Inherited cancer predisposition syndromes in Greece

dc.contributor.authorApessos, A.en
dc.contributor.authorPapadopoulou, E.en
dc.contributor.authorBelogianni, I.en
dc.contributor.authorBaratsis, S.en
dc.contributor.authorTriantafillidis, J. K.en
dc.contributor.authorKosmidis, P.en
dc.contributor.authorKarydas, E.en
dc.contributor.authorBriasoulis, E.en
dc.contributor.authorPisiotis, C.en
dc.contributor.authorPapazisis, K.en
dc.contributor.authorNasioulas, G.en
dc.date.accessioned2015-11-24T19:09:54Z
dc.date.available2015-11-24T19:09:54Z
dc.identifier.issn0250-7005-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/20762
dc.rightsDefault Licence-
dc.subjectAdaptor Proteins, Signal Transducing/geneticsen
dc.subjectAdenomatous Polyposis Coli/geneticsen
dc.subjectBreast Neoplasms/*geneticsen
dc.subjectColorectal Neoplasms/*geneticsen
dc.subjectColorectal Neoplasms, Hereditary Nonpolyposis/geneticsen
dc.subjectGenes, BRCA1en
dc.subjectGenes, BRCA2en
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGreeceen
dc.subjectHumansen
dc.subjectMutS Homolog 2 Protein/geneticsen
dc.subjectMutationen
dc.subjectNuclear Proteins/geneticsen
dc.subjectPedigreeen
dc.titleInherited cancer predisposition syndromes in Greeceen
heal.abstractHereditary 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.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/18505076-
heal.journalNameAnticancer Resen
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2008-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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