TerminatedNot Applicable

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

Stopped: Difficulty in enrolling patients

France289 participantsStarted 2016-02-01

Plain-language 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.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Frequency of germline deleterious mutations

Timeframe: Day 1

Trial details

NCT IDNCT02664389

SponsorUniversity Hospital, Rouen

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2017-03-15

View on ClinicalTrials.gov More Breast Cancer trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.