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Intestinal polyps --- Intestines --- Intestins --- Diseases --- Polypes --- Maladies --- Adenomatous Polyposis Coli --- Intestina Polyposis

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La polypose adénomateuse familiale est une maladie héréditaire dont la fréquence est de 1/10000 et le mode de transmission est dominant autosomique. Les symptômes de cette maladie apparaissent après deux ou trois décennies et les tumeurs colorectales doivent être éliminées par traitement chirurgical.
La découverte du locus lié à cette maladie à d’emblée permis à la recherche, de s’orienter vers l’établissement de méthodes de dépistage des individus ayant une copie altérée du gène (appelé gène APC) responsable, permettant d’accentuer le plus possible le diagnostic pré-symptomatique. Ces méthodes de dépistage sont effectuées parallèlement à des dépistages indirects utilisés en routine au laboratoire, il s’agit de l’étude des polymorphismes des restrictions et de l’étude des microsatellites qui mettent en évidence des polymorphismes de répétition. L’analyse des polymorphismes de restriction dans cinq familles a montré la difficulté à établir un diagnostic lorsque les sondes n’étaient pas informatives ou lorsqu’une famille ne compte qu’un seul patient atteint. Le diagnostic établi tient compte du % de recombinaison entre sondes et gène, et est de ce fait jamais totalement rassurant pour les patients « à risque » si l’informativité n’est pas située de part et d’autre du gène. Nous avons également procédé à l’étude des microsatellites pour deux de nos familles. Dans notre étude, ce sont des répétitions de doublets A-T et C-A en liaison avec le gène qui sont utilisés. Les résultats ont montré que ce type d’analyse ne permet pas toujours d’établir un diagnostic génétique précis, et doit être interprété parallèlement à l’étude des polymorphismes de restriction et au diagnostic clinique (observation des plages d’hypertrophie de l’épithélium rétinien).
Nous avons également entrepris d’analyser nos patients au niveau du gène responsable de la polypose, appliquant une méthode de détection des mutations dans ce gène. Découvert en 1991, il est constitué de 15 exons. La méthode choisie est basée sur la recherche de la modification de conformères d’ADN simple brin (méthode SSCP). Nous avons choisi d’étudier les 23 patients atteints non apparentés dans les fragments F et G de l’exon 15. Bien que plusieurs types de migration furent effectuées, aucune différence significative de conformation ne fut mise en évidence pour les sous-fragments F. Par contre, pour le fragment 15-G, quatre patients FAP ont montré des modifications de mobilité électro-phorétique bien visibles. Deux patients FAP semblent présenter des modifications identiques. Toutes les modifications se sont révélées être transmises de façon mendélienne dans les 4 familles respectives, ce qui a pu mener à établir un diagnostic définitif chez tous les patients « à risque ». Il s’est finalement avéré que les bandes obtenues par détection ne sont pas dues à des changements de conformation de l’ADN simple brin ; il s’agit d’hétéro duplex formé lors de la réaction d’amplification.
Le séquençage direct après amplification a démontré que deux des quatre patients portent bien une mutation à l’état hétérozygote, une double séquence ayant été révélée. La lecture de cette séquence fut difficile ; elle a permis de localiser l’altération au codon 1309 du gène APC, mais non d’identifier avec certitude la nature des mutations respectives.

Adenomatous Polyposis Coli --- Genes, APC --- Antigens, Neoplasm --- Genetics, Biochemical --- Medical Laboratory Science

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The initial identification of the Adenomatous polyposis coli (Apc) gene as the site of mutations in familial adenomatous polyposis (FA P) was described in 1992. A causal relationship between Apc mutations and intestinal tract tumours was confirmed three years later with the establishment of the Min mouse model. These mice are heterozygous for Apc and develop numerous intestinal tumours that mimic FA P. Subsequently, Apc has emerged as the most commonly mutated gene in colorectal cancer with reports varying between 50-80 per cent of sporadic tumours carrying such mutations. The search for how m

Adenomatous Polyposis Coli Protein. --- Adenomatous Polyposis Coli. --- Colon (Anatomy) -- Cancer. --- Colorectal Neoplasms -- Metabolism. --- Genes, APC. --- Tumor suppressor proteins. --- Colon (Anatomy) --- Tumor suppressor proteins --- Adenomatous Polyposis Coli --- Colorectal Neoplasms --- Genes, APC --- Metabolism --- Adenomatous Polyposis Coli Protein --- Intestinal Polyposis --- Intestinal Neoplasms --- Colonic Neoplasms --- Neoplastic Syndromes, Hereditary --- Colonic Diseases --- Metabolic Phenomena --- Cytoskeletal Proteins --- Genes, Tumor Suppressor --- Tumor Suppressor Proteins --- Rectal Diseases --- Adenomatous Polyps --- Proteins --- Neoplasm Proteins --- Intestinal Diseases --- Neoplasms --- Genes, Neoplasm --- Phenomena and Processes --- Gastrointestinal Neoplasms --- Genes, Recessive --- Adenoma --- Genetic Diseases, Inborn --- Gastrointestinal Diseases --- Digestive System Neoplasms --- Genes --- Diseases --- Neoplasms, Glandular and Epithelial --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Amino Acids, Peptides, and Proteins --- Chemicals and Drugs --- Digestive System Diseases --- Genome Components --- Neoplasms by Site --- Neoplasms by Histologic Type --- Genome --- Genetic Structures --- Genetic Phenomena --- Oncology --- Medicine --- Health & Biological Sciences --- Cancer --- Cancer. --- Antioncoproteins --- Growth suppressor proteins --- Metastasis suppressor proteins --- Colon cancer --- Colorectal cancer --- Medicine. --- Biomedicine. --- Biomedicine general. --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Antioncogenes --- Health Workforce --- Biomedicine, general.

