NCT02664389

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 289 (actual)
• Sponsor: University Hospital, Rouen · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Type	Name	Description
GENETIC	Genetic analysis	Sequencing of 200 selected genes in the different study populations

Timeline

• Start date: 2016-02-01
• Primary completion: 2017-03-15
• Completion: 2017-03-15
• First posted: 2016-01-27
• Last updated: 2020-06-30

Locations

1 site across 1 country: France