Journal article
Germline TP53 mutations in patients with early-onset colorectal cancer in the Colon Cancer Family Registry
MB Yurgelun, S Masciari, VA Joshi, RC Mercado, NM Lindor, S Gallinger, JL Hopper, MA Jenkins, DD Buchanan, PA Newcomb, JD Potter, RW Haile, R Kucherlapati, S Syngal
JAMA Oncology | AMER MEDICAL ASSOC | Published : 2015
Abstract
IMPORTANCE: Li-Fraumeni syndrome, usually characterized by germline TP53 mutations, is associated with markedly elevated lifetime risks of multiple cancers, and has been linked to an increased risk of early-onset colorectal cancer. OBJECTIVE: To examine the frequency of germline TP53 alterations in patients with early-onset colorectal cancer. DESIGN, SETTING, AND PARTICIPANTS: This was a multicenter cross-sectional cohort study of individuals recruited to the Colon Cancer Family Registry (CCFR) from 1998 through 2007 (genetic testing data updated as of January 2015). Both population-based and clinic-based patients in the United States, Canada, Australia, and New Zealand were recruited to the..
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Grants
Awarded by University of South Carolina
Funding Acknowledgements
This study was funded by the National Institutes of Health (NIH) (National Cancer Institute [NCI]) K24CA113433 (Dr Syngal) and UM1CA167551 (Dr Haile), as well as an American Gastroenterological Association (AGA) Translational Research Award (Drs Syngal and Kucherlapati). The Colon Cancer Family Registry (CCFR) was supported by the NCI, NIH, of Health under RFA No. CA-95-011 and through cooperative agreements with members of the CCFR and Principal Investigators. Collaborating centers include the Australasian Colorectal Cancer Family Registry, Colon Cancer Family Registry: USC Consortium, Mayo Clinic Cooperative Family Registry for Colon Cancer Studies, Ontario Registry for Studies of Familial Colorectal Cancer, and Seattle Colorectal Cancer Family Registry.