Identification of SNPs Associated with Response of Breast Cancer Patients to Neoadjuvant Chemotherapy

Researchers have identified several single-nucleotide polymorphisms (SNPs) that are associated with the response of breast cancer patients to neoadjuvant chemotherapy. The study used cell line panels and genotyped a subset of patients included in a neoadjuvant breast cancer trial to explore the relationship between genotypes and clinical outcome according to treatment received and p53 status. The research revealed that certain SNPs were significantly associated with pathological complete response (pCR) and overall survival (OS) in patients with breast cancer.

Key Takeaways:

• The study identified associations between SNPs and chemosensitivity in breast cancer cell lines.
• The researchers genotyped 384 selected SNPs in 243 patients to explore the relationship between genotypes and clinical outcome.
• CYP1B1 polymorphism was significantly associated with pCR in patients who received DNA-damaging agents.
• MDM2, MDM4, and TP53BP1 polymorphisms were significantly associated with pCR in patients harboring a p53-positive tumor.
• ADH1C genotype was significantly associated with OS, along with p53 status.
• The study applied correction for multiple testing.
• A total of 243 patients were included in the study.
• 384 SNPs were analyzed in the study.

Statistics:

• 243 patients were included in the study.
• 384 selected SNPs were genotyped in the study.
• 5 genes (CYP1B1, MDM2, MDM4, TP53BP1, and ADH1C) were found to have polymorphisms associated with pCR or OS.
• 1 SNP (ADH1C R272Q) was significantly associated with overall survival (OS) at P = 0.0023.
• The study applied corrections for multiple testing.

Sources:

• [1] Identification of SNPs associated with response of breast cancer patients to neoadjuvant chemotherapy in the EORTC-10994 randomized phase III trial. Pharmacogenomics Journal, 2015;15(1):63-68.