[Evaluation of cancer risk through genetic analysis?]

The recent literature of familial cancer, specifically related to germline mutations of RB1, p53, NF1, ATM, BRCA1, Mismatch repair genes and APC is reviewed.

Germline mutations do not relate to an increased tumor risk of any single tissue, but instead to spectra of neoplastic diseases. The genetic background plays a major role in modifying the cancer risk. Therefore, mass screening for mutations of single genes seems to be without practical value. Only in combination with an adequate and informative family history can molecular genetic analysis significantly support the care for the individual. Comparison of the data of patients inheriting germline mutations and the experience from the corresponding "knockout" mouse demonstrate that only the p53 and APC knockout mice are useful models of human disease.