MedPath

Triple Negative Breast Cancer: Study of Molecular and Genetic Factors

Not Applicable
Conditions
Breast Cancer
Interventions
Genetic: BRCA1 BRCA2 PTEN PALB2 mutation
Registration Number
NCT01434420
Lead Sponsor
Institut Paoli-Calmettes
Brief Summary

Breast cancer triples negatives (TN; 15 % of the cases) are characterized by a high histoprognostic grade, a strong proliferation, a strong metastatic power, and a worse prognosis than the other forms of breast cancer. It is however a heterogenous group for histological and molecular level, but also for evolution. Most of the TN is part of the basal breast cancer subcategory. Until now, the medical treatment is based on chemotherapy.

Breast cancers by constitutional mutation of BRCA1 / BRCA2 (5 % of breast cancers) are mostly of basal type and their prognostic seems better that what could be expected from high grade tumours and without hormonal receptors. They would be much more frequent in the TN group. However, at this day, no prospective study was led to estimate this incidence, or to study the intervention of other genes of predisposition, as well to analyse the links between this phenotype and their consequences at the germinal or somatic level, in terms of associated molecular changes and prognosis.

The purpose of this study is, on a prospective study, to lead a joined analysis at the germinal level, in search of mutations of the main genes of breast cancer predisposition (BRCA1/2, PALB2, PTEN, PALB2), and at the tumour level (tissue micro-array and transcriptome), by correlating these results to the main clinical parameters.

The 5 years relapse-free survival will also be estimated.

Detailed Description

Not available

Recruitment & Eligibility

Status
UNKNOWN
Sex
Female
Target Recruitment
200
Inclusion Criteria
  • women > 18
  • non metastatic breast cancer
  • triple negative
  • 5 years follow-up
  • signed informed consent
Exclusion Criteria
  • other cancer (except in situ)
  • metastases at diagnosis
  • impossibility of follow-up

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Triple negative breast cancerBRCA1 BRCA2 PTEN PALB2 mutationTriple negative breast cancer
Primary Outcome Measures
NameTimeMethod
incidence of BRCA1/2, PALB2, PTEN, PALB2 mutationsup to 1 month

1) Determine the incidence of the BRCA1/2, PALB2, PTEN, PALB2 mutations in patients having at diagnosis a non metastatic triple negative breast cancer

Secondary Outcome Measures
NameTimeMethod
molecular profilesup to 1 month

2) Determine by tissue micro- array and transcriptome the molecular profiles and their correlation with the presence of a mutation

years relapse-free survivalat 5 years

3) Determine the 5 years relapse-free survival in presence or not of a mutation, and according to the molecular profile of expression.

Trial Locations

Locations (4)

Institut Paoli-Calmettes

🇫🇷

Marseille, France

Centre jean Perrin

🇫🇷

Clermont-Ferrand, France

Hopital La Timone

🇫🇷

Marseille, France

Centre Antoine Lacassagne

🇫🇷

Nice, France

© Copyright 2025. All Rights Reserved by MedPath