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Genetic Counseling & Risk Assessment

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

Advanced Reading

Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers
Brian Drohan, PhD, Constance A. Roche, MSN, RN, James C. Cusack Jr., MD, and Kevin S. Hughes, MD. Ann Surg Oncol. Volume. 19:6. p. 1732–1737, June 2012.

Provides estimates on the number of people in the US with a BRCA mutation and how many people have been tested.

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
Walsh, T., Casadei, S., Ming, L., Pennil, C., Nord, A., Thornton, A., Roeb, W. Agnew, K., Stray, S., Wickramanayake, A., Norquist, B., Pennington, K., Garcia, R., King, MC and Swisher, E. Proceedings of the National Academy of Sciences. Vol. 108: no. 44 p. 18032-18037. November 2011.

Application of Breast Cancer Risk Prediction Models in Clinical Practice
Susan M. Domchek, Andrea Eisen, Kathleen Calzone, Jill Stopfer, Anne Blackwood, Barbara L. Weber Journal of Clinical Oncology. Volume 21, Issue 4, p. 593-601, February, 2003.

Breast cancer risk assessment models
Melissa L. Bondy, Ph.D., Lisa A. Newman, M.D Cancer. Volume 97, Issue S1, p. 236-245, December 2002.

Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals
Thomas S. Frank, Amie M. Deffenbaugh, Julia E. Reid, Mark Hulick, Brian E. Ward, Beth Lingenfelter, Kathi L. Gumpper, Thomas Scholl, Sean V. Tavtigian, Dmitry R. Pruss, Gregory C. Critchfield. Journal of Clinical Oncology. Volume 20, Issue 6: p. 1480-1490, March 2002.

Limitations of the Gail Model in the Specialized Breast Cancer Risk Assessment Clinic
David M. Euhus, MD, A. Marilyn Leitch, MD, James F. Huth, MD, and George N. Peters, MD. The Breast Journal. Volume 8 Issue 1: p 23, January/February 2002.

Understanding Mathematical Models for Breast Cancer Risk Assessment and Counseling
David M. Euhus, MD. The Breast Journal. Volume 7, Issue 4: p. 224, July 2001. (A literature review)

The Effectiveness of the Gail Model in Estimating Risk for Development of Breast Cancer in Women Under 40 Years of Age
Gasan Mackarem, MD, Constance A. Roche, MSN, RN, CS, and Kevin S. Hughes, MD. The Breast Journal. Volume 7, Issue 1: p. 34-39, January 2001.

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