Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes
- DeRycke, MS
- Gunawardena, S
- Balcom, JR
- Pickart, AM
- Waltman, LA
- French, AJ
- McDonnell, S
- Riska, SM
- Fogarty, ZC
- Larson, MC
- Middha, S
- Eckloff, BW
- Asmann, YW
- Ferber, MJ
- Haile, RW
- Gallinger, S
- Clendenning, M
- Rosty, C
- Win, AK
- Buchanan, DD
- Hopper, JL
- Newcomb, PA
- Le Marchand, L
- Goode, EL
- Lindor, NM
- Thibodeau, SN
DOIAbstract
BACKGROUND: Mutations in several genes predispose to colorectal cancer. Genetic testing for hereditary colorectal cancer syndromes was previously limited to single gene tests; thus, only a very limited number of genes were tested, and rarely those infrequently mutated in colorectal cancer. Next-generation sequencing technologies have made it possible to sequencing panels of genes known and suspected to influence colorectal cancer susceptibility. METHODS: Targeted sequencing of 36 known or putative CRC susceptibility genes was conducted for 1231 CRC cases from five subsets: (1) Familial Colorectal Cancer Type X (n = 153); (2) CRC unselected by tumor immunohistochemical or microsatellite stability testing (n = 548); (3) young onset (age <50 y...
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