How can we decrease the risk of colorectal carcinoma in the general population with pedigree analyses

Morbidity and mortality of colorectal cancer (CRC) is extremely high in Hungary, ranked on the second place in both gender.

General population screening for CRC is not resolved yet in Hungary, therefore special attention should be attracted to the two main groups of high risk carriers: on the one hand sporadic CRC cases with familiar accummulation with a relative risk (RR) of 1.5–2.25, and the group of genetically determined cancer syndromes with an RR of 4.25–50.

Family report: the pitfalls of clinical evaluation regarding different relative risks affecting members of the same family will be demonstrated in a detailed pedigree of a hereditary non-polyposis colorectal cancer family (HNPCC) fitting the Bethesda criteria. The propositus was a female patient operated upon metachronous CRC in 37 and 56 years of age, respectively. MMR genetic disorder inherited in an autosomal dominant manner may be rendered probable on the mother's side. Most of her children were screened and systematically surveilled by colonoscopy, but a 40-yrs old son and the father presented themselves by us already with definitive hematochezia. Examinations revealed colonic adenomatous polyposis, and the detailed analysis of the pedigree from father's side discovered a death due CRC in a first degree relative. This theoretical evaluation made the CRC RR changed, particularly in father'side relatives, genetic approach is in progress.

The aim of this presentation was to call the attention on the importance of family history in CRC patients: until a general screening examination for CRC in whole population could be introduced, the most important and practically simplest step leading to the diagnosis of increased CRC risk is the compilation of a thorough family history of cancer.