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

NCT02664389 | Terminated

• 1 other identifier: 2015/160/HP
• Study Type: interventional
• Target: 289
• Locations: 1 country
• Sites: 1

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.

Conditions

Breast Cancer; Ovarian Cancer; Colorectal Cancer; Pediatric Cancers; Multiple Primary Malignant Tumours

Outcome Measures

Primary Outcomes (1)

• Frequency of germline deleterious mutations

  Frequency of germline deleterious mutations will be assessed for the 200 selected genes using next generation sequencing method

  Day 1

Study Arms (5)

Genetic analysis of patient with early-onset breast cancer

EXPERIMENTAL

Sequencing of 200 selected genes in patient with early-onset breast cancer without genomic alterations of BRCA1, BRCA2 or TP53

Genetic: Genetic analysis

Genetic analysis of patient with early-onset ovarian cancer

EXPERIMENTAL

Sequencing of 200 selected genes in patient with early-onset ovarian cancer without genomic alterations of BRCA1, BRCA2

Genetic: Genetic analysis

Genetic analysis of patient with pediatric cancer

EXPERIMENTAL

Sequencing of 200 selected genes in patient with pediatric cancer without genomic alteration of TP53

Genetic: Genetic analysis

Genetic analysis of patient with early-onset colorectal cancer

EXPERIMENTAL

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

Genetic analysis of patient with multiple primary tumors

EXPERIMENTAL

Sequencing of 200 selected genes in patient with Multiple primary malignant tumors without syndromic presentation

Genetic: Genetic analysis

Interventions

Genetic analysis GENETIC

Sequencing of 200 selected genes in the different study populations

Genetic analysis of patient with early-onset breast cancer; Genetic analysis of patient with early-onset colorectal cancer; Genetic analysis of patient with early-onset ovarian cancer; Genetic analysis of patient with multiple primary tumors; Genetic analysis of patient with pediatric cancer

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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 :

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Rouen: lead

Study Sites (1)

Rouen University Hospital

Rouen, 76031, France

Location

MeSH Terms

Conditions

Breast Neoplasms; Ovarian Neoplasms; Colorectal Neoplasms

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Endocrine System Diseases; Gonadal Disorders; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Rectal Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Thierry FREBOURG, Pr

  University Hospital, Rouen

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 22, 2016
• First Posted: January 27, 2016
• Study Start: February 1, 2016
• Primary Completion: March 15, 2017
• Study Completion: March 15, 2017
• Last Updated: May 6, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)