgs009.
  • Stool-fermented Plantago ovata husk induces apoptosis in colorectal cancer cells independently of molecular phenotype.Sohn VR, Giros A, Xicola RM, Fluvià L, Grzybowski M, Anguera A, Llor X. Stool-fermented Plantago ovata husk induces apoptosis in colorectal cancer cells independently of molecular phenotype. The British Journal Of Nutrition 2012, 107: 1591-602. PMID: 22018732, DOI: 10.1017/S0007114511004910.
  • A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancer.Antelo M, Balaguer F, Shia J, Shen Y, Hur K, Moreira L, Cuatrecasas M, Bujanda L, Giraldez MD, Takahashi M, Cabanne A, Barugel ME, Arnold M, Roca EL, Andreu M, Castellvi-Bel S, Llor X, Jover R, Castells A, Boland CR, Goel A. A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancer. PloS One 2012, 7: e45357. PMID: 23049789, PMCID: PMC3458035, DOI: 10.1371/journal.pone.0045357.
  • [DNA methylation defects in sporadic and hereditary colorectal cancer].Xicola RM, Llor X. [DNA methylation defects in sporadic and hereditary colorectal cancer]. Gastroenterologia Y Hepatologia 2012, 35: 480-7. PMID: 22459641, DOI: 10.1016/j.gastrohep.2012.01.010.
  • Validation microsatellite path score in a population-based cohort of patients with colorectal cancer.Bessa X, Alenda C, Paya A, Álvarez C, Iglesias M, Seoane A, Dedeu JM, Abulí A, Ilzarbe L, Navarro G, Pellise M, Balaguer F, Castellvi-Bel S, Llor X, Castells A, Jover R, Andreu M. Validation microsatellite path score in a population-based cohort of patients with colorectal cancer. Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology 2011, 29: 3374-80. PMID: 21788563, DOI: 10.1200/JCO.2010.34.3947.
  • Analysis of the oxidative damage repair genes NUDT1, OGG1, and MUTYH in patients from mismatch repair proficient HNPCC families (MSS-HNPCC).Garre P, Briceño V, Xicola RM, Doyle BJ, de la Hoya M, Sanz J, Llovet P, Pescador P, Puente J, Díaz-Rubio E, Llor X, Caldés T. Analysis of the oxidative damage repair genes NUDT1, OGG1, and MUTYH in patients from mismatch repair proficient HNPCC families (MSS-HNPCC). Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research 2011, 17: 1701-12. PMID: 21355073, DOI: 10.1158/1078-0432.CCR-10-2491.
  • Colorectal cancers with microsatellite instability display unique miRNA profiles.Balaguer F, Moreira L, Lozano JJ, Link A, Ramirez G, Shen Y, Cuatrecasas M, Arnold M, Meltzer SJ, Syngal S, Stoffel E, Jover R, Llor X, Castells A, Boland CR, Gironella M, Goel A. Colorectal cancers with microsatellite instability display unique miRNA profiles. Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research 2011, 17: 6239-49. PMID: 21844009, PMCID: PMC3186834, DOI: 10.1158/1078-0432.CCR-11-1424.
  • Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, Castillejo MI, Perez-Carbonell L, Sanchez-Heras AB, Segura A, Ochoa E, Lazaro R, Ruiz-Ponte C, Bujanda L, Andreu M, Castells A, Carracedo A, Llor X, Clofent J, Alenda C, Paya A, Jover R, Soto JL. Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome. BMC Medical Genetics 2011, 12: 12. PMID: 21247423, PMCID: PMC3034663, DOI: 10.1186/1471-2350-12-12.
  • 5-Fluorouracil adjuvant chemotherapy does not increase survival in patients with CpG island methylator phenotype colorectal cancer.Jover R, Nguyen TP, Pérez-Carbonell L, Zapater P, Payá A, Alenda C, Rojas E, Cubiella J, Balaguer F, Morillas JD, Clofent J, Bujanda L, Reñé JM, Bessa X, Xicola RM, Nicolás-Pérez D, Castells A, Andreu M, Llor X, Boland CR, Goel A. 5-Fluorouracil adjuvant chemotherapy does not increase survival in patients with CpG island methylator phenotype colorectal cancer. Gastroenterology 2011, 140: 1174-81. PMID: 21185836, PMCID: PMC3073650, DOI: 10.1053/j.gastro.2010.12.035.
  • Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins.Abulí A, Fernández-Rozadilla C, Alonso-Espinaco V, Muñoz J, Gonzalo V, Bessa X, González D, Clofent J, Cubiella J, Morillas JD, Rigau J, Latorre M, Fernández-Bañares F, Peña E, Riestra S, Payá A, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Villanueva CM, Moreno V, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins. BMC Cancer 2011, 11: 339. PMID: 21819567, PMCID: PMC3176240, DOI: 10.1186/1471-2407-11-339.
  • Cancer risk assessment in Lynch syndrome: does the gene matter?Xicola RM, Llor X. Cancer risk assessment in Lynch syndrome: does the gene matter? JAMA 2011, 305: 2351-2. PMID: 21642691, DOI: 10.1001/jama.2011.771.
  • A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.Abulí A, Fernández-Rozadilla C, Giráldez MD, Muñoz J, Gonzalo V, Bessa X, Bujanda L, Reñé JM, Lanas A, García AM, Saló J, Argüello L, Vilella A, Carreño R, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Tomlinson IP, Kerr DJ, Houlston RS, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S. A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22. British Journal Of Cancer 2011, 105: 870-5. PMID: 21811255, PMCID: PMC3171011, DOI: 10.1038/bjc.2011.296.
  • Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort.Fernández-Rozadilla C, de Castro L, Clofent J, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort. PloS One 2010, 5 PMID: 20844743, PMCID: PMC2936577, DOI: 10.1371/journal.pone.0012673.
  • Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.Goel A, Xicola RM, Nguyen TP, Doyle BJ, Sohn VR, Bandipalliam P, Rozek LS, Reyes J, Cordero C, Balaguer F, Castells A, Jover R, Andreu M, Syngal S, Boland CR, Llor X. Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 2010, 138: 1854-62. PMID: 20102720, PMCID: PMC2859993, DOI: 10.1053/j.gastro.2010.01.035.
  • Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome.Pérez-Carbonell L, Alenda C, Payá A, Castillejo A, Barberá VM, Guillén C, Rojas E, Acame N, Gutiérrez-Aviñó FJ, Castells A, Llor X, Andreu M, Soto JL, Jover R. Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome. The Journal Of Molecular Diagnostics : JMD 2010, 12: 498-504. PMID: 20489114, PMCID: PMC2893635, DOI: 10.2353/jmoldx.2010.090212.
  • Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer.Gonzalo V, Lozano JJ, Muñoz J, Balaguer F, Pellisé M, Rodríguez de Miguel C, Andreu M, Jover R, Llor X, Giráldez MD, Ocaña T, Serradesanferm A, Alonso-Espinaco V, Jimeno M, Cuatrecasas M, Sendino O, Castellví-Bel S, Castells A. Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer. PloS One 2010, 5: e8777. PMID: 20098741, PMCID: PMC2808250, DOI: 10.1371/journal.pone.0008777.
  • Colorectal cancer prognosis twenty years later.Bujanda L, Sarasqueta C, Hijona E, Hijona L, Cosme A, Gil I, Elorza JL, Asensio JI, Larburu S, Enríquez-Navascués JM, Jover R, Balaguer F, Llor X, Bessa X, Andreu M, Paya A, Castells A. Colorectal cancer prognosis twenty years later. World Journal Of Gastroenterology : WJG 2010, 16: 862-7. PMID: 20143465, PMCID: PMC2825333, DOI: 10.3748/wjg.v16.i7.862.
  • Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: a two-stage case-control study.Fernández-Rozadilla C, Tarrío R, Clofent J, de Castro L, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: a two-stage case-control study. Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology 2010, 19: 619-23. PMID: 20142256, DOI: 10.1158/1055-9965.EPI-09-1175.
  • Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype.Abulí A, Bessa X, González JR, Ruiz-Ponte C, Cáceres A, Muñoz J, Gonzalo V, Balaguer F, Fernández-Rozadilla C, González D, de Castro L, Clofent J, Bujanda L, Cubiella J, Reñé JM, Morillas JD, Lanas A, Rigau J, García AM, Latorre M, Saló J, Fernández Bañares F, Argüello L, Peña E, Vilella A, Riestra S, Carreño R, Paya A, Alenda C, Xicola RM, Doyle BJ, Jover R, Llor X, Carracedo A, Castells A, Castellví-Bel S, Andreu M. Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. Gastroenterology 2010, 139: 788-96, 796.e1-6. PMID: 20638935, DOI: 10.1053/j.gastro.2010.05.072.
  • Extent of prevalence and size of flat neoplasms in a heterogeneous population undergoing routine colorectal cancer screening.Kim J, Rami P, O'Toole J, Llor X, Carroll RE, Benya RV. Extent of prevalence and size of flat neoplasms in a heterogeneous population undergoing routine colorectal cancer screening. Colorectal Disease : The Official Journal Of The Association Of Coloproctology Of Great Britain And Ireland 2010, 12: 471-6. PMID: 19298579, DOI: 10.1111/j.1463-1318.2009.01822.x.
  • "What the Primary Care Provider Needs to Know About Hereditary Colorectal Cancer"J Clin Outcomes Manage,16(12):1-9
  • Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.Giráldez MD, Balaguer F, Caldés T, Sanchez-de-Abajo A, Gómez-Fernández N, Ruiz-Ponte C, Muñoz J, Garre P, Gonzalo V, Moreira L, Ocaña T, Clofent J, Carracedo A, Andreu M, Jover R, Llor X, Castells A, Castellví-Bel S. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients. Familial Cancer 2009, 8: 525-31. PMID: 19685280, DOI: 10.1007/s10689-009-9282-4.
  • Regulation of colorectal cancer cell apoptosis by the n-3 polyunsaturated fatty acids Docosahexaenoic and Eicosapentaenoic.Giros A, Grzybowski M, Sohn VR, Pons E, Fernandez-Morales J, Xicola RM, Sethi P, Grzybowski J, Goel A, Boland CR, Gassull MA, Llor X. Regulation of colorectal cancer cell apoptosis by the n-3 polyunsaturated fatty acids Docosahexaenoic and Eicosapentaenoic. Cancer Prevention Research (Philadelphia, Pa.) 2009, 2: 732-42. PMID: 19638488, PMCID: PMC3793343, DOI: 10.1158/1940-6207.CAPR-08-0197.
  • The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status.Jover R, Zapater P, Castells A, Llor X, Andreu M, Cubiella J, Balaguer F, Sempere L, Xicola RM, Bujanda L, Reñé JM, Clofent J, Bessa X, Morillas JD, Nicolás-Pérez D, Pons E, Payá A, Alenda C. The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status. European Journal Of Cancer (Oxford, England : 1990) 2009, 45: 365-73. PMID: 18722765, DOI: 10.1016/j.ejca.2008.07.016.
  • Utility of p16 immunohistochemistry for the identification of Lynch syndrome.Payá A, Alenda C, Pérez-Carbonell L, Rojas E, Soto JL, Guillén C, Castillejo A, Barberá VM, Carrato A, Castells A, Llor X, Andreu M, Koh J, Enders GH, Benlloch S, Jover R. Utility of p16 immunohistochemistry for the identification of Lynch syndrome. Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research 2009, 15: 3156-62. PMID: 19383812, PMCID: PMC2825754, DOI: 10.1158/1078-0432.CCR-08-3116.
  • Aberrant crypt focus size predicts distal polyp histopathology.Kim J, Ng J, Arozulllah A, Ewing R, Llor X, Carroll RE, Benya RV. Aberrant crypt focus size predicts distal polyp histopathology. Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology 2008, 17: 1155-62. PMID: 18483337, DOI: 10.1158/1055-9965.EPI-07-2731.
