Whole Exome Sequencing for Colorectal Cancer

This project was designed to use next generation sequencing technology to screen the protein coding regions of the genome for low frequency variants in a panel of high-risk colorectal adenocarcinoma cases. Blood and cell-line DNA for colorectal cancer patients and a subset of quality control samples that had existing whole exome sequence data were analyzed using Illumina HiSeq sequencers. Samples from this project were from participants in the Women's Health Initiative (WHI) and the Diet, Activity, and Lifestyle Study (DALS).]]>
DALS and WHI have study-specific inclusion and exclusion criteria, which can be found in the selected publications. The composition of this study includes un-related Caucasian participants with colorectal adenocarcinoma and a subset of controls. Cases were selected based on having one or more first-degree relatives with colorectal cancer and/or early onset of colorectal cancer (age at diagnosis <55 years). Cases with the following diagnoses related to the colon or rectum were excluded: any in situ adenocarcinoma or carcinoma, (large cell) neuroendocrine carcinoma, squamous cell carcinoma, carcinoid tumor, Goblet cell carcinoid, and any type of lymphoma, including non-Hodgkin, Mantle cell, large B-cell, or follicular lymphoma.]]>
The Diet, Activity, and Lifestyle Study (DALS) is a case-control study that recruited participants diagnosed with first-primary colon cancer between October 1991 and September 1994. The majority of cases were interviewed within four months of diagnosis and verified through state-wide tumor registries. The study continues to conduct analyses, with a particular focus on tumor characteristics, and the environmental and genetic risk factors for colon cancer. The Women's Health Initiative (WHI) recruited participants for a randomized Clinical Trial (CT) between September 1993 and October 1998 and an Observational Study (OS) between September 1993 and December 1998. OS participants were followed for 8 to 12 years, during which annual self-administered questionnaires or clinic follow-up visits were completed. The WHI CT closed between October 2004 and March 2005, at which point participants were given the opportunity to enroll in the WHI Extension Study, which has ongoing annual follow-up.]]>