Distinct genetic and epigenetic changes in medullary breast cancer

Osin, P., Lu, Y., Stone, J., Crook, T., Houlston, R., Gasco, M., Gusterson, B. and Shipley, J. (2003) Distinct genetic and epigenetic changes in medullary breast cancer. International Journal of Surgical Pathology, 11(3), pp. 153-158. (doi: 10.1177/106689690301100301)

Abstract

Genetic instability resulting in chromosome aneuploidy or mismatch repair deficiency characterizes cancer. Medullary carcinoma (MC) of the breast is a specific form of breast cancer with unique clinical, epidemiologic, and prognostic features, suggesting distinctive tumorigenic pathways. To investigate the nature of the genetic changes associated with MC we analyzed a series of 22 tumors. Chromosomal imbalances were assessed by comparative genomic hybridization (CGH) and mismatch repair (MMR) deficiency tested for through assessment of microsatellite instability (MSI) and expression of MLH1 and MSH2 genes. MMR deficiency was detected in only a small proportion of cases. The chromosomal copy number changes showed some similarities to BRCA1-associated tumors. A high level of BRCA1 promoter hypermethylation was detected, suggesting a possible role of this gene in MC developmen

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Gusterson, Professor Barry
• Authors: Osin, P., Lu, Y., Stone, J., Crook, T., Houlston, R., Gasco, M., Gusterson, B., and Shipley, J.
• College/School: College of Medical Veterinary and Life Sciences > School of Cancer Sciences
• Journal Name: International Journal of Surgical Pathology
• ISSN: 1066-8969