SNPMiner Trials by Shray Alag

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Report for Mutation R776H

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 INHERIT EGFR - INvestigating HEreditary RIsk From T790M: A Multi-Centered Study to Identify and Characterize Individuals Carrying Germline EGFR Mutations

Lung cancer is a common malignancy that is associated with cigarette smoking but can also affect individuals who never smoked. It is not well understood whether there are hereditary risk factors that influence the risk of lung cancer. It has been recently found that a small number of families have an inherited (passed from parent to child) change in one of their genes that may contribute to an increased tendency to develop lung cancers, even in never smokers. In some lung cancer patients this gene, called "EGFR", contains a DNA change known as an "inherited EGFR mutation". Early data indicate that these inherited EGFR mutations may be associated with an increased risk of lung cancer. So far, only a small number of families have been found to carry inherited EGFR mutations. For this reason the risk of lung cancer associated with inherited EGFR mutations is not well understood. Understanding the risk may help investigators find ways of detecting lung cancer sooner or reducing the risk of developing lung cancer. It was recently discovered that lung cancer patients who are found to carry one rare EGFR mutation in their cancer cells, called "T790M", have an increased risk of carrying an inherited EGFR mutation in their normal cells as well. This represents a new strategy for finding individuals and families carrying inherited EGFR mutations. This research study is designed to find cancer patients whose tumors have this EGFR mutation, T790M, to find out if they also have an inherited EGFR mutation. Subjects will not have to undergo a biopsy to participate in this research study. Investigators will collect a saliva specimen from patients with a T790M in their cancer to find out if they also have an inherited EGFR mutation. Study participants found or known to carry an inherited EGFR mutation will have the option of offering their close relative the opportunity to also participate in this study. Close relatives can consider testing to see if they also carry the inherited mutation in their normal cells. Once investigators have identified individuals and relatives that carry inherited EGFR mutations in their genes, investigators will then try to understand the risk of lung cancer and other cancers. Individuals with inherited EGFR mutations will also have the opportunity to participate in future studies related to cancer and other diseases. This study is being funded in part by the Conquer Cancer Foundation of ASCO and the Bonnie J. Addario Lung Cancer Foundation.

NCT01754025 Lung Cancer

To study individuals and families with rare germline mutations, such as EGFR V843I and EGFR R776H. --- V843I --- --- R776H ---

Primary Outcomes

Description: To determine the prevalence of germline EGFR mutations in lung cancer patients with EGFR T790M mutations in their tumor and in relatives of carriers of germline EGFR mutations

Measure: Prevalence of EGFR mutations

Time: 2 years

Secondary Outcomes

Description: To make a preliminary assessment of the natural history of lung cancers occurring in patients with germline EGFR mutations

Measure: Preliminary Assessment of History of Lung Cancers

Time: 2 years

Description: To generate an initial estimate of the prevalence of CT-detected lung nodules in individuals with germline EGFR mutations

Measure: Estimate of Prevalence of Lung Nodules

Time: 2 years

Description: To study EGFR expression in skin biopsies from patients on study

Measure: Study EGFR Expression in Skin Biopsies

Time: 2 years

Description: To explore the relationship between high allelic fraction T790M on plasma genotyping and presence of an underlying germline EGFR T790M mutation

Measure: Explore Relationship Between High Allelic Fraction T790M in plasma genotyping and germline mutations

Time: 2 years

Description: To study individuals and families with rare germline mutations, such as EGFR V843I and EGFR R776H

Measure: Examine Lung Cancer Risk Associated with Other Germline Mutations

Time: 2 years

HPO Nodes