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Hereditary Cancer in Clinical Practice

Open Access

Cumulative small effect genetic markers and the detection of advanced colorectal neoplasias by population screening

  • A Kurlapska1,
  • P Serrano-Fernández1,
  • T Starzyńska2,
  • E Małecka-Panas3,
  • G A Dąbrowski4,
  • T Dębniak1,
  • G Kurzawski1,
  • J Suchy1,
  • W Rogoza-Mateja2,
  • R J Scott5 and
  • J Lubiński1
Contributed equally
Hereditary Cancer in Clinical Practice201210(Suppl 4):A26

Published: 10 December 2012


Colorectal CancerGenetic MarkerRisk ModelScreening StrategyCumulate Risk

With the instigation of population screening strategies to reduce the burden of colorectal cancer, a cost effective approach remains an elusive goal. Genetic markers associated with colorectal cancer have the potential to be used for the early identification of patient groups at elevated risk of disease. The choice of genetic markers that can be used for screening purposes is population specific.

In this report we have genotyped 3059 individuals for 13 markers that have been associated with colorectal cancer risk. The participants underwent colonoscopy and controls with clear colonoscopy (1838) were compared to cases with advanced colorectal neoplasia (213). Logistic regression analysis, adjusted for sex and age at colonoscopy, showed that only one of the markers (rs4779584) was significantly associated with the risk of advanced colorectal neoplasia (OR = 1.93; 95% CI = 1.22 – 2.99; p-value = 0.004; sensitivity = 20%). A combination of 7 markers (rs4779584, rs2578187, rs3802842, rs6983267, NOD2 5020insC, rs4464148 and rs4939827) showed an optimal trade-off minimizing the number of markers considered, while maximizing the relative size of the carrier group and the risk associated to it (e.g. for at least 4 cumulated risk markers, OR = 4.23; 95% CI = 1.5 – 10.4; p-value = 0.0036; sensitivity = 4.7%). For this combination of 7 markers the linear cumulative risk model was statistically significant (p=7.0·10-5) after adjustment for sex and age at colonoscopy.

The identification of such cumulative models could be valuable in better defining a group of persons, within a given population, that are most likely to benefit from screening for colorectal cancer.


Authors’ Affiliations

Department of Genetics and Pathomorphology of the Pomeranian Medical University, Szczecin, Poland
Department of Gastroenterology, Pomeranian Medical University, Szczecin, Poland
Department of Digestive Tract Diseases, Faculty of Medicine, Medical University of Łódź, Poland
Department of Gastroenterology and Internal Medicine, Medical University of Białystok, Poland
School of Biomedical Sciences and Pharmacy, University of Newcastle, Australia


© Kurlapska et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.