Amplification and deletion of the RAPH1 gene in breast cancer patients

• Published in: Molecular biology reports Vol. 40; no. 12; pp. 6613 - 6617
• Main Authors: Batistela, Meire S., Boberg, Dellyana R., Andrade, Fabiana A., Pecharki, Michelli, de S. F. Ribeiro, Enilze M., Cavalli, Iglenir J., Lima, Rubens S., Urban, Cícero A., Furtado-Alle, Lupe, Souza, Ricardo L. R.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01-12-2013; Springer Nature B.V
• Subjects: Animal Anatomy; Animal Biochemistry; Biomedical and Life Sciences; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Carrier Proteins - genetics; Female; Gene Amplification; Gene Deletion; Histology; Humans; Life Sciences; Membrane Proteins - genetics; Middle Aged; Molecular biology; Morphology; Polymerase chain reaction; Proteins; Tumors; Lamellipodin; Genic amplification and deletion; Breast cancer; Real time PCR; gene
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-013-2774-1

Lamellipodin protein (Lpd), encoded by the
RAPH1
gene, modulates the assembly of actin cytoskeleton through its binding to the Ena/VASPs proteins, and acts in cellular motility and lamelipodial protrusion. The region where
RAPH1
gene is located (2q33) is deleted in various types of cancer and the gene expression changes in tumors when compared to normal tissues. Amplifications and deletions of the
RAPH1
gene were investigated in breast carcinoma samples, in order to determine the possible relationship of the gene with breast cancer tumorigenesis and lymph node metastasis.
RAPH1
gene alterations were determined by relative quantification, standard curve method using Real-time PCR technique in samples of tumor and peripheral blood from 52 patients. Regression and correlation analyses were conducted using gene alterations and clinicopathological data. All samples analyzed were altered, with 63.5 % deletion cases and 36.5 % amplification cases. The logistic regression and correlation analysis with clinicopathological data did not show significant results. The results suggest that although the
RAPH1
gene was deleted or amplified in all samples, the Lpd does not seem to play a major role in tumorigenesis of mammary carcinomas and probably other proteins, also involved in the process of cellular motility and metastasis, are acting more effectively for or against the migration of breast tumor cells.