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Getting the latest healthcare news for you
Getting the latest healthcare news for you

When young women get tested for BRCA mutations matters — a lot. A large international study found that women aged 40 and under who received genetic testing before their breast cancer diagnosis were far more likely to choose bilateral mastectomy (57%) than those tested after diagnosis (5.1%). The findings support expanding access to early genetic testing to help young patients make more informed surgical decisions.
Timing is everything — at least when it comes to genetic testing and breast cancer surgery. A large retrospective study published in JAMA Network Open found that among women aged 40 and under who carry BRCA1/2 germline variants, those who were tested before their breast cancer diagnosis were dramatically more likely to undergo bilateral mastectomy than those tested afterward.
The study, spanning 109 centers across 5 continents and covering diagnoses from 2000 to 2020, also revealed a clear shift over time: bilateral mastectomy rates jumped from just 8% in 2000 to 44.4% in 2020, while breast-conserving surgery dropped from 55.7% to 27%. Reconstructive surgery also became more common, rising from 53.8% to 78.4% among mastectomy patients.
By the Numbers
Why it matters: These findings make a strong case for expanding early genetic testing access. Knowing BRCA status before or at diagnosis gives young women the information they need to make surgical choices aligned with their long-term risk — potentially reducing future cancer burden.