Etiology and Pathogenesis > Hereditary Tumor Syndromes

Abstract

Birch JM

University of Manchester, CRC Paediatric and Familial Cancer Research Group, Christie Hospital NHS Trust, UK

The study of rare families in which a variety of cancers occur, usually at an early age and with patterns consistent with a common hereditary mechanism, has contributed much to our understanding of the process of carcinogenesis. 
So far, genes identified as having a role in cancer predisposition in these families have also been important in the histogenesis of sporadic cancers. 
In the two most clearly defined cancer family syndromes, the Li-Fraumeni syndrome and Lynch syndrome II, the genes involved predispose to diverse but specific constellations of cancers. 
Genes associated with site-specific familial cancer clusters may also give rise to increased susceptibility to other cancers, and site-specific clusters may represent one end of a spectrum. 
A consistent feature of familial cancer syndromes is the variable expression within and between families. 
A challenge for the future will be to determine other factors which may interact with the principal genes involved, giving rise to this variability.

PMID: 7987644 [PubMed - indexed for MEDLINE]