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Nuclear Pedigree Criteria for the Identification of Individuals Suspected to Be at Risk of an Inherited Predisposition to Gastric Cancer
Authors:Beata Gawdis-Wojnarska  Marek Brzosko  Jacek Fliciński  Krzysztof Marlicz  Teresa Starzyńska  Rodney J Scott  Jan Lubiński
Affiliation:1.International Hereditary Cancer Center,Pomeranian Medical University,Szczecin,Poland;2.Clinic of Rheumatology,Pomeranian Medical University,Szczecin,Poland;3.Clinical Gastroenterology,Pomeranian Medical University,Szczecin,Poland;4.Discipline of Medical Genetics, School of Biomedical Sciences,University of Newcastle and the Hunter Medical Research Institute,Australia
Abstract:
Gastric cancer is the second most frequently diagnosed malignancy worldwide and therefore represents a significant healthcare burden. Environmental and genetic factors are involved in the development of gastric cancer. To date only one clear genetic predisposition has been identified involving mutations in the E-cadherin gene. The disease phenotype in patients harbouring E-cadherin mutations appears to be specifically related to diffuse gastric cancer. Little is known genetically about the other forms of gastric cancer. Since there is a growing awareness about the necessity of early intervention criteria have been developed that aid the identification of hereditary forms of gastric cancer. The aim of the current study was to identify minimal inclusion criteria so that nuclear pedigree families can be provided with risk assessment and/or genetic testing.The results reveal that inclusion features described herein such as (a) gastric cancer diagnosed before 46 years of age; (b) two gastric cancers among first degree relatives diagnosed over the age of 50 are useful in identifying suspected hereditary gastric cancer patients.
Keywords:hereditary gastric cancer   diagnostic criteria   nuclear families
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