Elisa Agostinetto: Different clinical behavior of breast cancer in young BRCA1 and BRCA2 carriers
Elisa Agostinetto, Clinical Research Fellow at Institute Jules Bordet, shared a post on X about a paper she co-authored with colleagues published in Journal of Clinical Oncology:
Authors: Matteo Lambertini, Eva Blondeaux, Loredana Tomasello, Elisa Agostinetto, Luca Boni, Judith Balmaña et al.
“Now out in Journal of Clinical Oncology the results of our global collaboration led by Matteo Lambertini showing different clinical behavior of breast cancer in young BRCA1 and BRCA2 carriers, and the impact of timing of genetic testing on prognosis.
The BRCA BCY Collaboration (NCT03673306) is the largest global cohort of BRCA carriers with diagnosis of breast cancer at young age, a purely academic effort involving multiple institutions from several countries worldwide.
In this analysis, we addressed two main questions:
- is there a difference in the clinical behavior of breast cancer in young BRCA1 versus BRCA2 carriers?
- what is the association of prediagnostic awareness of germline BRCA status with prognosis?
Key findings are below:
Answer 1 – BRCA1 vs. BRCA2
BRCA1 carriers had high hormone receptor–negative and high-grade tumors, compared to BRCA2. Similar outcomes were observed in BRCA1 and BRCA2 carriers but with a different pattern and risk of disease-free survival events over time.
Answer 2 – BRCA Test Before Diagnosis Versus BRCA Test at Diagnosis
Identification of carrying a BRCA PV in healthy individuals was associated with earlier-stage breast cancer diagnosis and lower treatment burden, as well as better unadjusted OS.
In conclusion, our results highlight the importance of identifying healthy women at risk of carrying a BRCA1 or BRCA2 PV to offer genetic counselling and testing to inform them about early detection options that may lead to better prognosis
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