  • A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening.Bessa X, Ballesté B, Andreu M, Castells A, Bellosillo B, Balaguer F, Castellví-Bel S, Paya A, Jover R, Alenda C, Titó L, Martinez-Villacampa M, Vilella A, Xicola RM, Pons E, Llor X. A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening. Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association 2008, 6: 206-14. PMID: 18096441, DOI: 10.1016/j.cgh.2007.10.011.
  • Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients.Balaguer F, Balmaña J, Castellví-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Syngal S, Castells A. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 2008, 134: 39-46. PMID: 18061181, PMCID: PMC2542581, DOI: 10.1053/j.gastro.2007.10.042.
  • Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients.Balmaña J, Balaguer F, Castellví-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Castells A, Syngal S. Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. Journal Of Medical Genetics 2008, 45: 557-63. PMID: 18603628, DOI: 10.1136/jmg.2008.059311.
  • Detection of metachronous neoplasms in colorectal cancer patients: identification of risk factors.Ballesté B, Bessa X, Piñol V, Castellví-Bel S, Castells A, Alenda C, Paya A, Jover R, Xicola RM, Pons E, Llor X, Cordero C, Fernandez-Bañares F, de Castro L, Reñé JM, Andreu M. Detection of metachronous neoplasms in colorectal cancer patients: identification of risk factors. Diseases Of The Colon And Rectum 2007, 50: 971-80. PMID: 17468913, DOI: 10.1007/s10350-007-0237-2.
  • Low adherence to colonoscopy in the screening of first-degree relatives of patients with colorectal cancer.Bujanda L, Sarasqueta C, Zubiaurre L, Cosme A, Muñoz C, Sánchez A, Martín C, Tito L, Piñol V, Castells A, Llor X, Xicola RM, Pons E, Clofent J, de Castro ML, Cuquerella J, Medina E, Gutierrez A, Arenas JI, Jover R. Low adherence to colonoscopy in the screening of first-degree relatives of patients with colorectal cancer. Gut 2007, 56: 1714-8. PMID: 17400596, PMCID: PMC2095719, DOI: 10.1136/gut.2007.120709.
  • Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study.Balaguer F, Castellví-Bel S, Castells A, Andreu M, Muñoz J, Gisbert JP, Llor X, Jover R, de Cid R, Gonzalo V, Bessa X, Xicola RM, Pons E, Alenda C, Payá A, Piqué JM. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association 2007, 5: 379-87. PMID: 17368238, DOI: 10.1016/j.cgh.2006.12.025.
  • Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer.Castellví-Bel S, Castells A, de Cid R, Muñoz J, Balaguer F, Gonzalo V, Ruiz-Ponte C, Andreu M, Llor X, Jover R, Bessa X, Xicola RM, Pons E, Alenda C, Payá A, Carracedo A, Piqué JM. Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer. Carcinogenesis 2007, 28: 1687-91. PMID: 17449901, DOI: 10.1093/carcin/bgm098.
  • Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors.Xicola RM, Llor X, Pons E, Castells A, Alenda C, Piñol V, Andreu M, Castellví-Bel S, Payá A, Jover R, Bessa X, Girós A, Duque JM, Nicolás-Pérez D, Garcia AM, Rigau J, Gassull MA. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. Journal Of The National Cancer Institute 2007, 99: 244-52. PMID: 17284719, DOI: 10.1093/jnci/djk033.
  • Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer: proposal of a new and simpler set of recommendations.Rodríguez-Moranta F, Castells A, Andreu M, Piñol V, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Jover R, Payá A, Bessa X, Balaguer F, Cubiella J, Argüello L, Morillas JD, Bujanda L. Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer: proposal of a new and simpler set of recommendations. The American Journal Of Gastroenterology 2006, 101: 1104-11. PMID: 16696788, DOI: 10.1111/j.1572-0241.2006.00522.x.
  • Detection of BRAF V600E mutation in colorectal cancer: comparison of automatic sequencing and real-time chemistry methodology.Benlloch S, Payá A, Alenda C, Bessa X, Andreu M, Jover R, Castells A, Llor X, Aranda FI, Massutí B. Detection of BRAF V600E mutation in colorectal cancer: comparison of automatic sequencing and real-time chemistry methodology. The Journal Of Molecular Diagnostics : JMD 2006, 8: 540-3. PMID: 17065421, PMCID: PMC1876165, DOI: 10.2353/jmoldx.2006.060070.
