BRCA2 Mutation, Breast Cancer, Genetic Disease
Conditions
Keywords
reunion
Brief summary
In mainland France, breast cancer is the most common cancer in women, with an estimated incidence of over 58,000 new cases. Even if breast cancer is a cancer with a good prognosis, it is responsible for more than 12,000 deaths per year (first cause of death by cancer in women in France). Breast cancer is a multifactorial disease, which results from the interaction between environmental, lifestyle, hormonal and genetic risk factors. In Reunion, more than 400 cases of breast cancer are diagnosed annually. As in mainland France, it is by far the most common cancer in Reunionese women, and its incidence continues to increase significantly since the age-standardized incidence rate increased by 28% between 2007 and 2017 to establish at 64.2/100,000 AP. Two studies carried out in patients carrying mutations in the breast-ovary predisposition genes in Reunion, showed that more than 50% of patients carrying BRCA mutation have a mutation specific to the Reunion population on the BRCA2 gene. These two studies, which confirm the genetic specificities of Reunion already described in other pathologies (Mucoviscidosis or Friedreich's Ataxia), suggest that this mutation could have a significant frequency in patients with breast cancer. Thus, evaluating the prevalence of this mutation in patients with breast cancer in Réunion would make it possible to adapt the indications for access to the oncogenetics consultation and the associated preventive measures
Interventions
GENETICblood sample for BRCA2 mutation detection
blood sample
Sponsors
Centre Hospitalier Universitaire de la Réunion
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Domiciled in Reunion at the time of the diagnosis * Who is diagnosed with a first breast cancer (in situ or invasive) confirmed by anatomopathological examination during the inclusion period Or Who is diagnosed with a second breast cancer (in situ or invasive) confirmed by pathological examination during the inclusion period, contralateral to the first or at least 5 years after remission of the first * Having agreed to participate in the study; * Affiliates or beneficiaries of a social security scheme
Exclusion criteria
* Carriers of breast lymphoma, * Minor patients or patients under guardianship or curatorship
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| determine the prevalence of the Réunion mutation in the BRCA2 gene (c.2612C>A mutation of exon 11) in the population of individuals residing in Réunion who are diagnosed with breast cancer. | inclusion day |
Countries
France
Outcome results
None listed