Article
Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 Jul 2013
DeRycke Melissa S, Gunawardena Shanaka R, Middha Sumit, Asmann Yan W, Schaid Daniel J, McDonnell Shannon K, Riska Shaun M, Eckloff Bruce W, Cunningham Julie M, Fridley Brooke L, Serie Daniel J, Bamlet William R, Cicek Mine S, Jenkins Mark A, Duggan David J, Buchanan Daniel, Clendenning Mark, Haile Robert W, Woods Michael O, Gallinger Steven N, Casey Graham, Potter John D, Newcomb Polly A, Le Marchand Loïc, Lindor Noralane M, Thibodeau Stephen N, Goode Ellen L
Abstract excerpt
BACKGROUND: Colorectal cancer (CRC) in densely affected families without Lynch Syndrome may be due to mutations in undiscovered genetic loci. Familial linkage analyses have yielded disparate results; the use of exome sequencing in coding regions may identify novel segregating variants. METHODS: We completed exome sequencing on 40 affected cases from 16 multicase pedigrees to identify novel loci. Variants shared...
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