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Content archived on 2024-06-18

Genetic study of Common Hereditary Bowel Cancers in Hispania and the Americas

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Genetic predisposition in colorectal cancer

Genetic predisposition is gaining ground among scientists endeavouring to understand the complex aetiology of cancer. The CHIBCHA consortium set out to develop a polymorphism panel for predicting the risk of colorectal cancer (CRC) in the general population.

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Cancer is a multifactorial disease influenced by environmental, lifestyle and genetic factors. CRC is characterised by poor outcomes and recent studies show an association of CRC risk with common inherited single nucleotide polymorphisms (SNPs) on various chromosomes. Other genome-wide association studies (GWAS) on European populations are trying to identify the remaining common CRC genes. The EU-funded CHIBCHA project proposes to use Latin American populations to detect SNPs unique to Latin Americans and SNPs common to Europeans and Latin Americans. To this end, over 2 000 samples will be used with matched controls. The specific objectives and expected results of the project are summarised online Partners have completed the collection of samples from Brazil, Colombia, Mexico and Portugal. Currently, they are testing the known CRC predisposition genes and SNPs common in Latin America. For this purpose, they have chosen a platform with about 600 000 SNPs from the Latino population and a similar number of custom SNPs. Samples showing uncommon coding variants will also be genotyped and compared with European or Latin American counterparts. Additionally, the consortium will develop a method based on SNP genotyping to assess the copy number variations in specific allelles. Taken together, CHIBCHA study efforts aim to identify CRC predisposition genes in the European and Latin American populations. These functional polymorphisms could be used in the future to screen individuals for risk of developing CRC.

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