ß4 INTEGRIN MUTATION R1281W IN A WOMEN POPULATION WITH BREAST CANCER FROM MISIONES.

ACOSTA, KARINA BEATRIZ; LORENZINI CAMPOS, MN; ZAPATA, PEDRO DARÍO

Rosario

Congreso; L Congreso SAIB 2014; 2014

SAIB

Integrins are heterodimers consisting of an alpha (a) and a beta subunit (ß), which are involved in cell essential tasks such as: attachment, migration, proliferation and cell growth. The ß4 subunit is encoded by ITGB4 gene and beside a6 subunit form the a6ß4 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 inan amino acid change at position 1281 of the ß4 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 arequirement 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 reactionrestriction 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