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Xavier Llor, MD, PhD

Professor of Medicine
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Additional Titles

Director, GI and Pancreatic Cancer Prevention Program, Digestive Diseases

Contact Info

Yale School of Medicine

Department of Medicine (Digestive Diseases), PO Box 208019

New Haven, CT 06520-8019

United States

About

Titles

Professor of Medicine

Director, GI and Pancreatic Cancer Prevention Program, Digestive Diseases

Biography

After obtaining his MD degree from the Autonomous University Barcelona, Dr. Llor trained in basic research and Internal Medicine at the University of Chicago and completed his GI fellowship at the University of Illinois at Chicago. He complemented his training with a PhD degree in molecular biology from the University of Barcelona. A clinically active gastroenterologist, Dr. Llor’s research and clinical interests relate to gastrointestinal cancer prevention. He has a very active basic and translational research program mainly focusing on three different aspects of gastrointestinal cancer: hereditary and familial forms, screening and prevention, and disparities. This work has resulted in over 100 scientific publications in this field. He has made seminal contributions to the fields of Lynch syndrome and other non-polyposis syndromic colorectal cancer cases, diffuse gastric and lobular breast cancer syndrome (DGLBC), and systematic approaches to inherited cancers. Some of his most recent work is providing important clues to the understanding of the biological differences that contribute to disparities in colorectal cancer. Watch a video with Dr. Xavier Llor >>

Dr. Llor is Chair of Practice Implementation & Professional Education (PEPI) Health Systems of the American Cancer Society-CDC National Colorectal Cancer Round Table (NCCRT); vice-Chair of the colorectal cancer screening panel; and member of the Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric panel of the National Comprehensive Cancer Network (NCCN) guidelines. He is commonly invited to lecture in gastrointestinal cancer genetics in the US and abroad.

Appointments

Education & Training

PhD
University of Barcelona, Molecular Biology (1999)
Fellowship
University of Illinois (1997)
Residency
Lutheran General Hospital-University of Chicago Program C (1994)
MD
University of Barcelona (1986)

Research

Overview

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.

Medical Subject Headings (MeSH)

Black or African American; Colorectal Neoplasms; Digestive System Neoplasms; Genetics, Medical; Genetics, Population; Lynch Syndrome II

Research at a Glance

Yale Co-Authors

Frequent collaborators of Xavier Llor's published research.

Publications

2024

2023

2022

2021

Clinical Trials

Current Trials

Academic Achievements & Community Involvement

  • activity

    American Gastroenterological Association

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    American Gastroenterological Association

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    American Association for Cancer Research

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    American Gastrointestinal Association

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    Practice Update

Clinical Care

Overview

Xavier Llor, MD, PhD, is a gastroenterologist at Yale Medicine with a specialty in gastrointestinal cancer genetics and colorectal cancer prevention. He is the medical director of the Colorectal Cancer Prevention Program and director of the Gastrointestinal (GI) & Pancreatic Cancer Prevention Program. Within the latter, he leads the Lynch Syndrome and Polyposis Clinic and the Hereditary Gastric Cancer clinic.

After receiving a medical school education from the Autonomous University in Barcelona, Dr. Llor trained in basic research and internal medicine at the University of Chicago and completed his PhD in molecular biology from the University of Barcelona. Dr. Llor completed his GI fellowship at the University of Illinois at Chicago. His background as both a clinician and researcher led him to specialize in cancer genetics, where he works to identify specific genes that make a person more susceptible to gastrointestinal cancers. “One of the most rewarding things about this field is that every day we seem to discover more, and that knowledge is translated very quickly into patients’ lives,” says Dr. Llor.

As a physician, Dr. Llor uses his research to better care for his patients. The goal is to identify cancer risk as early as possible. This knowledge can help patients take measures to prevent cancer, or it can help doctors treat patients with cancer as early as possible. “The earlier a cancer is detected, the better the prognosis is,” says Dr. Llor.

In addition, genetic defects that are linked to gastrointestinal cancers may also be linked to cancers in other parts of the body. “We take a broad and comprehensive approach to patients in making sure that we prevent all cancers that are linked to those particular genetic defects,” says Dr. Llor.

As a researcher, Dr. Llor continues to identify new genetic defects that may be linked to colorectal and other GI cancer risk. Furthermore, he is exploring different approaches that lead to a wider identification of these diseases, with a particular emphasis in disseminating this specialized care among the underserved. He has made important contributions to the field of Lynch syndrome (a hereditary form of colorectal cancer) and diffuse gastric and lobular breast cancer syndrome.

Dr. Llor is a professor of medicine (digestive diseases) at Yale School of Medicine.

Clinical Specialties

Genetics; Gastroenterology; Gastrointestinal Oncology

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Yale School of Medicine

Department of Medicine (Digestive Diseases), PO Box 208019

New Haven, CT 06520-8019

United States

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