Inherited genetic abnormalities have a significant pathogenetic role in several common adult cancers. These include germline abnormalities in numerous genes including e-cadherin, BRCA1 and 2, wnt pathway, mismatch repair genes, and SMAD. Predictive genetic testing for these hereditary predispositions is now available and moving rapidly into widespread clinical practice.

The advent of such predictive genetic testing poses new challenges for the histopathologist: What are the accepted indications for genetic assessment? Are there tumor types which should prompt recommendations for genetic assessment or testing? Are there immunohistochemical methods available to screen or diagnose inherited abnormalities? How does one examine biopsies or surgical pathology specimens from prophylactic surgeries? In this course, these questions are addressed for three body sites breast, gastrointestinal, and gynecologic. The specific syndromes will include hereditary gastric carcinoma, hereditary non-polyposis colon cancer, familial colonic adenomatosis, Peutz-Jeghers syndrome and familial breast and gynecologic cancers.

Following this course participants should be able: 1) to provide an insight into the molecular pathways and interactions of the proteins involved in these hereditary human cancer syndromes, 2) to discuss the distinct morphologic and immunophenotypes of hereditary ovarian, breast, and gastro-intestinal cancers, and the role of immunohistochemistry in their diagnosis, 3) to appreciate the implications of these diagnoses in prognosis and management, and in prompting genetic assessment, 4) to understand where appropriate, the role of the histopathologist in the surveillance of individuals with known genetic predisposition to cancer, 5) to appreciate the role of the histopathologist in assessing prophylactic surgical resection specimens

The format of this course will be primarily didactic following the circulation of illustrative cases using CD ROM. The cases and discussion will stress how biopsies and resections from these patients differ from standard handling practices. A comprehensive syllabus and CD- ROM will be provided to all attendees.