β4 INTEGRIN MUTATION R1281W IN A WOMEN POPULATION WITH BREAST CANCER FROM MISIONES

ACOSTA KARINA BEATRIZ; LORENZINI CAMPOS MELINA NOELIA; ZAPATA PEDRO DARÍO

Mendoza

Congreso; SAIB - 50th Annual Meeting Argentine Society for Biochemistry and Molecular Biology / L Reunión Anual Sociedad Argentina de Investigación en Bioquímica y Biología Molecular; 2014

Sociedad Argentina de Investigación Bioquímica

Integrins are heterodimers consisting of an alpha (α) and a beta subunit (β), which are involved in cell essential tasks such as: attachment, migration, proliferation and cell growth. The β4 subunit is encoded by ITGB4 gene and beside α6 subunit form the α6β4 integrin, which is part of the anchoring joints or hemidesmosomes (HD) and seems to be involved in malignancy of breast cancer. A pathogenic mutation at nucleotide position 3841 of ITGB4 gene result in an amino acid change at position 1281 of the β4 subunit, R1281W (rs121912467). This residue would be located at a critical point of integrin and its presence would affect the structure of the HD, decreasing cell adhesion, which is a requirement for cancer development. The aim of this work was to determine the presence of R1281W mutation in ITGB4 gene in 64 women with breast cancer and 30 controls from Posadas, Misiones. Blood samples were collected and DNA was extracted by Salting out method. R1281W mutation was analyzed by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). We found that all individuals from both cases and controls groups were homozygous for wild type genotype CC (Trp), we did not find any mutant allele carrier homozygous (TT) or heterozygous (CT) at the ITGB4 codon 1281 mutation. Although we did not find the mutation, this could be due to the size limitations of our study.