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Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management Lynch HT; Riley BD; Weissman SM; Coronel SM; Kinarsky Y; Lynch JF; Shaw TG; Rubinstein WSCancer 2004[Jan]; 100 (1): 53-64BACKGROUND: To the authors' knowledge, hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most commonly occurring hereditary disorder that predisposes to colorectal carcinoma (CRC), accounting for approximately 2-7% of all CRC cases diagnosed in the U.S each year. Its diagnosis is wholly dependent on a meticulously obtained family history of cancer of all anatomic sites, with particular attention to the pattern of cancer distribution within the family. METHODS: The objective of the current study was to illustrate various vexing problems that can deter the diagnosis of HNPCC and, ultimately, its management. This was an observational cohort study. Sixteen HNPCC and HNPCC-like families were selected from a large resource of highly extended HNPCC families. High-risk patients were selected from these HNPCC families. An ascertainment bias was imposed by the lack of a population-based data set. Personal interviews and questionnaires were used for data collection. RESULTS: There was an array of difficulties highlighted by limitations in compliance, lack of a clinical or molecular basis for an HNPCC diagnosis, ambiguous DNA findings, problems in genetic counseling, failure to meet Amsterdam or Bethesda criteria, small families, lack of medical and pathologic documentation, poor cooperation of family members and/or their physicians, cultural barriers, economic stress, frequent patient fear and anxiety, perception of insurance discrimination, and limited patient and/or physician knowledge regarding hereditary cancer. CONCLUSIONS: The diagnosis and management of HNPCC is predicated on physician knowledge of its phenotypic and genotypic heterogeneity, in concert with the multifaceted problems that impact on patient compliance.|*Diagnostic Errors[MESH]|*Genetic Testing[MESH]|*Guideline Adherence[MESH]|Adult[MESH]|Aged[MESH]|Aged, 80 and over[MESH]|Anxiety[MESH]|Cohort Studies[MESH]|Colorectal Neoplasms, Hereditary Nonpolyposis/*diagnosis/genetics/*therapy[MESH]|Cultural Characteristics[MESH]|DNA, Neoplasm[MESH]|Diagnosis, Differential[MESH]|Family Health[MESH]|Female[MESH]|Genetic Counseling[MESH]|Genotype[MESH]|Health Knowledge, Attitudes, Practice[MESH]|Humans[MESH]|Male[MESH]|Middle Aged[MESH]|Patient Compliance[MESH]|Pedigree[MESH]|Phenotype[MESH]|Practice Patterns, Physicians'[MESH]|Risk Factors[MESH] |
