The educational role of external quality assessment in genetic testing: A 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome

Human Mutation

Volumn 32, Issue 6, 2011, Pages 696-697

  Qiu, Jinghua ^a,b   Hutter, Pierre ^c   Rahner, Nils ^d   Patton, Simon ^e   Olschwang, Sylviane ^a,f  

^a INSTITUT PAOLI CALMETTES   (France)

^b Hôpital Sino Français de Suzhou   (China)

^c UNIVERSITY OF GENEVA   (Switzerland)

^d UNIVERSITY OF BONN   (Germany)

^e European Molecular Genetics Quality Network   (United Kingdom)

^f AIX MARSEILLE UNIVERSITY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN;

GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; LETTER; MISSENSE MUTATION; PRIORITY JOURNAL; QUALITY CONTROL;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EUROPE; GENETIC TESTING; HUMANS; QUALITY ASSURANCE, HEALTH CARE;

EID: 79957593865     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21493     Document Type: Letter

References (4)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
2. Grover S, Syngal S. 2010. Risk assessment, genetic testing, and management of Lynch syndrome. J Natl Compr Cancer Netw 8:98-105.
3. Needham CJ, Bradford JR, Bulpitt AJ, Care MA, Westhead DR. 2006. Predicting the effect of missense mutations on protein function: analysis with Bayesian networks. BMC Bioinformatics 7:405.
4. Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. 2008. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat 29:1342-1354.