  • Cyclooxygenase 2 expression in colorectal cancer with DNA mismatch repair deficiency.Castells A, Payá A, Alenda C, Rodríguez-Moranta F, Agrelo R, Andreu M, Piñol V, Castellví-Bel S, Jover R, Llor X, Pons E, Elizalde JI, Bessa X, Alcedo J, Saló J, Medina E, Naranjo A, Esteller M, Piqué JM. Cyclooxygenase 2 expression in colorectal cancer with DNA mismatch repair deficiency. Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research 2006, 12: 1686-92. PMID: 16551850, DOI: 10.1158/1078-0432.CCR-05-1581.
  • Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer.Jover R, Zapater P, Castells A, Llor X, Andreu M, Cubiella J, Piñol V, Xicola RM, Bujanda L, Reñé JM, Clofent J, Bessa X, Morillas JD, Nicolás-Pérez D, Payá A, Alenda C. Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut 2006, 55: 848-55. PMID: 16299036, PMCID: PMC1856227, DOI: 10.1136/gut.2005.073015.
  • Predictive value of microsatellite instability for benefit from adjuvant fluorouracil chemotherapy in colorectal cancer.Jover R, Castells A, Llor X, Andreu M. Predictive value of microsatellite instability for benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut 2006, 55: 1819-20. PMID: 17124161, PMCID: PMC1856450, DOI: 10.1136/gut.2006.105627.
  • Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005, 293: 1986-94. PMID: 15855432, DOI: 10.1001/jama.293.16.1986.
  • Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway.Llor X, Pons E, Xicola RM, Castells A, Alenda C, Piñol V, Andreu M, Castellví-Bel S, Payá A, Jover R, Bessa X, Girós A, Roca A, Gassull MA. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research 2005, 11: 7304-10. PMID: 16243801, DOI: 10.1158/1078-0432.CCR-05-0965.
  • The effects of fish oil, olive oil, oleic acid and linoleic acid on colorectal neoplastic processes.Llor X, Pons E, Roca A, Alvarez M, Mañé J, Fernández-Bañares F, Gassull MA. The effects of fish oil, olive oil, oleic acid and linoleic acid on colorectal neoplastic processes. Clinical Nutrition (Edinburgh, Scotland) 2003, 22: 71-9. PMID: 12553953, DOI: 10.1054/clnu.2002.0627.
  • [Role of dietary lipids in the mechanisms of inflammation, proliferation, differentiation and cell death in the gastrointestinal tract].Llor X. [Role of dietary lipids in the mechanisms of inflammation, proliferation, differentiation and cell death in the gastrointestinal tract]. Gastroenterologia Y Hepatologia 2003, 26: 507-13. PMID: 14534023, DOI: 10.1016/s0210-5705(03)70402-6.
  • BRK/Sik expression in the gastrointestinal tract and in colon tumors.Llor X, Serfas MS, Bie W, Vasioukhin V, Polonskaia M, Derry J, Abbott CM, Tyner AL. BRK/Sik expression in the gastrointestinal tract and in colon tumors. Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research 1999, 5: 1767-77. PMID: 10430081.
  • Tissue and cell-specific patterns of expression of rat liver and intestinal fatty acid binding protein during development and in experimental colonic and small intestinal adenocarcinomas.Davidson NO, Ifkovits CA, Skarosi SF, Hausman AM, Llor X, Sitrin MD, Montag A, Brasitus TA. Tissue and cell-specific patterns of expression of rat liver and intestinal fatty acid binding protein during development and in experimental colonic and small intestinal adenocarcinomas. Laboratory Investigation; A Journal Of Technical Methods And Pathology 1993, 68: 663-75. PMID: 8515653.
  • K-ras mutations in 1,2-dimethylhydrazine-induced colonic tumors: effects of supplemental dietary calcium and vitamin D deficiency.Llor X, Jacoby RF, Teng BB, Davidson NO, Sitrin MD, Brasitus TA. K-ras mutations in 1,2-dimethylhydrazine-induced colonic tumors: effects of supplemental dietary calcium and vitamin D deficiency. Cancer Research 1991, 51: 4305-9. PMID: 1868452.
