The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience

Genetic Testing and Molecular Biomarkers
F CensiD Taruscio

Abstract

Familial adenomatous polyposis is a rare autosomal dominant inherited disease (incidence, 1/8000). More than 90% of families affected by familial adenomatous polyposis have a mutation in the tumor suppressor gene adenomatous polyposis coli (APC). Mutations in this gene are characterized by 100% penetrance, although there is a variation in phenotypic expression of the disease. According to a 2004 survey of the Italian Human Genetic Society, about 264 APC gene molecular genetic tests were performed by Italian laboratories per year. The Italian External Quality Assessment (IEQA), financially supported by the Ministry of Health and coordinated by the Istituto Superiore di Sanità, was started in 2000 to improve the quality of molecular genetic tests in Italy. In the frame of the IEQA, about 50% of public laboratories performing APC gene tests have been monitored. The number of responding public laboratories during the 5 years was 6, 7, 7, 7, and 5 from 2001 to 2006, respectively; on average, 96.3% of samples completely analyzed were correctly genotyped. Methods used by laboratories to detect mutation were direct sequencing, single-strand conformation polymorphism, protein truncation test, and denaturing high-performance liquid chrom...Continue Reading

References

May 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·Y MiyoshiG Petersen
Nov 1, 1986·American Journal of Medical Genetics·L HerreraA A Sandberg
Jan 1, 1996·Nucleic Acids Research·C Béroud, T Soussi
Oct 18, 1996·Cell·K W Kinzler, B Vogelstein
Sep 1, 1997·Nature Genetics·S J LakenB Vogelstein
Jun 19, 1998·American Journal of Human Genetics·C SoraviaB Bapat
Mar 10, 2001·Experimental Cell Research·J H van EsH C Clevers
Mar 21, 2001·Human Molecular Genetics·N S FearnheadW F Bodmer
Apr 24, 2001·Human Mutation·N RestaG Guanti
Jul 5, 2001·Clinica Chimica Acta; International Journal of Clinical Chemistry·J C Libeer
Sep 5, 2001·Nature Reviews. Genetics·E DequekerD E Barton
May 23, 2003·Gastroenterology·William M Grady
Jul 29, 2004·Annals of Oncology : Official Journal of the European Society for Medical Oncology·C R MuellerD Stoppa-Lyonnet
Sep 25, 2004·Clinical Chemistry and Laboratory Medicine : CCLM·Domenica TaruscioOrsetta Zuffardi
Oct 8, 2004·Nature Biotechnology·Dolores IbarretaElisabeth Dequeker
Oct 7, 2005·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Brett W DoxeyRandall W Burt
Feb 4, 2006·The American Journal of Gastroenterology·Polymnia Galiatsatos, William D Foulkes
May 9, 2006·Journal of Clinical Pathology·M HertzbergD McDonald
May 30, 2006·Clinical Chemistry and Laboratory Medicine : CCLM·Laura SciacovelliMario Plebani
Feb 22, 2007·Clinical Chemistry and Laboratory Medicine : CCLM·Marco SalvatoreDomenica Taruscio
Mar 30, 2007·The Keio Journal of Medicine·Nicholas O Davidson
Apr 17, 2007·Seminars in Hematology·Ian MackieSteve Kitchen
Nov 1, 1947·American Journal of Clinical Pathology·W P BELK, F W SUNDERMAN

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Methods Mentioned

BETA
ISS
genotyping
electrophoresis

Related Concepts

Related Feeds

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.