Inherited cancer predisposition syndromes in Greece.
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.
Apessos
Angela
A
Department of Molecular Biology, HYGELA SA, Athens, Greece.
Papadopoulou
Eirini
E
Belogianni
Ioulia
I
Baratsis
Sotiris
S
Triantafillidis
John K
JK
Kosmidis
Paris
P
Karydas
Eirini
E
Briasoulis
Evangelos
E
Pisiotis
Christos
C
Papazisis
Kostas
K
Nasioulas
George
G
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
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