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TP53 mutations determined by targeted NGS in breast cancer: a case-control study
Angeliki Andrikopoulou1, Evangelos Terpos1, Spyridoula Chatzinikolaou1
1Department of Clinical Therapeutics, Alexandra Hospital Medical School, Athens 11528, Greece.
Oncotarget
|October 22, 2021
Summary
TP53 gene mutations in breast cancer, detected by next-generation sequencing (NGS), are linked to a higher risk of recurrence. This finding suggests TP53 mutations are a significant prognostic marker for adverse outcomes in breast cancer patients.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- TP53 gene mutations are found in up to 37% of breast tumors, particularly HER-2 positive and basal-like subtypes.
- Previous research identified TP53 mutations as a prognostic biomarker, but often used immunohistochemistry (IHC).
Purpose of the Study:
- To assess the prognostic role of TP53 somatic mutations identified through next-generation sequencing (NGS) in breast cancer patients.
Main Methods:
- Next-generation sequencing (NGS) was performed on tumor and blood samples from 82 female patients with Stage I-III breast cancer.
- A case-control group of 23 TP53-mutated cases was matched with 23 healthy controls based on clinical and pathological factors.
Main Results:
- The most frequent TP53 mutation was NM_000546.5:c.824G>A p.(Cys275Tyr).
- TP53-mutated tumors frequently co-occurred with PIK3CA mutations (17.4%).
- Disease-free survival was significantly shorter in TP53-mutated cases (16.3 months vs. 62.9 months), with an 8-fold increased risk of recurrence.
Conclusions:
- TP53 somatic mutations detected by NGS are associated with an adverse prognosis in breast cancer.
- NGS-based detection of TP53 mutations offers a valuable prognostic tool for breast cancer.
