alexa The Role of Genetic Instability in Familial Cancer Synd
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

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Review Article

The Role of Genetic Instability in Familial Cancer Syndromes

Economopoulou P*, Mountzios G, Kotsantis I and Kentepozidis N

251 Airforce General Hospital, Department of Medical Oncology, Athens, Greece

*Corresponding Author:
Panagiota Economopoulou
251 Airforce General Hospital
Department of Medical Oncology, Athens, Greece
E-mail: [email protected]

Received date: July 29, 2013; Accepted date:August 09, 2013; Published date: August 09, 2013

Citation: Economopoulou P, Mountzios G, Kotsantis I, Kentepozidis N (2013) The Role of Genetic Instability in Familial Cancer Syndromes. J Genet Syndr Gene Ther 4:169. doi:10.4172/2157-7412.1000169

Copyright: © 2013 Economopoulou P, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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.


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