@prefix prodottidellaricerca: . @prefix istituto: . @prefix prodotto: . istituto:CDS040 prodottidellaricerca:prodotto prodotto:ID215270 . @prefix pubblicazioni: . @prefix unitaDiPersonaleInterno: . unitaDiPersonaleInterno:MATRICOLA325 pubblicazioni:autoreCNRDi prodotto:ID215270 . unitaDiPersonaleInterno:MATRICOLA6500 pubblicazioni:autoreCNRDi prodotto:ID215270 . @prefix modulo: . modulo:ID2515 prodottidellaricerca:prodotto prodotto:ID215270 . @prefix rdf: . prodotto:ID215270 rdf:type prodotto:TIPO1302 . @prefix retescientifica: . prodotto:ID215270 rdf:type retescientifica:ProdottoDellaRicerca . @prefix rdfs: . prodotto:ID215270 rdfs:label "Proneness to cancer in Italian Ataxia Telangiectasia (AT) families. (Abstract/Poster in atti di convegno)"@en . @prefix xsd: . prodotto:ID215270 pubblicazioni:anno "1997-01-01T00:00:00+01:00"^^xsd:gYear . @prefix skos: . prodotto:ID215270 skos:altLabel "
Zei G, Lisa A, Fiorani O, Savio C, Arcuri M, Prudente S, Chessa L. (1997)
Proneness to cancer in Italian Ataxia Telangiectasia (AT) families.
in International Biometric Society - Regione Italiana, Pavia, 22-24 Settembre 1997
"^^rdf:HTML ; pubblicazioni:autori "Zei G, Lisa A, Fiorani O, Savio C, Arcuri M, Prudente S, Chessa L."^^xsd:string ; pubblicazioni:paginaInizio "133"^^xsd:string ; pubblicazioni:paginaFine "134"^^xsd:string ; pubblicazioni:titoloVolume "Proceedings of the International Biometric Society - Regione Italiana"^^xsd:string ; skos:note "Poster"^^xsd:string ; pubblicazioni:affiliazioni "Department of Experimental Medicine, Section of Genetic Metabolic Diseases, University \\\"La Sapienza\\\", Roma, and IGM CNR, Pavia, Italy"^^xsd:string ; pubblicazioni:titolo "Proneness to cancer in Italian Ataxia Telangiectasia (AT) families."^^xsd:string ; prodottidellaricerca:abstract "Ataxia Telangiectasia (AT) is an autosomal recessive disease rare but not infrequent in Italy, spread off all the country. AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, chromosomal instability, radiosensitivity and high incidence of cancer, especially lymphomas and leukemias. The estimated incidence reported in the literature is about 1/40,000-1/100,000. AT heterozygotes (1-3% of the general population) were referred to show high proneness to cancer (two-threefold the general population; sixfold for breast cancer). In Italy a Registry for Ataxia Telangiectasia (RIAT) was set up in 1986 together with a Cell Repository. The RIAT data were computed on database to study the incidence of cancer in these families. One-hundred-one AT families have been identified to date. Previous epidemiologica! studies confirmed that AT patients died for lymphoma and leukemia, rarely for carcinoma or meningioma. The anamnestic data concerning 88 AT families show a high death rate from cancer. Using the maximum likelihood method we estimated the risk for a relative of an AT-homozygote to die from a malignant neoplasm to be 2.6 for males and 2.4 for females, compared with the age-specific mortality rales for the general population in the years 1969 to 1986, Breast, uterus and ovary were the most frequently occurring cancers in the women, gastric and lung cancers in the men. Proneness to cancer in AT families seems to be supported by these results. Nevertheless, until the identification of the AT gene, termed ATM, no possibility was done to correlate the epidemiologic data on cancer incidence with the heterozygosity for the gene, except for the parents. The molecular analysis of Italian AT families was performed by segregation analysis of the mutations using DNA and/or RNA from the lymphoblastoid cell lines of AT patients and their relatives in the RIAT Cell Repository. Until now 26 different mutations were recovered in 34 patients from 28 different families.The heterozygosity was confirmed in the parents, obligate heterozygotes. Twenty-three out of thirty-six relatives were shown to be heterozygous while thirteen resulted as wildtype but no significant difference in the incidence of cancer was observed between the two groups."@en ; prodottidellaricerca:prodottoDi modulo:ID2515 , istituto:CDS040 ; pubblicazioni:autoreCNR unitaDiPersonaleInterno:MATRICOLA325 , unitaDiPersonaleInterno:MATRICOLA6500 .