Le cancer colorectal hereditaire non polyposique: aspects genetiques et perspectives de depistage moleculaire. [Hereditary nonpolyposis colorectal cancer: genetics and prospective molecular screening]

Détails

ID Serval
serval:BIB_441CD2BF9A8D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Le cancer colorectal hereditaire non polyposique: aspects genetiques et perspectives de depistage moleculaire. [Hereditary nonpolyposis colorectal cancer: genetics and prospective molecular screening]
Périodique
Schweizerische Rundschau fur Medizin Praxis
Auteur⸱e⸱s
Hutter  P., Schorderet  D. F.
ISSN
1013-2058 (Print)
Statut éditorial
Publié
Date de publication
08/1996
Volume
85
Numéro
35
Pages
1046-51
Notes
English Abstract
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Aug 27
Résumé
Each year 3500 new cases of colorectal cancer (13% of total cancer cases) are registered in Switzerland. A yet unknown proportion of these cancers is associated with recently discovered gene defects in one of at Peast 4 genes participating together in an essential process. The function of these genes aims at the correction of certain erroneous hereditary informations that may occur when bases are not or mis-aligned. Mutations leading to anomalies in the expression of one of these genes favour strongly the development of certain early carcinomas, because they lead to an accelerated accumulation of further mutations expected to trigger carcinogenesis. It is estimated that about 2-3/1000 of the population carries a gene error typically manifested as the so called Lynch Syndrome, that concerns not only the colon but also the uterus, ovaries, the urogenital tract and diverse parts of the gastro-intestinal tract. The first observation which led the identification of these genes was a genetic instability within tumor cells showing a distinctly increased mutation rate in many different locations of the genome. Molecular identification of a factor predisposing to malignancy in one of these repair genes permits on one hand to abolish unnecessary investigations in members of families at risk that could be identified as non-carriers of this incriminating mutation and on the other hand to concentrate medical attention on carriers.
Mots-clé
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics Genetic Techniques Humans Pedigree Point Mutation
Pubmed
Création de la notice
28/01/2008 13:59
Dernière modification de la notice
20/08/2019 14:48
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