Madrid-Paredes, AdelaCasado-Combreras, Miguel AngelPerez-Ramirez, CristinaSegura-Perez, Ana MariaChamorro-Santos, ClaraVergara-Alcalde, EstherSanchez-Pozo, AntonioCalleja-Hernandez, Miguel AngelCañadas-Garre, Marisa2023-02-082023-02-082020-02-10Madrid-Paredes A, Casado-Combreras MÁ, Pérez-Ramírez C, Segura-Pérez AM, Chamorro-Santos C, Vergara-Alcalde E, et al. Association of ABCB1 and VEGFA gene polymorphisms with breast cancer susceptibility and prognosis. Pathol Res Pract. 2020 Apr;216(4):152860.http://hdl.handle.net/10668/15196Breast 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.enBreast cancerPolymorphismsPrognosisSusceptibilityATP Binding Cassette Transporter, Subfamily BAgedBreast NeoplasmsCase-Control StudiesDisease-Free SurvivalFemaleGenetic Predisposition to DiseaseGenotypeHumansMiddle AgedPolymorphism, Single NucleotidePrognosisRetrospective StudiesVascular Endothelial Growth Factor Aresearch article32127237Restricted AccessAncianoFactor A de crecimientoEndotelial vascularGenotipoNeoplasias de la mamaPolimorfismo de nucleótido simplePredisposición genética a la enfermedadPronósticoSubfamilia B de transportador de casetes de unión a ATPSupervivencia sin enfermedad10.1016/j.prp.2020.1528601618-0631https://pureadmin.qub.ac.uk/ws/files/202865718/Association.pdf