Fig. 1

Family history criteria for hereditary cancer syndromes applied to CHIS 2005 data. Our family history criteria for HBOC were adapted from the U.S. Preventive Services Task Force criteria4; however, we could not assess a history of a first-degree relative with bilateral breast cancer or the criteria specific for Ashkenazi Jewish ancestry. Our family history criteria for hereditary nonpolyposis colorectal cancer (HNPCC) were adapted from the Amsterdam II criteria11 and revised Bethesda guidelines.12,13 The revised Bethesda criteria are used to determine which individuals with colon cancer should undergo testing of their tumor for microsatellite instability. An adaptation of these criteria was used to identify family histories that suggested the possible diagnosis of HNPCC. We assessed family history of colorectal and endometrial cancer. We did not assess family history of other HNPCC-associated cancers that could fulfill the Amsterdam II criteria (small bowel, ureter, and renal pelvis cancers) or the revised Bethesda guidelines (gastric, ovarian, pancreas, ureter, renal pelvis, biliary tract, small bowel and brain tumors, sebaceous gland adenomas, and keratoacanthomas). In addition, we could not satisfy two Amersterdam II criteria including the exclusion of familial adenomatous polyposis as a diagnosis or verification of the cancer history by pathologic examination, and we could not satisfy the revised Bethesda guidelines addressing histology of colorectal cancer or the history of synchronous colorectal cancer.