Familial cancer syndromes and clusters.
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.
Birch
J M
JM
University of Manchester, CRC Paediatric and Familial Cancer Research Group, Christie Hospital NHS Trust, UK.
D001478:Basal Cell Nevus Syndrome / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics; D008297:Male; D009369:Neoplasms / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics; D009857:Oncogenes; D010375:Pedigree; D006623:von Hippel-Lindau Disease / Q000235:genetics