HER2 and BARD1 Polymorphisms in Early HER2-Positive Breast Cancer Patients: Relationship with Response to Neoadjuvant Anti-HER2 Treatment
Identificadores
URI: http://hdl.handle.net/20.500.12020/985DOI: https://doi.org/10.3390/cancers15030763
Fecha
2023-01Tipo de documento
articleÁrea/s de conocimiento
Ciencias BiomédicasMateria/s Unesco
32 Ciencias MédicasResumen
The addition to chemotherapy of anti-HER2 drugs such as trastuzumab or pertuzumab has
improved outcomes in HER2-positive breast cancer patients. However, resistance to these drugs in
some patients remains a major concern. This study examines the possible association between the
response to neoadjuvant anti-HER2 treatment in breast cancer patients and the presence of 28 SNPs
in 17 genes involved in different cell processes (PON1, CAT, GSTP1, FCGR3, ATM, PIK3CA, HER3,
BARD1, LDB2, BRINP1, chr6 intergenic region, RAB22A, TRPC6, LINC01060, EGFR, ABCB1, and
HER2). Tumor samples from 50 women with early breast cancer were genotyped using the iPlex®Gold
chemistry and MassARRAY platform, and patients were classified as good responders (Miller–Payne
tumor grades 4–5) and poor responders (Miller–Payne tumor grades 1–3), as assessed upon surgery
after 6 months of treatment. Proportions of patients with the HER2Ala1170Pro (rs1058808) SNP
double mutation were higher in good (58.62%) than poor (20%) responders (p = 0.025). Similarly,
proportions of patients carrying the synonymous SNP rs2070096 (BARD1Thr351=) (wv + vv) were
higher in patients showing a pathological complete response (46.67%) than in those not showing this
response (15.15%) (p = 0.031). The SNPs rs1058808 (HER2Ala1170Pro) and rs2070096 (BARD1Thr351=) were identified here as potential biomarkers of a good response to anti-HER2 treatment.