遺伝症候群と遺伝子治療のジャーナル
オープンアクセス

概要

The Role of Genetic Instability in Familial Cancer Syndromes

Economopoulou P, Mountzios G, Kotsantis I and Kentepozidis N

Familial cancer syndromes have been model diseases in order to understand the mechanisms and process of
neoplastic transformation in a number of solid tumors, including colorectal, breast, ovarian, gastric and others. Basic
experimentation in hereditary cancer genetics has been interpolated into important hypotheses about carcinogenesis
in humans. Overtime, evolution of molecular genetics and clarification of the functional structure of the human
genome has led to the identification of familial cancer-causing germline mutations. At present, approximately 100
genes (corresponding to 0.5% of all genes in the human genome) exhibit mutations with low or high penetration,
which underlie hereditary cancer syndromes. Furthermore, sequencing of complete cancer genomes across a wide
range of human tumors has shown that common human cancers possess numerous somatic mutations in their
genomes that might contribute to the neoplastic process. This review discusses the role of genomic instability in
tumorigenesis through the model of familial cancer syndromes and their potential implications in the clinic.