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

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ClinicalTrials.gov Identifier: NCT02664389
Recruitment Status : Recruiting
First Posted : January 27, 2016
Last Update Posted : April 27, 2018
Sponsor:
Information provided by (Responsible Party):
University Hospital, Rouen

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Breast Cancer Ovarian Cancer Colorectal Cancer Pediatric Cancers Multiple Primary Malignant Tumours Genetic: Genetic analysis Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 600 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
Study Start Date : February 2016
Estimated Primary Completion Date : July 2018
Estimated Study Completion Date : December 2018

Resource links provided by the National Library of Medicine


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




Primary Outcome Measures :
  1. 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



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02664389


Contacts
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Contact: Thierry FREBOURG, Pr thierry.frebourg@chu-rouen.fr
Contact: Julien BLOT julien.blot@chu-rouen.fr

Locations
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France
Rouen University Hospital Recruiting
Rouen, France, 76031
Contact: Thierry FREBOURG, Pr         
Principal Investigator: Thierry FREBOURG, Pr         
Sponsors and Collaborators
University Hospital, Rouen
Investigators
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Principal Investigator: Thierry FREBOURG, Pr Rouen University Hospital

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Responsible Party: University Hospital, Rouen
ClinicalTrials.gov Identifier: NCT02664389    
Other Study ID Numbers: 2015/160/HP
First Posted: January 27, 2016    Key Record Dates
Last Update Posted: April 27, 2018
Last Verified: April 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Neoplasms