Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014 JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK Daly, M. B., Pilarski, R., Axilbund, J. E., Buys, S. S., Crawford, B., Friedman, S., Garber, J. E., Horton, C., Kaklamani, V., Klein, C., Kohlmann, W., Kurian, A., Litton, J., Madlensky, L., Marcom, P. K., Merajver, S. D., Offit, K., Pal, T., Pasche, B., Reiser, G., Shannon, K. M., Swisher, E., Voian, N. C., Weitzel, J. N., Whelan, A., Wiesner, G. L., Dwyer, M. A., Kumar, R. 2014; 12 (9): 1326-1338


During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations. This portion of the NCCN Guidelines includes recommendations regarding diagnostic criteria and management of patients with Cowden Syndrome/PTEN hamartoma tumor syndrome.

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