Journal article
Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort
L Raskin, Y Guo, L Du, M Clendenning, C Rosty, NM Lindor, SB Gruber, DD Buchanan
Oncotarget | IMPACT JOURNALS LLC | Published : 2017
Abstract
The underlying genetic cause of colorectal cancer (CRC) can be identified for 5-10% of all cases, while at least 20% of CRC cases are thought to be due to inherited genetic factors. Screening for highly penetrant mutations in genes associated with Mendelian cancer syndromes using next-generation sequencing (NGS) can be prohibitively expensive for studies requiring large samples sizes. The aim of the study was to identify rare single nucleotide variants and small indels in 40 established or candidate CRC susceptibility genes in 1,046 familial CRC cases (including both MSS and MSI-H tumor subtypes) and 1,006 unrelated controls from the Colon Cancer Family Registry Cohort using a robust and cos..
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Awarded by National Cancer Institute
Funding Acknowledgements
This work was supported by the NIH NCI Pathway to Independence Award K99/R00CA158141. This work was also supported in part by grant UM1 CA167551 from the National Cancer Institute and through cooperative agreements with the following Colon CFR centers: Australasian Colorectal Cancer Family Registry (U01 CA074778 and 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), University of Hawaii Colorectal Cancer Family Registry (U01/U24 CA074806), USC Consortium Colorectal Cancer Family Registry U01/U24 CA074799), with additional support through grant R01 CA104132 (to L LeMarchand). Additional support was provided from the Surveillance, Epidemiology and End Results (SEER) Program of the National Cancer Institute to Fred Hutchinson Cancer Research Center (Control Nos. N01-CN-67009 and N01-PC-35142, and Contract No. HHSN2612013000121), the Hawai'i Department of Health (Control Nos. N01-PC-67001 and N01-PC-35137, and Contract No. HHSN26120100037C, and the California Department of Public Health (contracts HHSN261201000140C awarded to the Cancer Prevention Institute of California and HHSN261201000035C awarded to the University of Southern California.