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Whole-Exome Sequencing (WES) of Cancer Patients

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02127359
Recruitment Status : Active, not recruiting
First Posted : April 30, 2014
Last Update Posted : September 6, 2018
Information provided by (Responsible Party):
Nikhil Wagle, Dana-Farber Cancer Institute

Brief Summary:

Cancers occur when the molecules that control normal cell growth (genes and proteins) are altered. Changes in the tumor genes and in the genes of normal cells are called "alterations." Many of these alterations can be detected by directly examining cancer cells in a tumor or circulating in blood. Several alterations that occur repeatedly in certain types of cancers have already been identified. These discoveries ahve led to the development of new drugs that "target" those alterations. More remain to be discovered.

Some of the alterations are found in genes. Genes are composed of DNA "letters," which contain the instructions that tell the cells in our bodies how to grow and work. Genes make proteins which actually carry out the instructions in our cells.

We would like to use your DNA to look for alterations in the genes in cancer cells and blood cells using a technology called "sequencing." Gene sequencing is a way of reading the DNA to identify errors in genes that may contribute to the behavior of cells. Some changes in genes occur only in cancer cells. Others occur in normal cels as well, in the genes that may have been passed from parent to child. This research study will examine both kinds of genes.

The purpose of this research study is to perform gene sequencing (gene tests) on your cancer cells (obtained from biopsies or surgery) and normal tissues (usually blood). The results of the gene tests will be used to try to develop better ways to treat and prevent cancers. We will also study better ways to communicate the results of these complex gene tests to you and your doctors, and to help you and your doctors use this information to choose the best paths for treatment. As part of this work, we may also learn things about the genes in your normal cells; some of that information will also be shared wtih you and your doctors if you so choose.

Importantly, this study will use tissue specimens that have already been collected and stored in the pathology department as part of your clinical care or as part of other research studies you may be participating in. In this study, gene tests will be performed on material only after the necessary clinical tests have been performed. In general, no additional invasive procedures will be required.

Condition or disease
Lung Adenocarcinoma Colon Adenocarcinoma

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Study Type : Observational [Patient Registry]
Actual Enrollment : 244 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 99 Years
Official Title: CanSeq: Whole-Exome Sequencing (WES) of Cancer Patients
Study Start Date : September 2012
Actual Primary Completion Date : April 2017
Estimated Study Completion Date : December 2019

Resource links provided by the National Library of Medicine

Lung/Colon Adenocarcinomas
Metastatic lung and colon adenocarcinomas

Primary Outcome Measures :
  1. Feasibility of WES in Cancer patients [ Time Frame: 2 years ]
    To implement a production-scale platform for whole exome sequencing from archival (FFPE) material. To obtain tumor and germline specimens from patients with metastatic cancer who are receiving treatment at Dana-Farber Cancer Institute, beginning with metastatic lung and colon adenocarcinomas. To perform whole exome sequencing on these specimens in order to determine somatic and germline genomic alterations that may be relevant to the development or treatment of cancer. To develop and implement an analytical and interpretive framework to prioritize clinically important genomic alterations.

  2. Clinical Impact of Whole Exome Sequencing in Cancer Patients [ Time Frame: 2 years ]
    To determine the clinical impact of somatic and germline whole exome sequencing in cancer patients. To determine the feasibility of whole exome sequencing of clinical cancer patients with advanced solid tumors, beginning with lung and colon adenocarcinomas. To establish a system of review and disclosure of results, including selected incidental results unrelated to the patients' cancer diagnoses, to physicians, patients and their families. To describe the impact of whole exome sequencing data on the medical management of patients with advanced solid tumors.

  3. Describe Impact of Information Derived from Exome Sequencing [ Time Frame: 2 years ]
    To describe the impact of information derived from somatic and germline whole-exome sequencing (WES) on cancer patients.

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Dana-Farber Cancer Institute patients who are identified as oncology patients or patients suspected to have an eligible cancer diagnosis as defined by their providers.

Inclusion Criteria:

  • Have previously consented to DF/HCC Protocol 11-104, 02-180 and/or are currently receiving clinical testing for KRAS mutations at BWH
  • Have a diagnosis of advanced lung or colorectal adenocarcinoma
  • Life expectancy of at least 6 months
  • Sufficient genomic DNA available for whole exome sequencing and CLIA validation
  • Have a treating oncologist who is participating in the physician study
  • Speak English or Spanish

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02127359

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United States, Massachusetts
Brigham and Women's Hospital
Boston, Massachusetts, United States, 02215
Dana-Farber Cancer Insitute
Boston, Massachusetts, United States, 02215
Sponsors and Collaborators
Dana-Farber Cancer Institute
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Principal Investigator: Nikhil Wagle, MD Dana-Farber Cancer Insitute
Additional Information:

Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Nikhil Wagle, Principal Investigator, Dana-Farber Cancer Institute Identifier: NCT02127359    
Other Study ID Numbers: 12-078
First Posted: April 30, 2014    Key Record Dates
Last Update Posted: September 6, 2018
Last Verified: September 2018
Keywords provided by Nikhil Wagle, Dana-Farber Cancer Institute:
Additional relevant MeSH terms:
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Adenocarcinoma of Lung
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Lung Neoplasms
Respiratory Tract Neoplasms
Thoracic Neoplasms
Neoplasms by Site