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

Not Applicable

Completed

• Conditions: Pediatric Cancers; Ovarian Cancer; Breast Cancer; Colorectal Cancer; Multiple Primary Malignant Tumours

• Registration Number: NCT02664389
• Lead Sponsor: 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2016-01-22
• Study First Submitted QC: 2016-01-22
• Study First Posted: 2016-01-27
• Study Start: 2016-02-01
• Primary Completion: 2017-03-15
• Study Completion: 2017-03-15
• Status Verified: 2020-06
• Last Update Submitted: 2020-06-26
• Last Update Posted: 2020-06-30

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 289

Inclusion Criteria

Not provided

Exclusion Criteria

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
Frequency of germline deleterious mutations	Day 1	Frequency of germline deleterious mutations will be assessed for the 200 selected genes using next generation sequencing method

Trial Locations

Locations (1)

Rouen University Hospital; 🇫🇷 Rouen, France