Abstract for presentation at 11th International Congress of Human Genetics

BORIS Transcripción in Fibrocystic Mastopathy: A Case Report

  • Brissia Lazalde, Faculty of Medicine, Universidad Juárez del Estado de Durango, Mexico
  • Dr José Talamas-Marques, Faculty of Medicine, Universidad Juárez del Estado de Durango, Mexico
  • Dr Teodoro Gurrola-Morales, Faculty of Medicine, Universidad Juárez del Estado de Durango, Mexico
  • MD, PhD Miguel Reyes, Faculty of Medicine, Universidad Juárez del Estado de Durango, Mexico

    • Background: BORIS is a gene expresed only in testis, it is located in a region associated to cancer at 20q13.2. Abnormal BORIS expression has been observed in breast cancer derived cell lines. It is not known if BORIS is expressed in breast precursor lesions. Women with benign breast disease have a 1.27 to 4.24-fold increase in risk for developing breast cancer, being higher for proliferative or atypical lesions, therefore molecular markers that allow the identification of women at higher risk are required.
    Purpose: The aim of this work was to study BORIS transcription in cultured cells derived from a breast biopsy with histological diagnostic of fibrocystic mastopathy.
    Methods: A primary culture was derived from an breast biopsy from a 46 years old woman. The histological result of the biopsed material was fibrocystic mastopathy without proliferation or atypia. Confluent primary cultures were established from the breast biopsy and used as source of total RNA, which was isolated with TRI REAGENT™; BORIS transcription was studied by RT-PCR using the One Step SuperScript II™ RT-PCR kit using published primers (Loukinov et al., Proc. Natl. Acad. Sci. U S A. 14:6806-6811. 2002). Amplification products were analyzed by electrophoresis in agarose gels Et-Br stained.
    Results: BORIS transcription was clearly detected in gels as a specific product of amplification of 273 pair bases.
    Discussion: To date BORIS transcription has been depicted only in cancer. In this case report, BORIS transcription was detected in primary culture derived from fibrocystic non-proliferative breast tissue, this expression could be linked to incipient molecular changes that could lead to the development of cancer. Nonetheless it is necessary to study more cases to evaluate the potential usefulness of BORIS detection as an early cancer risk biomarker. Because this is a potential preventive intervention point, further studies in this issue are warranted.

    Conference Organiser - ICMS Pty Ltd