title: Inherited cancer predisposition syndromes in Greece.
abstract: 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.
authors.affiliation: Department of Molecular Biology, HYGELA SA, Athens, Greece.
authors.forename: Angela
authors.initials: A
authors.lastname: Apessos
authors.forename: Eirini
authors.initials: E
authors.lastname: Papadopoulou
authors.forename: Ioulia
authors.initials: I
authors.lastname: Belogianni
authors.forename: Sotiris
authors.initials: S
authors.lastname: Baratsis
authors.forename: John K
authors.initials: JK
authors.lastname: Triantafillidis
authors.forename: Paris
authors.initials: P
authors.lastname: Kosmidis
authors.forename: Eirini
authors.initials: E
authors.lastname: Karydas
authors.forename: Evangelos
authors.initials: E
authors.lastname: Briasoulis
authors.forename: Christos
authors.initials: C
authors.lastname: Pisiotis
authors.forename: Kostas
authors.initials: K
authors.lastname: Papazisis
authors.forename: George
authors.initials: G
authors.lastname: Nasioulas
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D011125:Adenomatous Polyposis Coli / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006115:Greece; D006801:Humans; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein