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Breast Cancer Molecular and Genetic Testing
Ning Liao
Most of what we know about the genomics of breast cancer was written from Western cohorts. Professor Ning Liao spent seven years asking whether it holds in Chinese patients, and where it doe...
Most of what we know about the genomics of breast cancer was written from Western cohorts. Professor Ning Liao spent seven years asking whether it holds in Chinese patients, and where it does not, the differences change how we treat.
Drawing on more than a decade of next-generation sequencing at Guangdong Provincial People's Hospital, Professor Liao maps the somatic and germline landscape of breast cancer in a Chinese population and sets it against the Western reference. The picture that emerges is not a smaller version of the same disease. It is a different distribution of drivers, and that has direct consequences for testing, for targeted therapy, and for how we read a patient's risk.
Key points for clinicians:
In this cohort, the most frequently mutated somatic gene is TP53 at 45 percent, followed by PIK3CA at 44 percent and HER2 amplification or mutation at 24 percent, each higher than reported Western rates.
The leading germline finding is BRCA2 at 3.44 percent rather than BRCA1 at 2.10 percent, a reversal of the usual expectation, with PALB2, CDH1, and RAD51C following.
ESR1 mutation runs near 1 percent in primary disease and rises to 18.6 percent in metastatic disease, a marker of acquired endocrine resistance worth tracking.
HER2 focal versus broad amplification, and HER2 copy number, help predict response to neoadjuvant anti-HER2 therapy, including antibody-drug conjugates.
A weekly international Molecular Tumor Board, now in its seventh year, turns these findings into individual treatment plans.