Family history is neglected in the work-up of patients with colorectal cancer: a quality assessment using cancer registry data

Fam Cancer. 2007;6(1):131-4. doi: 10.1007/s10689-006-9114-8.


In the diagnostic work-up of hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome), high-risk patients can be identified using information from the family history on cancer ('Amsterdam criteria' and 'Bethesda guidelines'). To investigate to what extent the medical specialists apply these criteria to patients with colorectal carcinoma and a suspicion of HNPCC, we collected information on diagnostic work-up of 224 patients of seven hospitals in the region of the Comprehensive Cancer Centre West in Leiden, The Netherlands. These patients were diagnosed with colorectal cancer between 1999 and 2001 and satisfied at least one of the Bethesda guidelines. A complete family history was recorded for 38 of the 244 patients (16%). Patients with a complete family history were more likely to be referred to the Clinical Genetic Centre than those with an incomplete or absent family history (53% vs. 13% and 4%, respectively; P < 0.0001), and more likely to be analyzed for microsatellite instability (MSI), which is a characteristic of HNPCC (34% vs. 6% and 1%, respectively; P < 0.0001). We conclude that the family history is neglected in the majority of patients with colorectal cancer and MSI-analysis is only performed in a small proportion of the patients that meet the guidelines for this analysis.

Publication types

  • Evaluation Study

MeSH terms

  • Aged
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Documentation / standards
  • Documentation / statistics & numerical data*
  • Family Health
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing / standards
  • Genetic Testing / statistics & numerical data*
  • Guideline Adherence / standards
  • Guideline Adherence / statistics & numerical data*
  • Humans
  • Male
  • Medical History Taking / standards
  • Microsatellite Instability
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Mutation / genetics
  • Netherlands / epidemiology
  • Pedigree
  • Practice Guidelines as Topic / standards
  • Quality Assurance, Health Care / standards
  • Quality Assurance, Health Care / statistics & numerical data*
  • Registries*