Inherited cancer predisposition syndromes in Greece
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Date
Authors
Apessos, A.
Papadopoulou, E.
Belogianni, I.
Baratsis, S.
Triantafillidis, J. K.
Kosmidis, P.
Karydas, E.
Briasoulis, E.
Pisiotis, C.
Papazisis, K.
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Abstract
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peer-reviewed
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Anticancer Res
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Description
Hereditary cancer syndromes comprise approximately 5-10% of diagnosed carcinomas. They are caused by mutations in specific genes. Carriers of mutations in these genes are at an increased risk of developing cancer at a young age. When there is a suspicion of a hereditary cancer predisposition syndrome a detailed family tree of the patient requesting screening is constructed. DNA is isolated from all available members of the family. Mutation detection is carried out on DNA from an affected family member. If a mutation is found the remaining family is screened. The genetic basis of a large number of inherited cancer predisposition syndromes is known. In this paper the focus is on mutations in genes responsible for colorectal cancer, meaning adenomatous polyposis coli (APC), which is involved in familial adenomatous polyposis and homo sapiens mutL homolog 1 (hMLH1) and homo sapiens mutS homolog 2 (hMSH2), involved in hereditary non-polyposis colorectal cancer. In addition, the genes responsible for inherited breast and/or ovarian cancer, breast cancer genes 1 and 2 (BRCA1 and BRCA2), and the rearranged during transfection protooncogene RET which is responsible for multiple endocrine neoplasia type 2 are discussed. In all cases emphasis is given to the data available on the Greek population.
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Keywords
Adaptor Proteins, Signal Transducing/genetics, Adenomatous Polyposis Coli/genetics, Breast Neoplasms/*genetics, Colorectal Neoplasms/*genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Greece, Humans, MutS Homolog 2 Protein/genetics, Mutation, Nuclear Proteins/genetics, Pedigree
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http://www.ncbi.nlm.nih.gov/pubmed/18505076
Language
en
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Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής