Association of ABCB1 and VEGFA gene polymorphisms with breast cancer susceptibility and prognosis

• Published in: Pathology, research and practice research and practice, 2020-04, Vol.216 (4), p.152860-152860, Article 152860
• Main Authors: Madrid-Paredes, Adela, Casado-Combreras, Miguel Ángel, Pérez-Ramírez, Cristina, Segura-Pérez, Ana María, Chamorro-Santos, Clara, Vergara-Alcalde, Esther, Sánchez-Pozo, Antonio, Calleja-Hernández, Miguel Ángel, Cañadas-Garre, Marisa
• Format: Article
• Language: English
• Subjects: Aged; ATP Binding Cassette Transporter, Subfamily B - genetics; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - mortality; Case-Control Studies; Disease-Free Survival; Female; Genetic Predisposition to Disease - genetics; Genotype; Humans; Middle Aged; Polymorphism, Single Nucleotide; Polymorphisms; Prognosis; Retrospective Studies; Susceptibility; Vascular Endothelial Growth Factor A - genetics
• ISSN: 0344-0338; 1618-0631
• DOI: 10.1016/j.prp.2020.152860

Breast cancer (BC) is the most common cause of cancer-related death in women worldwide. Several ABCB1 and VEGFA gene polymorphisms, such as ABCB1-G1199 T/A (rs2229109), VEGFA -634 G > C (rs2010963), VEGFA 2578 C > A (rs699947) and VEGFA 7 C > T (rs25648) have been associated with risk of BC and clinical outcomes. The purpose of this study was to evaluate the association between these gene polymorphisms and BC risk and prognosis. A retrospective case-control study was conducted, including 84 BC cases and 119 controls of Spanish (European, Caucasian) origin. ABCB1-G1199 T/A (rs2229109), VEGFA -634 G > C (rs2010963), VEGFA 2578 C > A (rs699947) and VEGFA 7 C > T (rs25648) gene polymorphisms were analysed by TaqMan®. The genotypic logistic regression model adjusted by aged revealed no association with any of the polymorphisms and BC risk, although the C-allele of VEGFA 2578 C > A showed a trend to higher BC risk in the allelic and recessive models (p = 0.055 and 0.054, respectively). There was no influence of these gene polymorphisms on overall survival (OS). The univariate Cox model showed that carriers of the A-allele for VEGFA 2578 C > A tended to have longer OS compared to CC patients (CC vs A-allele Hazard ratio (HR): 2.08; CI95 % = 0.96–4.49; p = 0.0587). There was no association between the gene polymorphisms analysed and disease-free survival (DFS). The univariate Cox model showed a trend toward a longer DFS in patients carrying ABCB1-G1199 T/A GG genotype compared to those with A-allele (GG vs A-allele HR: 0.43; CI95 % = 0.18–1.03; p = 0.0612). No influence of ABCB1-G1199 T/A (rs2229109), VEGFA -634 G > C (rs2010963), VEGFA 2578 C > A (rs699947) and VEGFA 7 C > T (rs25648) gene polymorphisms on risk of developing BC was found in our study. There was no association between the polymorphisms studied and DFS and OS.