Retrospective Analysis of Breast Cancer Patient Data for Identification of Candidates for BRCA Mutation Detection

Introduction: Breast cancer is the leading type of cancer affecting women, with an increasing trend of mortality, and a lifetime risk of more than 10%. There are cases of inherited predisposition, which is mostly caused by mutations of the tumor suppressor genes BRCA1 and BRCA2. The objective of this retrospective study is to identify presumptive candidates for BRCA1 mutation carriers using available clinical, histopathological and immunohistochemical data.
Material and method: We processed the available recorded data of 1334 patients diagnosed with breast cancer between the years 2005 and 2010 from the archives of the Pathology Department of the Clinical County Hospital Tg.-Mures. We considered age under 45, histopathological characterization and available immunohistochemical information.
Results: The main selection criteria (age below or equal to 45 years) excluded the majority from further analysis, while 188 cases (12.35%) remained. After performing distribution into histopathological type groups, we looked at the immunohistochemical data. We obtained 19 ER-/PR- negative cases without Her2/neu information, and only 12 cases could be proven to be triple negative, and thus to be considered as primary candidates for BRCA mutation screening.
Conclusions: We identified a very small number of presumptive BRCA mutation carrier candidates. This is due mostly to the fact that the information available comprised macroscopic and classical histopathological data. Immunohistochemical characterization is not widespread, but this shortcoming will be circumvented by prospective reprocessing of the archived biological materials, in order to characterize the BRCA mutation patterns of our population.