Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
NCT02664389 · Status: TERMINATED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 289
Last updated 2026-05-06
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.
Conditions
- Breast Cancer
- Ovarian Cancer
- Colorectal Cancer
- Pediatric Cancers
- Multiple Primary Malignant Tumours
Interventions
- GENETIC
-
Genetic analysis
Sequencing of 200 selected genes in the different study populations
Sponsors & Collaborators
-
University Hospital, Rouen
lead OTHER
Principal Investigators
-
Thierry FREBOURG, Pr · University Hospital, Rouen
Study Design
- Allocation
- NON_RANDOMIZED
- Purpose
- DIAGNOSTIC
- Masking
- NONE
- Model
- PARALLEL
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2016-02-01
- Primary Completion
- 2017-03-15
- Completion
- 2017-03-15
Countries
- France
Study Locations
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