Journal article
Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene
AK Win, JC Reece, DD Buchanan, M Clendenning, JP Young, SP Cleary, H Kim, M Cotterchio, JG Dowty, RJ MacInnis, KM Tucker, IM Winship, FA Macrae, T Burnett, L Le Marchand, G Casey, RW Haile, PA Newcomb, SN Thibodeau, NM Lindor Show all
Familial Cancer | SPRINGER | Published : 2015
Abstract
The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing moves from testing one gene at a time, to gene panel and whole exome next generation sequencing approaches, understandin g the risk associated with co-existence of germline mutations in these genes will be important for clinical interpretation and management. From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alo..
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Grants
Awarded by National Institutes of Health
Funding Acknowledgements
This work was supported by Grant UM1 CA167551 from the National Cancer Institute, National Institutes of Health (NIH) and through cooperative agreements with members of the Colon Cancer Family Registry (CFR) and Principal Investigators. Collaborating centers include Australasian Colorectal Cancer Family Registry (U01/U24 CA097735), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01/U24 CA074800), Ontario Familial Colorectal Cancer Registry (U01/U24 CA074783), Seattle Colorectal Cancer Family Registry (U01/U24 CA074794), Stanford Consortium Colorectal Cancer Family Registry (U01/U24 CA074799), and University of Hawaii Colorectal Cancer Family Registry (U01/U24 CA074806). A.K.W. is an Australian National Health and Medical Research Council (NHMRC) Early Career Fellow. M.A.J. is an NHMRC Senior Research Fellow. J.L.H. is a NHMRC Senior Principal Research Fellow. D.D.B. is a University of Melbourne Research at Melbourne Accelerator Program (R@MAP) Senior Research Fellow.