The Correlation Between Myriad Genetic Laboratories, Inc. Mutation Prevalence Table And Clinicopathological Characteristics Of Breast Cancer Patients In Okinawa

Introduction The two major susceptibility genes for breast cancer and ovarian cancer, BRCA1 andBRCA2 were discovered in 1994 and 1995, respectively. Various risk prediction algorithms and models have been developed to identify putative BRCA1/2 mutation carriers. Myriad Genetic Laboratories, Inc. released Mutation Prevalence Tables (http://www.myriad.com/lib/brac/brca-prevalence-tables.pdf#search = ‘Myriad+Genetic+Laboratories%2C+Inc.+Mutation+Prevalence+Table’) through its clinical testingservice. To the best of our knowledge, this is the first study to examine the correlation between this risk prediction model and clinicopathological characteristics of breast cancer patients. Methods The cases were 148 female breast cancer patients without any previous breast cancer history who initially visited Nahanishi Clinic Okinawa in Okinawa, Japan, between May 2012 and March 2013. The median ages were 55 years old (26-84). We examined the correlation between Myriad Genetic Laboratories, Inc. released Mutation Prevalence Tables and clinicopathological characteristics including age, ER, PgR, HER2, triple negative status, histological grade and Ki67. The presence of ER and PgR was determined by nuclear staining with positive cases defined as more than 1% staining according to ASCO CAP. With regard to HER2 evaluation, membranous staining was graded as 0-1+, 2+, and 3+. Samples scored as 2+ were subjected to FISH. Positivity was defined as a HER2:CEP17 signal ratio>2.2. Ki-67 labeling index was obtained by selecting the hot spots after evaluation at low power magnification and counting 1000 tumor cells in the hotspots. Results There was statistically negative correlation between the risk prediction rates and age (r = -0.480, r2 = 0.230, p Conclusion Previous studies demonstrated that BRCA1/2 mutation was associated with triple negative and high grade malignant breast cancer. However, the results of this study suggested that Myriad Genetic Laboratories, Inc. released Mutation Prevalence Tables was not associated with triple negative and/or high risk breast cancer patients in Okinawa. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P2-12-07.