Lynch syndrome, or hereditary nonpolyposis colorectal cancer, explains between 1 and 3% of CRCs. In this syndrome, cancer occurs in younger people, and therefore, early diagnosis is particularly important. For every case of Lynch syndrome detected can be identified two or three asymptomatic cases in the family, which would enter into a monitoring program more comprehensive than the used in the general population. Around 80% of mutation carriers will develop cancer of the colon or rectum, and most of them will have it before 70 years of age. In Spain, 30,000 new cases of colorectal cancer are detected every year. Up to 900 of these cases could be due to the Lynch syndrome.
The study, published in JAMA and written together with Dr. Francesc Balaguer, compared the effectiveness of the most widely used clinical strategies in colon cancer, Revised Bethesda Guidelines and Jerusalem recommendations, with the application in all patients with CRC of a test in the tumor (immunohistochemistry or microsatellite instability) that identifies patients carrying mutations associated with Lynch syndrome.
This test was applied to the largest sample ever used for the study of this syndrome, and joined more than 10,000 cases in the context of an international consortium coordinated by Dr. Antoni Castells, director of the Institute for Digestive and Metabolic Diseases at Hospital Clínic (ICMDM) and principal investigator of the study. Revised Bethesda Guidelines, dating from 2004, did not detected 12% of cases of Lynch syndrome. Jerusalem recommendations, was insufficient in 15% of cases. As suspected, performing the test tumor in all CRC cases achieved 100% sensitivity for detecting patients carrying mutations associated with Lynch syndrome.
Dr. Moreira is currently at the University of Pennsylvania in Philadelphia (USA) for a postdoctoral fellowship. She is broadening her research field with the study of hereditary pancreatic and stomach cancer.
Leticia Moreira, MD; Francesc Balaguer, MD, PhD; Noralane Lindor, MD; Albert de la Chapelle, MD, PhD; Heather Hampel, MS; Lauri A. Aaltonen, MD, PhD; John L. Hopper, PhD; Loic Le Marchand, MD, PhD; Steven Gallinger, MD; Polly A. Newcomb, PhD, MPH; Robert Haile, PhD; Stephen N. Thibodeau, PhD; Shanaka Gunawardena, PhD; Mark A. Jenkins, PhD; Daniel D. Buchanan, PhD; John D. Potter, MD, PhD; John A. Baron, MD; Dennis J. Ahnen, MD; Victor Moreno, MD, PhD; Montserrat Andreu, MD, PhD; Maurizio Ponz de Leon, MD; Anil K. Rustgi, MD, PhD; Antoni Castells, MD, PhD ; for the EPICOLON Consortium
JAMA. 2012;308(15):1555-1565. doi:10.1001/jama.2012.13088.