Source:http://linkedlifedata.com/resource/pubmed/id/11410879
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2001-6-18
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pubmed:abstractText |
Epidemiological studies have suggested that ataxia-telangiectasia (AT) heterozygotes have a predisposition to cancer, especially breast cancer in women. Now, haplotyping can identify heterozygotes for AT mutation (ATM) in AT families, allowing the risk of cancer associated with ATM heterozygosity status to be better assessed. We report a family study of AT patients, in which we estimated the risk of cancer according to ATM heterozygosity status. We analyzed demographic characteristics and occurrence of cancer in 1,423 relatives of AT patients. Haplotyping was performed in living relatives. The probability of being heterozygotes for ATM was calculated for deceased relatives. The risk of developing cancer was estimated in the cohort of relatives, and expected numbers of cancer cases were calculated from French age period-specific incidence rates. The number of cancers at all sites in the total population of relatives was not higher than expected. However, significant heterogeneity was found according to ATM heterozygosity status. This is mainly due to the increased risk of breast cancer previously observed in obligate heterozygotes. In obligate heterozygotes, relative risk (RR) was non-significantly increased for thyroid cancer, leukemia and liver cancer. Risks of ovarian, lung, pancreatic, kidney, stomach and colorectal cancers were non-significantly increased in the group with 0.5 probability of being heterozygotes. The RR was not significantly increased for any site of cancer, except for breast. Therefore, there is no evidence that specific screening of relatives of AT patients would be justified at particular sites other than the breast. However, the amplitude of the risk of breast cancer estimated in heterozygous women does not appear to justify a separate screening program from that already available to women with a first-degree relative affected by breast cancer.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Cell Cycle Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Protein-Serine-Threonine Kinases,
http://linkedlifedata.com/resource/pubmed/chemical/Tumor Suppressor Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/ataxia telangiectasia mutated...
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0020-7136
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pubmed:author |
pubmed-author:AndriesLL,
pubmed-author:AuriasAA,
pubmed-author:Bressac-de-PailleretsBB,
pubmed-author:CroquetteM FMF,
pubmed-author:DebréMM,
pubmed-author:Geoffroy-PerezBB,
pubmed-author:GriscelliCC,
pubmed-author:JaninNN,
pubmed-author:LaugéAA,
pubmed-author:OssianKK,
pubmed-author:Stoppa-LyonnetDD
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pubmed:copyrightInfo |
Copyright 2001 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
288-93
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pubmed:dateRevised |
2011-11-2
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pubmed:meshHeading |
pubmed-meshheading:11410879-Ataxia Telangiectasia,
pubmed-meshheading:11410879-Cell Cycle Proteins,
pubmed-meshheading:11410879-Child,
pubmed-meshheading:11410879-Child, Preschool,
pubmed-meshheading:11410879-Chromosome Segregation,
pubmed-meshheading:11410879-DNA-Binding Proteins,
pubmed-meshheading:11410879-Female,
pubmed-meshheading:11410879-France,
pubmed-meshheading:11410879-Genetic Predisposition to Disease,
pubmed-meshheading:11410879-Haplotypes,
pubmed-meshheading:11410879-Heterozygote,
pubmed-meshheading:11410879-Humans,
pubmed-meshheading:11410879-Male,
pubmed-meshheading:11410879-Neoplasms,
pubmed-meshheading:11410879-Protein-Serine-Threonine Kinases,
pubmed-meshheading:11410879-Risk Factors,
pubmed-meshheading:11410879-Tumor Suppressor Proteins
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pubmed:year |
2001
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pubmed:articleTitle |
Cancer risk in heterozygotes for ataxia-telangiectasia.
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pubmed:affiliation |
U521 INSERM, Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Villejuif Cedex, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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