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Scientists hunt for new cancer genes in families with unusual cancer patterns

NCT ID NCT04860453

Knowledge-focused Sponsor: Case Comprehensive Cancer Center Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 26, 2026 · Last updated Jun 26, 2026

Summary

This study is collecting DNA and medical history from 150 people in families where multiple members have had different types of cancer. Researchers will analyze the participants' exomes (the protein-coding parts of their DNA) to find new gene mutations that might explain why these families have so many cancers. The goal is to discover inherited genetic changes that current tests might miss, which could improve genetic counseling and screening for at-risk families.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could identify new inherited gene mutations that increase cancer risk, potentially leading to better genetic testing and screening for families.
What could go wrong
This is an observational study, not a treatment trial. It may not find new mutations, and any discoveries would need years of further research before they help patients.

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 150 people

The number the study aims to enrol. It can still change while the study runs.

Started

Nov 2020

Expected to finish

Jul 2028

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

1. Family history suggestive of a known hereditary cancer syndrome 2. 5 or more relatives with discordant cancer diagnoses

Ages

18 to 100 years

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

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Affected patient with a family history suggestive of a known hereditary syndrome or meeting NCCN criteria for germline testing and consent to a multicancer panel --This cohort is meant as a real world control group receiving routine standard of care and is not eligible for WES. * Affected patient with a family history of 5 or more discordant cancers in unilateral descent within a 3-generation pedigree. * Unaffected family members within such kindreds will be eligible for WES as long as a minimum of 2 affected and 1 unaffected family members consent to WES as trial participants. Exclusion Criteria: * Unable to safely provide a blood sample for genetic testing * Unable to receive or decline to receive genetic counselling through the telephone, video conference, or in person * Families known to segregate a previously identified high penetrance cancer susceptibility gene identified through routine medical genetics evaluation are not eligible WES * Family is not amenable to routine medical genetics SOC genetics evaluation.

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Conditions

The condition(s) this trial relates to.

cancer

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Discordant cancers

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    1 site. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. 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

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • University Hospitals Cleveland Medical Center, Case Comprehensive Cancer Center

    RECRUITING

    Cleveland, Ohio, 44106, United States

    Contact Email: •••••@•••••

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