Familial aggregation of carcinoma of the endometrium

OBJECTIVE: Our purpose was to describe histologically verified endometrial carcinoma and other cancer types manifested through three generations in a pedigree, where these findings do not fit any classic hereditary cancer syndrome. STUDY DESIGN: Our family study protocol used, detailed patient interviews whenever possible and questionnaires with permission forms that, when signed, enabled retrieval of pertinent medical-genetic and pathologic, study documents. RESULTS: Endometrial carcinoma was histologically verified in five women through three consecutive generations. The triad of obesity, hypertension, and diabetes mellitus was not observed. Primary carcinomas of both the endometrium and ovary and endometrium and lymphoma were documented in two relatives in the direct genetic lineage of the pedigree. CONCLUSION: An aggregation of endometrial carcinoma in families, even when classic hereditary cancer syndrome identification is lacking, nevertheless merits surveillance and management strategies targeted to putative-high-risk family members.