Publications by authors named "Virginie Galibert"
Article Synopsis
- PARP inhibitors can help breast cancer patients with BRCA1 or BRCA2 gene mutations, affecting their chances of survival during treatment, necessitating a reassessment of who should be tested for these mutations.
- The study analyzed the occurrence of these mutations in breast cancer patients and unaffected individuals, revealing significant rates of gene carriage in both groups.
- Findings showed that about 1.66% of breast cancer patients had gBRCA1, while 1.71% had gBRCA2, with a higher mutation frequency in ER- tumors compared to ER+ tumors.
According to clinical guidelines, the occurrence of very early-onset breast cancer (VEO-BC) (diagnosed ≤ age 30 years) or VEO ovarian cancer (VEO-OC) (diagnosed ≤ age 40 years) in families with or mutation () prompts advancing the age of risk-reducing strategies in relatives. This study aimed to assess the relation between the occurrence of VEO-BC or VEO-OC in families with and age at BC or OC diagnosis in relatives. We conducted a retrospective multicenter study of 448 consecutive families with from 2003 to 2018.
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- BRCA1 and BRCA2 gene mutations play a significant role in hereditary breast cancer and are increasingly important for determining eligibility for PARP inhibitor therapies.
- Updated guidelines for BRCA testing are necessary due to the overlap of genetic testing with both preventive measures and treatment strategies for breast cancer patients.
- An expert international group, including various healthcare professionals, developed recommendations to improve genetic counseling, update testing indications for therapy, and streamline the testing process for managing breast cancer effectively.
Article Synopsis
- The study investigates how family dynamics, clinical, and psychological factors influence the sharing of genetic cancer risk information among relatives of individuals with BRCA1/2 and MMR syndromes, highlighting that only 30% have undergone genetic testing in the past.* -
- Results show that disclosure of hereditary cancer risk decreases with closer familial relationships, and increases as time passes since the initial genetic diagnosis and when probands feel a sense of family cohesion.* -
- Interestingly, while probands' depressive symptoms are linked to higher rates of genetic testing uptake, a heightened perception of cancer risks is associated with lower uptake, suggesting the need for better strategies to facilitate family communication about genetic risks.*
Article Synopsis
- General practitioners (GPs) are increasingly tasked with referring patients for genetics consultations and following up with those carriers of BRCA1/2 mutations, but many feel underprepared for this role.
- A study showed that while 81% of GPs collected family histories, only 24% felt knowledgeable about when to refer patients for genetic consultations, leading to significant patient dissatisfaction regarding GPs' capabilities.
- There is a clear need for better training for GPs and improved communication between GPs and geneticists to enhance care for BRCA1/2 mutation carriers.
In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important medical, ethical, and legal issues. The American College of Medical Genetics and Genomics published a policy statement for managing SFs for a list of genes, including 25 cancer-related genes. Currently, there are few recommendations in Europe.
View Article and Find Full Text PDFPurpose: This report compares the risk factors, the tumor phenotypes, and the BRCA1/BRCA2 genotype of early onset breast cancer (EOBC) patients between Southern Europe and North Africa.
Methods: Four hundred and fifty six women with invasive EOBC (≤40 years) were prospectively included from four centers in France (n = 270) and four centers in North Africa (Algeria, Egypt, Morocco, Tunisia; n = 186). Life style, tumor phenotype, familial history, BRCA1/BRCA2 genotype were compared between the two populations.