Clinical trial · Observational
Genomic Analysis of Families With a History of Discordant Cancers
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The purpose of this study is to identify novel gene mutations which have contributed to significant personal and family history of cancer. Adults with and without cancer will be accrued to the study. Participants qualify to take part in this research study because someone in their family has been diagnosed with or because they themselves have a cancer diagnosis. Participants' DNA and other clinical information will be obtained from a blood sample in order to study the genetic basis of cancer and related complications. All portions in the DNA that code for proteins (i.e., the exome) will be studied. Participant DNA sample and information about family structure and family medical history and ethnic origin may also be collected to better understand this information. Clinical information will be stored and biological samples, including DNA, will be kept for up to three (3) years after collection for future. Ultimately, once identified, the role of the specific genetics changes in the development of inherited cancer(s) will be characterized.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Discordant Cancers | — | UNRESOLVED | — |
Interventions
Interventions (4)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Blood Draw | Diagnostic Test | — | UNRESOLVED |
| Saliva Sample | Diagnostic Test | — | UNRESOLVED |
| Skin biopsy | Diagnostic Test | — | UNRESOLVED |
| WES via Illumina NextSeq 550 sequencing system | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- Affected participants with 5 or more discordant cancers - WES
- description
- Affected individuals with a family history of 5 or more discordant cancers in unilateral descent with a 3-generation pedigree will receive SOC CLIA/CAP multicancer panel (DNA collected via blood draw or punch biopsy) to examine monogenic variant diagnostic yield. Eligible participants (families with no mutations and at least 2 affected and 1 non-affected family members) may move forward with WES. Any identified monogenic variants of interest will be sent to an industry partner with CLIA/CAP certification for validation. A 6-month follow-up visit will take place during which variants will be discussed and participants who underwent gHFI variant counting (those who were not considered a gene candidate) will have results explained. Appropriate genetic counselling, recurrence risk, and additional clinical referrals will be made as necessary
- interventionNames
- Genetic: WES via Illumina NextSeq 550 sequencing system
- Diagnostic Test: Blood Draw
- Diagnostic Test: Skin biopsy
- Diagnostic Test: Saliva Sample
- label
- SOC genetic counseling (routine clinical care)
- description
- Affected individuals (cancer) with a family history suggestive of a known hereditary syndrome or meeting NCCN criteria for germline testing will receive SOC CLIA/CAP multicancer panel in order to examine monogenic variant diagnostic yield (retrospective data) This arm would also include prospective participants from the "5 or more discordant cancers" group who DID have a variant identified and therefore did not move on to WES.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
- Maximum age
- 100 Years
Show eligibility criteria text
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.
References
Publications (0)
Data not yet available