[Validation of a 4-Item-Questionnaire on Familial and Hereditary Colorectal Cancer Risk in General Practice]

Area of Science:

• Oncology
• General Practice
• Genetics

Background:

• A 4-item questionnaire was developed by the Network against colorectal cancer to detect familial or hereditary susceptibility to colorectal cancer.
• The study aimed to validate this questionnaire in individuals aged 40 to 54 within a general practice setting.

Purpose of the Study:

• To validate a 4-item questionnaire for identifying familial and hereditary colorectal cancer risk.
• To assess the questionnaire's utility in a general practice setting for individuals aged 40-54.

Main Methods:

• Four general practices recruited 100 index patients.
• General practitioners created pedigrees based on questionnaire items.
• Index patients were surveyed, and agreement with practitioners' responses was measured using Cohen's kappa coefficient.

Main Results:

• High agreement (kappa=0.82) was observed for identifying first-degree relatives with colorectal cancer.
• Questions regarding early-onset colorectal cancer or polyps in relatives could not be validated due to data limitations.
• 18.8% of patients screened positive for potential hereditary colorectal cancer risk based on at least one question.

Conclusions:

• The first question of the questionnaire is effective for identifying familial colorectal cancer risk in the target population.
• Questions 2-4 were not validated due to methodological limitations.
• Further detailed family history taking is recommended for individuals aged 40-54 to identify hereditary risk more comprehensively.