Journal article
Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing
PJ Whiley, M De La Hoya, M Thomassen, A Becker, R Brandão, IS Pedersen, M Montagna, M Menéndez, F Quiles, S Gutiérrez-Enríquez, KD Leeneer, A Tenés, G Montalban, D Tserpelis, T Yoshimatsu, C Tirapo, M Raponi, T Caldes, A Blanco, M Santamariña Show all
Clinical Chemistry | Published : 2014
Abstract
BACKGROUND: Accurate evaluation of unclassified sequence variants incancer predisposition genesis essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of assay data in turn relies on appropriate assay design, interpretation, and reporting. METHODS: We conducted a multicenter investigation to compare mRNA splicingassay protocols usedbymembers of the ENIGMA (Evidence-Based Network for the Interpretation of Germline Mutant Alleles) consortium. We compared similarities and differences in results derived from analysis of a panel of breast cancer 1, early..
View full abstractRelated Projects (1)
Grants
Awarded by National Cancer Institute
Funding Acknowledgements
The Clinical Follow Up Study was funded 20012009 by NHMRCand currently by the National Breast Cancer Foundation and Cancer Australia #628333. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. The Beckman Research Institute of City of Hope (BRICOH) study was supported by Grant Number P30 CA033572 from the National Cancer Institute. R. Brandao, Fundac, a opara a Ciencia e Tecnologia; A. B. Spurdle, Australian NHMRC Project grant ID #1010719, The University of Queensland, NHMRC Senior Research Fellowship; M. A. Brown, Australian NHMRC Project grant ID #1010719, The University of Queensland; C. Lazaro, the Spanish Health Research Fund, Carlos III Health Institute, Catalan Health Institute, Government of Catalonia and the Spanish Association Against Cancer (Contract grant numbers: ISCIIIRETIC: RD06/0020/1051, 2009SGR290, PI10/01422); C. Houdayer, INCA DHOS 2010 Recherche Translationnelle sur le Cancer, FASDEC grant; L. C. Walker, Health Research Council NZ Sir Charles Hercus Health Research Fellowship; D. Baralle, CRUK Project grant; M. Colombo, the Italian Association for Cancer Research (AIRC; grant number 11897); G. De Vecchi, the Italian Association for Cancer Research (AIRC; grant number 11897); P. Radice, the Italian Association for Cancer Research (AIRC; grant number 11897); M. de la Hoya, the NEYE Foundation, the Xunta de Galicia (10PXIB 9101297PR) and FMM Foundation and a Fondo de Investigacion Sanitaria (FIS) research grant PI 12/00539, an initiative of the Insituto de Salud Carlos III (Spain), partially supported by European Regional; S. Gutierrez-Enriquez, Miguel Servet contract from the Spanish Carlos III Health Institute - Miguel Servet Project grant CP10/00617; A. Tenes, Miguel Servet contract from the Spanish Carlos III Health Institute; A. Vega, Xunta de Galicia, FMM Foundation; O. Diez, Fondo de Investigacion Sanitaria (FIS) research grant PI 12/02585 from the Spanish Carlos III Health Institute.