Journal article
Identification of Lynch syndrome among patients with colorectal cancer
L Moreira, F Balaguer, N Lindor, A De La Chapelle, H Hampel, LA Aaltonen, JL Hopper, L Le Marchand, S Gallinger, PA Newcomb, R Haile, SN Thibodeau, S Gunawardena, MA Jenkins, DD Buchanan, JD Potter, JA Baron, DJ Ahnen, V Moreno, M Andreu Show all
JAMA | AMER MEDICAL ASSOC | Published : 2012
Abstract
Context: Lynch syndrome is the most common form of hereditary colorectal cancer (CRC) and is caused by germline mutations in DNA mismatch repair (MMR) genes. Identification of gene carriers currently relies on germline analysis in patientswith MMR-deficient tumors, but criteria to select individuals in whom tumor MMR testing should be performed are unclear. Objective: To establish a highly sensitive and efficient strategy for the identification of MMR gene mutation carriers among CRC probands. Design, Setting, and Patients: Pooled-data analysis of 4 large cohorts of newly diagnosed CRC probands recruited between 1994 and 2010 (n=10 206) from the Colon Cancer Family Registry, the EPICOLON pro..
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Grants
Awarded by National Cancer Institute
Funding Acknowledgements
This work was supported by grants from the Ministerio de Economia y Competividad (SAF2010-19273), Agencia de Gestio d'Ajuts Universitaris i de Recerca (2009 SGR 849), Asociacion Espanola contra el Cancer (Fundacion Cientifica and Junta de Barcelona), Hospital Clinic of Barcelona (Josep Font grant), and Instituto de Salud Carlos III (PI10/00384). CIBEREHD and CIBERESP are funded by the Instituto de Salud Carlos III. The research at the Ohio State University Comprehensive Cancer Center was supported by National Cancer Institute grants CA67941 and CA16058. The research at the University of Pennsylvania was supported by the National Institutes of Health under 5R01DK056645, the National Colon Cancer Research Alliance, and the Hansen Foundation. This work was also supported by the National Cancer Institute, by the National Institutes of Health under RFA CA-95-011, and through cooperative agreements with members of the Colon Cancer Family Registry and Principal Investigators. Collaborating centers include Australasian Colorectal Cancer Family Registry (U01 CA097735), Familial Colorectal Neoplasia Collaborative Group (U01 CA074799) (University of Southern California), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01 CA074800), Ontario Registry for Studies of Familial Colorectal Cancer (U01 CA074783), Seattle Colorectal Cancer Family Registry (U01 CA074794), and University of Hawaii Colorectal Cancer Family Registry (U01 CA074806). The work was carried out in part at the Esther Koplowitz Center, Barcelona.