Inherited genes may hold key to lung cancer risk
NCT ID NCT05587439
First seen Aug 26, 2026 · Last updated Aug 27, 2026 · Updated 1 time
Summary
This study investigates whether certain inherited genetic mutations increase the risk of developing lung cancer. Researchers will collect blood or saliva samples and questionnaire data from 500 participants, including lung cancer patients and their family members. The goal is to identify rare genetic variants that may be passed down through families, which could help improve screening and prevention for those at higher risk.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Genetic testing (blood or saliva sample) and questionnaires
- What this could lead to
- If successful, this could identify genetic markers that predict higher lung cancer risk, potentially leading to earlier screening and prevention strategies for at-risk families.
- What could go wrong
- This is an observational study, so it won't directly test a treatment. The findings may not apply to all lung cancer cases, and the genetic variants studied are rare.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
-
About 500 people
The number the study aims to enrol. It can still change while the study runs.
- Started
-
Jan 2023
- Expected to finish
-
Nov 2027
An estimate. End dates often move.
- Lead sponsor
-
Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Dana-Farber Cancer Institute (DFCI), DFCI affiliates, satellites, or other sites clinics
- Ages
-
18 years and older
- Sex
-
Anyone
- Healthy volunteers
-
Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Cohort 1: individuals with or with high risk of carrying an EGFR T790M or other EGFR germline variant identified in blood or saliva, including via somatic single or multi-gene panel testing (MGPT). This includes both probands and family members. * Participants with variants of uncertain significance may be eligible at the PI's discretion * Cohort 2: individuals with or with high risk of carrying non-EGFR germline variants suggestive of a potential inherited lung cancer risk, identified in blood or saliva, including via somatic single or multi-gene panel testing (MGPT). This includes both probands and family members. * Participants with variants of uncertain significance may be eligible at the PI's discretion * Cohort 3: individuals with lung cancer who are not known to carry a pathogenic or likely pathogenic variant, and with one of the following: * first-degree relative with lung cancer * multi-generational family history of lung cancer * personal history of multiple primary lung cancers or other neoplasms * multifocal lung cancer This includes both probands and their families. * For each cohort, the following applies: * May include blood relatives of individuals with the aforementioned variants or family history, who may be presumed obligate carriers or healthy controls * Deceased patients may be included in the study. Pathology specimens and public records, such as death certificates, may be used to confirm information. If medical records and/or pathology specimens are needed, consent will be obtained from the descendant's next-of-kin. Next-of-kin refers to the following hierarchy of relatives: spouse, offspring, parents, and siblings. (Any further use of "next-of-kin" in this protocol refers to this hierarchy). * Data and specimens from previously consented eligible individuals (under Dana-Farber IRB protocol #12-360) will also be deposited into the study database and specimen banks from other investigators as long as their consents permit sharing of specimens and data. It is estimated that approximately 150 individuals may qualify under these criteria. * Some of the variants identified initially through germline testing may ultimately be shown to not be germline but rather somatic mosaic (ACE or CHIP). These individuals will remain in the study cohort but will not be asked for ongoing questionnaire or repeat specimen donation Exclusion Criteria: * Individuals who decline to consent * Individuals who are unable to give consent or assent and are without a designated healthcare proxy
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Genetic disease are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
-
The places running it
2 sites. The list below names each one and where it is.
-
The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
-
A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
-
Brigham and Women's Hospital
NOT_YET_RECRUITINGBoston, Massachusetts, 02115, United States
-
Dana-Farber Cancer Institute
RECRUITINGBoston, Massachusetts, 02115, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- A spoonful of olive oil before lung surgery: a new shield against a rare complication?
- Mobile lung cancer clinics aim to close rural screening gap
- Can protein patterns in stored tumors point to new treatment targets?
- Lung surgery without a breathing tube: a gentler path to recovery?
- A single blood draw to detect five cancers before symptoms appear?
- A breath sniff could one day screen for lung cancer and more