title: α6β4 Integrin Genetic Variations (A380T and R1281W) and Breast Cancer Risk in an Argentinian Population.
abstract: The α6β4 integrin is composed of the α6 and β4 subunits that are encoded by theITGα6and theITGβ4genes, respectively. The α6β4 main function is to intervene in lamination and epithelia integrity maintenance by cell-matrix interactions. This integrin appears to have importance in breast cancer malignancy, as well as other epithelial carcinomas. The aim of this work was to investigate the potential role ofITGα6(A380T) andITGβ4(R1281W) genetic variations in breast cancer susceptibility, in a female population from the northeast region of Argentina (Misiones). We performed a case-control study of 85 breast cancer patients and 113 cancer-free controls. Genotyping was performed by RFLP-PCR. ForITGα6(A380T) single nucleotide polymorphism, a high frequency of heterozygous genotype GA in cases compared to controls was observed, achieving values of 48% and 49%, respectively. No association between the A380T SNP and breast cancer development was found (Odds Ratio = 0.92; 95% Confidence Interval = 0.52-1.63;p= 0.884). In conclusion, we did not find evidence of an association between A380T (ITGα6) and the risk of developing breast cancer. The results represent the first report of these genetic variations in breast cancer; therefore, they are an important contribution to the literature.
authors.affiliation: Instituto de Biotecnología Misiones "Dra. Maria EbeReca" (InBioMis), Facultad de Ciencias Exactas, Químicas y Naturales, Universidad Nacional de Misiones, Ruta Nacional Nº12 km 7 ½, Posadas 3300, Argentina. acostakb@yahoo.com.ar.
authors.forename: Karina Beatriz
authors.initials: KB
authors.lastname: Acosta
authors.affiliation: Instituto de Biotecnología Misiones "Dra. Maria EbeReca" (InBioMis), Facultad de Ciencias Exactas, Químicas y Naturales, Universidad Nacional de Misiones, Ruta Nacional Nº12 km 7 ½, Posadas 3300, Argentina. melinalorenzini@hotmail.com.
authors.forename: Melina Noelia
authors.initials: MN
authors.lastname: Lorenzini Campos
authors.affiliation: Cátedra de Bioquímica Patológica, Facultad de Ciencias Exactas, Universidad Nacional de La Plata, 47 y 115, La Plata 1900, Argentina. etcheverry@biol.unlp.edu.ar.|Centro de Química Inorgánica (CEQUINOR, CONICET), Facultad de Ciencias Exactas, Universidad Nacional de La Plata, 47 y 115, La Plata 1900, Argentina. etcheverry@biol.unlp.edu.ar.
authors.forename: Susana Beatriz
authors.initials: SB
authors.lastname: Etcheverry
authors.affiliation: Instituto de Biotecnología Misiones "Dra. Maria EbeReca" (InBioMis), Facultad de Ciencias Exactas, Químicas y Naturales, Universidad Nacional de Misiones, Ruta Nacional Nº12 km 7 ½, Posadas 3300, Argentina. pdr_dario@yahoo.com.
authors.forename: Pedro Dario
authors.initials: PD
authors.lastname: Zapata
mesh_terms: D000328:Adult; D000368:Aged; D001118:Argentina / Q000453:epidemiology; D001940:Breast / Q000378:metabolism / Q000473:pathology; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D039503:Integrin alpha6 / Q000235:genetics*; D039663:Integrin beta4 / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012306:Risk
chemical_list: C588002:ITGA6 protein, human; C059834:ITGB4 protein, human; D039503:Integrin alpha6; D039663:Integrin beta4
keywords: breast cancer; genetic variations; α6β4 integrin