Wednesday, 12 March 2025

Distinct patient, tumour, treatment characteristics and a different pattern and risk of survival events over time between young BRCA1/2 carriers

 Findings from a large-scale 20-year multicentre hospital=based retrospective cohort study were recently published in Journal of Clinical Oncology.  Conducted on 4752 patients with BRCA1 or BRCA2, "diagnosed with stage I-III invasive breast cancer at 40 years or younger...provides evidence on the different clinical behaviour of breast cancer according to the specific BRCA gene and the association of the timing of genetic testing with prognosis." This study also emphasized the importance of early identification of women carrying a BRCA1 or BRCA2 variant, in addition to providing genetic counselling and creating greater awareness about "early detection options that may lead to better prognosis." 

Source mentioned:  

Lambertini M, Blondeaux E, Tomasello LM, et al. Clinical Behavior of Breast Cancer in Young BRCA Carriers and Prediagnostic Awareness of Germline BRCA StatusJCO; Published online 24 February 2025. DOI: https://doi.org/10.1200/JCO-24-01334

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