[Genetic screening of colorrectal neoplasms through fecal DNA analysis]

Cuadros M, Villegas Portero R
Record ID 32011000627
Authors' recommendations: There are 25,000 cases of colorectal cancer (CRC) diagnosed each year in Spain. This type of neoplasia is the second leading cause of death from cancer, after lung cancer in men and breast cancer in women. The mortality induced by this cancer is 10 deaths per 100,000 inhabitants/year and with an increasing trend. Mortality and morbidity induced by CRC could be reduced substantially if early diagnosis of the disease was achieved through large-scale screening tests on the general population. Nevertheless, the rate of participation in CRC screening, mainly by colonoscopy, is low, particularly if compared with those for breast and cervical cancer. This fact must be due, among other reasons, to the discomfort generated in the patients, the high cost, the lack of awareness and, in general, to the low acceptability of the screening methods. For these reasons, one of the high priority objectives of Health Services is the search for non-invasive techniques for the early detection of CRC that are more acceptable to most of the population. The analysis of faecal DNA is one of the non-invasive techniques currently available. It is based on the stability of the DNA in cells that have been shed from premalignant polyps and tumours into the stool. This DNA can be studied in faecal samples. Mutations, microsatellite instability (MSI) and epigenetic changes in genes such as APC, p53, K-ras, BAT-26, p16, and DNA integrity can be analysed.One of the systems marketed to study these genetic alterations, which do not replace colonoscopy, is PreGen-PlusTM that detects 21 of the most frequent mutations in the APC, K-ras and p53 genes, BAT-26 microsatellite instability and DNA integrity. However, these and other faecal DNA analyses can be undertaken independently to PreGen-PlusTM in other molecular biology laboratories, although these would have to have extremely good protocols and be accredited
Project Status: Completed
Year Published: 2010
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Spain
MeSH Terms
  • Colorectal Neoplasms
  • DNA, Neoplasm
  • Mass Screening
Organisation Name: Andalusian Health Technology Assessment Area
Contact Address: Area de Evaluacion de Tecnologias Sanitarias Sanitarias de Andalucia (AETSA) Avda. InnovaciĆ³n, s/n Edificio Arena 1. Sevilla (Spain) Tel. +34 955 006 309
Contact Name: aetsa.csalud@juntadeandalucia.es
Contact Email: aetsa.csalud@juntadeandalucia.es
Copyright: Andalusian Agency for Health Technology Assessment (AETSA)
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