SCREENING FOR AKT1 (E17K) MUTATION IN BREAST CARCINOMAS AND CONTROL SAMPLES

ACOSTA, KARINA BEATRIZ; GONZALEZ GIMENEZ, CARMEN; ZAPATA, PEDRO DARÍO

Rosario

Congreso; L Congreso SAIB 2014; 2014

SAIB

AKT (also known as protein kinase B) is a subfamily of serine/threonine protein kinases and is a major downstream target of growth factor receptors that signal through phosphatidylinositol 3- kinase. Remarkable increase in the Aktkinase activity has been found in approximately 30% to 40% of breast cancer specimens. Recently, a somatic mutation in the PH domain of AKT1 was identified in a subset of human carcinomas, including breast cancer. Thismutation results in the substitution of glutamic acid at codon 17 of AKT1 with lysine (E17K) and alters the lipidbinding specificity of AKT, leading to pathological membrane association and constitutive signaling. The aim ofthis work was to screen AKT1 (E17K) mutation in 29 breast carcinomas and 52 control samples from Posadas, Misiones. Blood samples were collected and DNA was extracted by Salting out method. DNA extractions were amplified by polymerase chain reaction (PCR), using the primers previously described in the literature. We performed mutation analysis by direct sequencing of PCR products. The sequencing analysis for exon 3 of the human AKT1 gene in all breast carcinomas and control samples revealed the absence of the point mutation G>A atnucleotide 49 (E17K). Although we did not find the mutation, this could be due to the size limitations of our study.