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

NCT ID: NCT02664389

Last Updated: 2020-06-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

289 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-02-01

Study Completion Date

2017-03-15

Brief Summary

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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

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Conditions

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

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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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

Group Type EXPERIMENTAL

Genetic analysis

Intervention Type GENETIC

Sequencing of 200 selected genes in the different study populations

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

Group Type EXPERIMENTAL

Genetic analysis

Intervention Type GENETIC

Sequencing of 200 selected genes in the different study populations

Genetic analysis of patient with pediatric cancer

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

Group Type EXPERIMENTAL

Genetic analysis

Intervention Type GENETIC

Sequencing of 200 selected genes in the different study populations

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

Group Type EXPERIMENTAL

Genetic analysis

Intervention Type GENETIC

Sequencing of 200 selected genes in the different study populations

Genetic analysis of patient with multiple primary tumors

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

Group Type EXPERIMENTAL

Genetic analysis

Intervention Type GENETIC

Sequencing of 200 selected genes in the different study populations

Interventions

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Genetic analysis

Sequencing of 200 selected genes in the different study populations

Intervention Type GENETIC

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Rouen

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Thierry FREBOURG, Pr

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Rouen

Locations

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Rouen University Hospital

Rouen, , France

Site Status

Countries

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France

Other Identifiers

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2015/160/HP

Identifier Type: -

Identifier Source: org_study_id

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