Breast Cancer
Conditions
Keywords
triple negative breast cancer
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.
Interventions
GENETICBRCA1 BRCA2 PTEN PALB2 mutation
detection of BRCA1 BRCA2 PTEN PALB2 mutation
Sponsors
Institut Paoli-Calmettes
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| incidence of BRCA1/2, PALB2, PTEN, PALB2 mutations | up 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
| Measure | Time frame | Description |
|---|---|---|
| molecular profiles | up 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 survival | at 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. |
Countries
France
Outcome results
None listed