  • Mutations in the K-ras oncogene induced by 1,2-dimethylhydrazine in preneoplastic and neoplastic rat colonic mucosa.Jacoby RF, Llor X, Teng BB, Davidson NO, Brasitus TA. Mutations in the K-ras oncogene induced by 1,2-dimethylhydrazine in preneoplastic and neoplastic rat colonic mucosa. The Journal Of Clinical Investigation 1991, 87: 624-30. PMID: 1991846, PMCID: PMC296352, DOI: 10.1172/JCI115039.
  • Effect of polyamine oxidase inhibition on the colonic malignant transformation process induced by 1,2-dimethylhydrazine.Halline AG, Dudeja PK, Jacoby RF, Llor X, Teng BB, Chowdhury LN, Davidson NO, Brasitus TA. Effect of polyamine oxidase inhibition on the colonic malignant transformation process induced by 1,2-dimethylhydrazine. Carcinogenesis 1990, 11: 2127-32. PMID: 2265465, DOI: 10.1093/carcin/11.12.2127.
  • Colorectal Cancer Risk in Lynch Syndrome: Of Genes and More.Mezzacappa C, Llor X. Colorectal Cancer Risk in Lynch Syndrome: Of Genes and More. Gastroenterology 2022, 162: 1358-1360. PMID: 34863785, DOI: 10.1053/j.gastro.2021.11.032.
  • Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers.Grant A, Xicola RM, Nguyen V, Lim J, Thorne C, Salhia B, Llor X, Ellis N, Padi M. Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers. Scientific Reports 2021, 11: 23507. PMID: 34873211, PMCID: PMC8648784, DOI: 10.1038/s41598-021-02806-x.
  • xDEEP-MSI: Explainable Bias-Rejecting Microsatellite Instability Deep Learning System in Colorectal Cancer.Bustos A, Payá A, Torrubia A, Jover R, Llor X, Bessa X, Castells A, Carracedo Á, Alenda C. xDEEP-MSI: Explainable Bias-Rejecting Microsatellite Instability Deep Learning System in Colorectal Cancer. Biomolecules 2021, 11 PMID: 34944430, PMCID: PMC8699085, DOI: 10.3390/biom11121786.
  • Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants.Lerner BA, Xicola RM, Rodriguez NJ, Karam R, Llor X. Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants. Journal Of Medical Genetics 2022 PMID: 35078942, DOI: 10.1136/jmedgenet-2021-108169.
  • Mutational 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, DOI: 10.1038/s41416-022-01754-1.
  • NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.Weiss JM, Gupta S, Burke CA, Axell L, Chen LM, Chung DC, Clayback KM, Dallas S, Felder S, Gbolahan O, Giardiello FM, Grady W, Hall MJ, Hampel H, Hodan R, Idos G, Kanth P, Katona B, Lamps L, Llor X, Lynch PM, Markowitz AJ, Pirzadeh-Miller S, Samadder NJ, Shibata D, Swanson BJ, Szymaniak BM, Wiesner GL, Wolf A, Yurgelun MB, Zakhour M, Darlow SD, Dwyer MA, Campbell M. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021. Journal Of The National Comprehensive Cancer Network : JNCCN 2021, 19: 1122-1132. PMID: 34666312, DOI: 10.1164/jnccn.2021.0048.

Clinical Trials

ConditionsStudy Title
Diseases of the Digestive System - Small Intestines, Large Intestines & RectumClinical Validation of An Optimized Multi-Target Stool DNA (Mt-sDNA 2.0) Test, for Colorectal Cancer Screening "BLUE-C"
Diseases of the Digestive System - Small Intestines, Large Intestines & RectumEvaluation of the ctDNA LUNAR Test in an Average Patient Screening Episode (ECLIPSE)
Diseases of the Digestive System - Small Intestines, Large Intestines & RectumBlood and Stool Sample Collection in Subjects with a Diagnosis of Colorectal Cancer or Colorectal Lesion 2018-07 Act Fast
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