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Early detection of colorectal cancers is a significant and relatively recent achievement. Persons who carry genetic mutations linked to hereditary colorectal cancer make up 20% of the patient population. With the advent of molecular genetics and the description of hereditary colorectal cancer syndromes, clinicians and genetic counselors are able to use genetic predisposition testing as an effective and important way to identify patients and families affected by inherited colorectal cancer syndromes. Hereditary Colorectal Cancer is a comprehensive collection that documents not only Familial Adenomatous Polyposis and the Lynch syndrome, but also less understood syndromes, including the Hamartomatous Polyposis Syndromes and MutYH Associated Polyposis. Internationally recognized clinicians and researchers further delve into the evolution and potential of syndromes, genes and molecular alterations that have yet to be defined. Instrumental experts in this field of discovery were carefully selected by the section editors to create this premier reference work for clinicians, scientists and researchers confronted with the treatment and management of hereditary colorectal cancer.

Medicine & Public Health. --- Oncology. --- Surgical Oncology. --- Gastroenterology. --- Medicine. --- Cancer --- Médecine --- Gastroentérologie --- Cancérologie --- Surgery. --- Chirurgie --- Colon (Anatomy) --- Genetic disorders. --- Rectum --- Colorectal Neoplasms --- Adenomatous Polyposis Coli. --- Colorectal Neoplasms, Hereditary Nonpolyposis. --- Genetic Counseling. --- Genetic aspects. --- genetics. --- Colon (Anatomy) -- Cancer. --- Rectum -- Cancer. --- Genetic disorders --- Neoplastic Syndromes, Hereditary --- Intestinal Neoplasms --- Colonic Neoplasms --- Rectal Diseases --- Adenomatous Polyps --- Biology --- Intestinal Polyposis --- Genetic Services --- Colonic Diseases --- DNA Repair-Deficiency Disorders --- Genetics, Medical --- Intestinal Diseases --- Metabolic Diseases --- Gastrointestinal Neoplasms --- Health Services --- Adenoma --- Neoplasms --- Genetic Diseases, Inborn --- Biological Science Disciplines --- Adenomatous Polyposis Coli --- Colorectal Neoplasms, Hereditary Nonpolyposis --- Genetic Counseling --- Genetics --- Neoplasms, Glandular and Epithelial --- Gastrointestinal Diseases --- Digestive System Neoplasms --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Health Care Facilities, Manpower, and Services --- Nutritional and Metabolic Diseases --- Natural Science Disciplines --- Digestive System Diseases --- Neoplasms by Histologic Type --- Health Care --- Neoplasms by Site --- Disciplines and Occupations --- History & Archaeology --- Medicine --- Health & Biological Sciences --- Oncology --- History - General --- Genetic aspects --- Cancer. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Colorectal cancer --- Rectal cancer --- Colon cancer --- Surgical oncology. --- Medical genetics --- Oncology  . --- Oncologic surgery --- Oncological surgery --- Surgical oncology --- Tumors --- Internal medicine --- Digestive organs --- Excision --- Treatment --- Gastroenterology .

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Colorectal Neoplasms, Hereditary Nonpolyposis --- Duodenal Neoplasms --- Colectomy --- Adenomatous Polyposis Coli --- Decision Support Techniques. --- Analysis, Decision --- Clinical Prediction Rule --- Decision Aids --- Decision Support Technics --- Decision Analysis --- Decision Modeling --- Models, Decision Support --- Aid, Decision --- Aids, Decision --- Analyses, Decision --- Clinical Prediction Rules --- Decision Aid --- Decision Analyses --- Decision Support Model --- Decision Support Models --- Decision Support Technic --- Decision Support Technique --- Model, Decision Support --- Modeling, Decision --- Prediction Rule, Clinical --- Prediction Rules, Clinical --- Rule, Clinical Prediction --- Rules, Clinical Prediction --- Technic, Decision Support --- Technics, Decision Support --- Technique, Decision Support --- Techniques, Decision Support --- Clinical Decision-Making --- Decision Making --- Decision Making, Organizational --- drug therapy. --- surgery. --- mortality. --- complications. --- Theses --- 681.3*D3 --- 681.3*D3 Programming languages --- Programming languages --- Decision Support Techniques --- drug therapy --- surgery --- mortality --- complications