Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation (PANEL)

April 29, 2026 updated by: University Hospital, Rouen
Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non contributive. As somatic cancer genes are limited, the hypothesis is that the targeted next-generation sequencing of 200 genes, selected for their implications in cancers may contribute to the understanding of many selected patients' presentation by the identification of germline deleterious mutations, and may identified phenotype overlapping and/or mosaicisms. The focus will be put on early-onset breast, ovarian, colorectal cancer or pediatric cancers and multiple primary tumors.

Study Overview

Status

Terminated

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

289

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Rouen, France, 76031
        • Rouen University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

Inclusion Criteria :

  • Older than 18 or parental agreement in case of children.

For patient with early-onset breast cancer :

  • Invasive breast cancer, regardless of histological type or stage, diagnosed before 31 years.
  • Sporadic or familial presentation
  • No genomic alterations of BRCA1, BRCA2 or TP53

For patient with early-onset ovarian cancer :

  • Invasive ovarian cancer, regardless of histological type or stage, diagnosed before 41 years.
  • Sporadic or familial presentation
  • No genomic alterations of BRCA1, BRCA2

Patient with early-onset colorectal cancer :

  • Invasive colorectal cancer diagnosed before 31 years.
  • Sporadic or familial presentation
  • No genomic alteration of MSH2, MLH1 or MSH6 in case of HNPCC presentation
  • No genomic alteration of APC, MUTYH, SMAD4, BMPR1A, PTEN or STK11 in case of adenomatous polyposis or hamartoma presentation

Patient with pediatric cancer :

  • Non haematological tumour diagnosed before 16 years, with Li-Fraumeni presentation.
  • No genomic alteration of TP53

Patient with Multiple primary malignant tumours :

  • Multiple synchronous or metachronous primary malignant tumors with early-onset
  • No syndromic presentation

Exclusion Criteria:

  • Any already known deleterious mutations according to the patient's phenotype

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Genetic analysis of patient with early-onset breast cancer
Sequencing of 200 selected genes in patient with early-onset breast cancer without genomic alterations of BRCA1, BRCA2 or TP53
Genetic: Genetic analysis
Sequencing of 200 selected genes in the different study populations
Experimental: Genetic analysis of patient with early-onset ovarian cancer
Sequencing of 200 selected genes in patient with early-onset ovarian cancer without genomic alterations of BRCA1, BRCA2
Genetic: Genetic analysis
Sequencing of 200 selected genes in the different study populations
Experimental: Genetic analysis of patient with pediatric cancer
Sequencing of 200 selected genes in patient with pediatric cancer without genomic alteration of TP53
Genetic: Genetic analysis
Sequencing of 200 selected genes in the different study populations
Experimental: Genetic analysis of patient with early-onset colorectal cancer
Sequencing of 200 selected genes in patient with early-onset colorectal cancer without genomic alteration of APC, MUTYH, SMAD4, BMPR1A, PTEN or STK11 in case of adenomatous polyposis or hamartoma presentation or without genomic alteration of MSH2, MLH1 or MSH6 in case of HNPCC presentation
Genetic: Genetic analysis
Sequencing of 200 selected genes in the different study populations
Experimental: Genetic analysis of patient with multiple primary tumors
Sequencing of 200 selected genes in patient with Multiple primary malignant tumors without syndromic presentation
Genetic: Genetic analysis
Sequencing of 200 selected genes in the different study populations

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Frequency of germline deleterious mutations
Time Frame: Day 1
Frequency of germline deleterious mutations will be assessed for the 200 selected genes using next generation sequencing method
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Rouen

Investigators

  • Principal Investigator: Thierry FREBOURG, Pr, University Hospital, Rouen

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2016

Primary Completion (Actual)

March 15, 2017

Study Completion (Actual)

March 15, 2017

Study Registration Dates

First Submitted

January 22, 2016

First Submitted That Met QC Criteria

January 22, 2016

First Posted (Estimated)

January 27, 2016

Study Record Updates

Last Update Posted (Actual)

May 6, 2026

Last Update Submitted That Met QC Criteria

April 29, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2015/160/HP

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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