NCT01754025Active, not recruiting
INHERIT EGFR - Studying Germline EGFR Mutations
INHERIT EGFR - INvestigating HEreditary RIsk From T790M: A Multi-Centered Study to Identify and Characterize Individuals Carrying Germline EGFR Mutations
Source: ClinicalTrials.gov · Last updated 19 Oct 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Active, not recruiting
- Study type
- Observational
- Enrollment
- 121 (actual)
- First submitted
- 17 Dec 2012
- Start date
- 28 Dec 2012
- Primary completion date
- 7 Nov 2018
- Lead sponsor
- Dana-Farber Cancer Institute
- Diseases
- Lung cancer
- NCT number
- NCT01754025
What you commit to
- Study type: Observational
- Participants enrolled: 121
- From 28 Dec 2012 to the primary completion date, 7 Nov 2018
- 2 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Lab values
- Subjects with lung cancer and an acquired T790M mutation first detected after exposure to an EGFR tyrosine kinase inhibitor such as erlotinib or gefitinib
Age
- Subjects under the age of 18
Other
- Subjects who are too ill to complete the study questionnaire or provide the necessary specimen for testing
- Subjects who are unable to give informed consent
- Subjects who are unable to speak or read English or Brazilian Portuguese
Who the study is looking for
- To participate in this study a subject must meet the eligibility of one of the following cohorts:
- Cohort 1 - Cancer patients with T790M in their tumor must both:
- Have a diagnosis of cancer of any type (lung cancer or other)
- Have an EGFR mutation identified. Either EGFR T790M identified on tumor genotyping of their cancer OR on quantitative plasma genotyping with evidence of high level (\>40% allelic fraction) EGFR T790M OR
- Another EGFR mutation previously reported as germline detected on tumor genotyping of their cancer
- Cohort 2 - Relatives of carriers of germline EGFR mutations are eligible as follows:
- First-degree or second-degree relatives of an individual known to carry a germline EGFR mutation (either T790M or other novel germline EGFR mutation)
- Third-degree relatives of an individual known to carry a germline EGFR mutation (either T790M or other novel germline EGFR mutation) if the relative has a personal history of lung cancer or another malignancy
- Cohort 3 - Individuals already known to carry a germline EGFR mutation must:
- Have a known germline EGFR mutation (either T790M or other novel germline EGFR mutation)
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
Sites (2)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Dana-Farber Cancer Institute Coordinator of this site? Confirm its status | Boston | United States | Unknown status |
| Vanderbilt-Ingram Cancer Center Coordinator of this site? Confirm its status | Nashville | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.