Pathologists are well-positioned to recognize patients with possible familial cancer syndromes and can alert the treating physicians of this possibility. Recognition of familial cancer syndromes is crucial in implementing cancer prevention programs at a younger age in affected patients and their siblings and children. Thus, pathologists can potentially play a very important role in cancer prevention. It is therefore the goal of this proposed short course to provide the educational framework to understand and recognize the distinguishing pathological and molecular features of hereditary cancers of the colon, uterus, ovaries, breast, and skin. Genetic testing for hereditary cancers is expensive. Recognition of the pathological features of hereditary cancers by pathologists can help to provide a more rational framework for the improved selection of patients for appropriate genetic testing.

This course is directed to pathologists in general practice, pathologists in academic practice, and pathology trainees. The course will be composed of a series of didactic lectures and case presentations that will provide the framework for learning the pathological features of certain hereditary cancers. Included in the discussions will be the laboratory techniques, including immunohistochemistry and molecular diagnostics, available to pathologists to evaluate cases suspected to be related to a hereditary syndrome.

The major educational objectives for this course include the following: 1) Understand pathology and molecular genetics of the various hereditary polyp syndromes that predispose to colon cancer, such as FAP, Juvenile Polyposis, and Hyperplastic Polyposis. 2) Recognize the pathological features characteristic of HNPCC-associated colon cancer. 3) Recognize the pathological features of BRCA-associated breast cancer and how they differ from sporadic breast cancer. 4) Learn which pathological features of breast cancer may be used to help select patients for BRCA testing. 5) Learn the pathological features of endometrial cancer associated with HNPCC. 6) Understand the relationship of BRCA mutation and cancers of the ovary/fallopian tube. 7) Learn the principles of the gross and microscopic examination of fallopian tubes and ovaries from women with BRCA mutations as well as women in the general population. 8) Understand the "p53 signature" associated with BRCA mutation and fallopian tube neoplasms. 9) Understand the molecular genetics and the pathological features of skin lesions associated with Neurofibromatosis, Familial Melanoma (Dysplastic Nevus Syndrome), Cowden's Syndrome, and Muir-Torre Syndrome. 10) Understand the molecular diagnostic testing paradigms (immunohistochemistry, microsatellite instability analysis, MLH1 methylation analysis, BRAF mutation analysis) used in the diagnostic work-up of the young patient with colon cancer, endometrial cancer, ovarian cancer, or skin cancer.

(New Course) This course may be used for CME credits or SAM's credits.