Hereditary Breast Cancer: Mutations within BRCA1 and BRCA2 with Phenotypic Responses
Annual rept. 1 Jul 1998-30 Jun 1999
CREIGHTON UNIV OMAHA NE
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We have, to date, 57 Hereditary BreastOvarian Cancer families with an identified BRCA1 or BRCA2 genetic mutation, wherein about 107 breast cancer patients slides and tissue blocks have been retrieved together with medical histories, pedigree relationships, survival data, and 115 completed risk factor questionnaires. Previous findings have shown that BRCA1-related and other HBC patients presented at lower stage p 0.003 and at an earlier age than non-HBC patients mean, 42.8 years and 47.1 years vs. 62.0 years, p 0.0001. Basic pathology findings indicated that when compared with non-HBC, invasive BRCA1-related HBC had a statistically significantly lower diploidy rate, a lower mean aneuploid DNA index, and a strikingly higher proliferation rate. Among aneuploid tumors, S-phase fraction were higher in the BRCA1 mutation carriers. BRCA2 patients had more tubular-lobular group carcinomas OR 2.56, p 0.007. All these findings were independent of age. We are now in the process of collecting, for examination, environmental and known endogenous risk factors, which will be compared with a control group employing multiple regression analysis. Knowledge from this research will have a significant translational impact upon more common sporadic reoccurring breast cancer. Long-term, this may even impact upon DNA-targeted chemotherapy.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research