I test genetici nel cancro del colon

Translated title of the contribution: Genetic tests in colon cancer

Giuseppe Biscaglia, Francesco Perri, Ada Piepoli, Angelo Andriulli, Vito Annese

Research output: Contribution to journalArticle

Abstract

About 30% of colorectal cancers (CRCs) present a familial aggregation and 5% are hereditary forms. Main syndromes are: HNPCC or Lynch's syndrome, familial autosomal polyposis (FAP), polyposis associated to MUTYH (MAP). Diagnosis includes the identification of a germline mutation. HNPCC is caused by mutation of mismatch repair genes. The molecular evaluation starts with analysis of microsatellite instability (MSI), peculiar of HNPCC CRCs. If positive, the main genes (MSH2 and MLH1) should be tested. APC gene is defective in FAP; the screening test is the protein truncation test (PTT). MAP is due to point mutation of MUTYH gene. A genetic diagnosis aloows a maximized surveillance in these patients.

Original languageItalian
Pages (from-to)8-12
Number of pages5
JournalArgomenti di Gastroenterologia Clinica
Volume21
Issue number4
Publication statusPublished - Dec 2008

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Colonic Neoplasms
Colorectal Neoplasms
APC Genes
Genes
Hereditary Nonpolyposis Colorectal Neoplasms
Microsatellite Instability
DNA Mismatch Repair
Germ-Line Mutation
Point Mutation
Mutation
Proteins

ASJC Scopus subject areas

  • Gastroenterology

Cite this

I test genetici nel cancro del colon. / Biscaglia, Giuseppe; Perri, Francesco; Piepoli, Ada; Andriulli, Angelo; Annese, Vito.

In: Argomenti di Gastroenterologia Clinica, Vol. 21, No. 4, 12.2008, p. 8-12.

Research output: Contribution to journalArticle

Biscaglia, G, Perri, F, Piepoli, A, Andriulli, A & Annese, V 2008, 'I test genetici nel cancro del colon', Argomenti di Gastroenterologia Clinica, vol. 21, no. 4, pp. 8-12.
Biscaglia, Giuseppe ; Perri, Francesco ; Piepoli, Ada ; Andriulli, Angelo ; Annese, Vito. / I test genetici nel cancro del colon. In: Argomenti di Gastroenterologia Clinica. 2008 ; Vol. 21, No. 4. pp. 8-12.
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