Abstract
To identify genomic markers associated with the response to neoadjuvant chemotherapy (NACT) in patients with cervical cancer, we performed a three-stage genome-wide association study (GWAS) in the Han Chinese population. A total of 596 patients with stage IA2-IIIB cervical cancer were enrolled in this study. One single nucleotide polymorphism (SNP) (rs6812281, per allele OR = 2.37, P = 9.0 × 10−9) located at 4q34.3 reached GWAS significance (P < 5.0 × 10−8). Another three SNPs, rs4590782 (10q26.2, P = 1.59 × 10−5, per allele OR = 0.48), rs1742101 (14q32.11, P = 7.11 × 10−6, per allele OR = 0.52), and rs1364121 (16q23.3, P = 3.15 × 10−6, per allele OR = 1.98), exhibited strong evidence of associations with response to neoadjuvant chemotherapy. Patients with a C allele (CT + CC) of rs4590782 had better 5-year overall survival rates (82.9% vs. 75.8%, P = 0.083) and 5-year disease-free survival rate (80.8% vs. 72.7%, P = 0.021) than those without a C allele. Our findings help to characterize the genetic etiology of the response to neoadjuvant chemotherapy in patients with cervical cancer.
Highlights
Characteristics No Age, year Federation of Gynecology and Obstetrics (FIGO) stage IA2 IB1 IB2 IIA IIB IIIA IIIB IA2-IIA IIB-IIIB Histology Squamous cell carcinoma Adenocarcinomaa Tumor size
When all 596 patients were analyzed, the response to Neoadjuvant chemotherapy (NACT) was associated with tumor size (P < 0.001) but was not associated with age (P = 0.40), FIGO stage (P = 0.22), or histology (P = 0.59)
Genetic polymorphisms have been shown to be associated with the response to platinum-based chemotherapy in gynecological cancers[10]
Summary
Characteristics No Age, year FIGO stage IA2 IB1 IB2 IIA IIB IIIA IIIB IA2-IIA IIB-IIIB Histology Squamous cell carcinoma Adenocarcinomaa Tumor size
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