Clinical Application of Genetic Diagnosis of Breast Cancer

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Summary of our research intended for clinical application of genetic diagnosis of breast cancer is described below : (1) Differential diagnosis of benign and malignant breast tumors by FISH : FISH diagnosis of fine needle aspiration biopsy samples from breast tumors has a diagnostic accuracy comparable to conventional cytology and is useful in making a definitive deagnosis of malignancy in cases with indeterminate and benign cytological results. (2) Diagnosis of prognosis : Bone marrow micrometastases detected by a real-time RT-PCR assay of CK19 or mammaglobin mRNA can serve as a significant prognostic factor being independent of the other conventional prognostic factors. In addition, we have also found that high expression of BRCA2 mRNA or wt-1 mRNA in tumor rtissues is significantly associated with poor prognosis. (3) Genetic diagnosis of familial breast cancer : Fifteen BRCA1 (13.3%) and 21 BRCA2 (18.6%) mutations were identified in 113 Japanese breast cancer families. BRCA1 associated-tumors have been found to have biologically aggressive phenotypes and to show a poorer prognosis as compared with sporadic breast tumors. (4) Genetic polymorphism and breast cancer risk : A significant increase in breast cancer risk (odds ratio = 1.56, P = 0.028) was observed in CYP17^<1931C/C> homozygotes as compared with CYP17^<1931T/C> heterozygotes and CYP17^<1931T/T> homozygotes. Homozygous carriers of the allele with 10 or more TTTA repeats at intron 4 of CYP19 showed a trend toward an increase (OR = 1.80, 95%C.i. = 0.97-3.36) in breast cancer risk.