Xavier Llor, MD, PhD

Associate Professor of Medicine (Digestive Diseases); Medical Director, Colorectal Cancer Prevention Program; Co-Director, Cancer Genetics and Prevention Program

Research Interests

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

Public Health Interests

Cancer Epidemiology; Cancer genetics; Health Disparities; Nutrition

Research Organizations

Internal Medicine: Digestive Diseases

Faculty Research

Yale Cancer Center: Genomics, Genetics, and Epigenetics

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. Hi 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

A clinically active gastroenterologist, my research and clinical interests relate to colorectal cancer. I have been conducting basic and translational research for over 15 years, first in Spain and over the last 7 years in the USA, first in Chicago and since March 2014 at Yale University. While in Spain I was responsible for the development and implementation of two large prospective cohorts of CRC patients, Epicolon I and II. These studies included the systematic enrollment of over 2,000 newly diagnosed CRC and 1,000 controls in 25 hospitals all over Spain. Epicolon I collected complete clinical and pedigree data, with a 5 year follow up, as well as tumor DNA and non-involved colonic tissue. Epicolon II also included germline DNA, as well as tumor RNA and proteins. Studies with these two cohorts have resulted in over 25 peer-reviewed publications. Along with Dr. Nathan Ellis we recently completed an ambitious study in Chicago, the Chicago Colorectal Cancer Consortium (CCCC). The study has a retrospective and a prospective component. The CCCC enrolled newly diagnosed CRC patients and controls from five large hospitals in the Chicago area: University of Illinois at Chicago, Jesse Brown Veterans Hospital, Rush University Medical Center, Stroger Hospital of Cook County, and University of Chicago. A robust and unified database and tissue repository system were established. Extensive demographic, clinical data, family history, nutritional data, toxics exposure were collected along with germline DNA, serum and plasma, tumor and non-involved tissue for DNA, RNA and protein extraction. A wealth of findings is resulting in the publication and preparation of several manuscripts.

Since our description of the incidence and clinical features of mismatch repair proficient hereditary CRC families (MSS-HNPCC) in a population based cohort, my group has continued working on the study of the carcinogenic processes involved in these cancers, as well as the genetic basis underlying CRC in these families. Some novel and exciting findings are currently under review in peer reviewed journals

  1. Genetic defects responsible for hereditary non-polyposis colorectal cancer without mismatch repair deficiency and carcinogenic development of its tumors
  2. DNA repair germline defects in familial colorectal cancer
  3. Molecular phenotype of colorectal cancers in African Americans
  4. Hereditary colorectal cancer in African Americans
  5. miRNA biomarkers in colorectal cancer
  6. Genetic variants and colorectal cancer risk

Selected Publications

Full List of PubMed Publications

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Contact Info

Xavier Llor, MD, PhD
Patient Care Location
Cancer Genetics and Prevention ProgramYale New Haven Hospital Saint Raphael Campus
1450 Chapel Street, Ste 107/109

New Haven, CT 06511
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Mailing Address
Digestive Diseases333 Cedar Street/LMP 1080
PO Box 208019

New Haven, CT 06520-8019