AustralieFrV1, Istex, Curation, bibRecord, 002286

Two ATM variants and breast cancer risk

Identifieur interne : 002286 ( Istex/Curation ); précédent : 002285; suivant : 002287

Two ATM variants and breast cancer risk

Auteurs : Deborah Thompson [Royaume-Uni, France] ; Antonis C. Antoniou [Royaume-Uni] ; Mark Jenkins [Australie] ; Anna Marsh [Australie] ; Xiaoqing Chen [Australie] ; Tierney Wayne [États-Unis] ; Andrea Tesoriero [Australie] ; Roger Milne [Australie] ; Amanda Spurdle [Australie] ; Yvonne Thorstenson [États-Unis] ; Melissa Southey [Australie] ; Graham G. Giles [Australie] ; Kconfab Investigators [Australie] ; Kum Kum Khanna [Australie] ; Joseph Sambrook [Australie] ; Peter Oefner [États-Unis] ; David Goldgar [France] ; John L. Hopper [Australie] ; Doug Easton [Royaume-Uni] ; Georgia Chenevix-Trench [Australie]

Source :

Human Mutation [ 1059-7794 ] ; 2005-06.

RBID : ISTEX:BA961BF331C840E204CE5774F8CA76807E19FE9B

Descripteurs français

Wicri :
- topic : Cancer, Recherche médicale.

English descriptors

Abstract

The ATM gene is mutated in ataxia‐telangiectasia (AT). Heterozygote female relatives of AT cases have a 2‐7fold increased risk of breast cancer. We previously reported high risks of breast cancer associated with certain ATM variants. To estimate the risks more precisely, we have examined two ATM variants, c.1066‐6T>G (IVS10‐6T>G) and c.4258C>T (p.Leu1420Phe), in additional cases and controls from the same Australian cohorts previously used to estimate the risk of breast cancer associated with c.1066‐6T>G. A total of 775 and 84 population‐based controls were genotyped for the c.1066‐6T>G and c.4258C>T ATM variants respectively, as were index cases from 378 and 373 non‐BRCA1/2 breast cancer families. Penetrance was estimated by Bayes factor analysis. The allele frequencies of ATM c.1066‐6T>G and c.4258C>T estimated from controls were 0.005 (95% CI=0.002 to 0.009) and 0.012 (95% CI=0.001 to 0.042), respectively. We identified three new breast cancer families with c.1066‐6T>G, and seven families with c.4258C>T. Combining with the two c.1066‐6T>G families previously reported, the estimated penetrance to age 70 of c.1066‐6T>G was 17.2% (95% CI=4.7% to 37.5%). For c.4258C>T, the estimated average penetrance was 4.8% (95% CI 1.7% to 10.1%). In conclusion, we found no evidence that the ATM c.4258C>T variant increases breast cancer risk, and little evidence that c.1066‐6T>G confers an elevated risk. Analysis of additional families will be necessary to define more precisely the risk, if any, associated with c.1066‐6T>G. © 2005 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/BA961BF331C840E204CE5774F8CA76807E19FE9B/fulltext/pdf

DOI: 10.1002/humu.9344

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Le document en format XML

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<author><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>Peter MacCallum Cancer Institute, Melbourne</wicri:regionArea>
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<author><name sortKey="Khanna, Kum Kum" sort="Khanna, Kum Kum" uniqKey="Khanna K" first="Kum Kum" last="Khanna">Kum Kum Khanna</name>
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<author><name sortKey="Oefner, Peter" sort="Oefner, Peter" uniqKey="Oefner P" first="Peter" last="Oefner">Peter Oefner</name>
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<author><name sortKey="Goldgar, David" sort="Goldgar, David" uniqKey="Goldgar D" first="David" last="Goldgar">David Goldgar</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Unit of Genetic Epidemiology, International Agency for Research on Cancer, Lyon</wicri:regionArea>
</affiliation>
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<author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
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</affiliation>
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<country xml:lang="fr">Royaume-Uni</country>
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</affiliation>
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<author><name sortKey="Chenevix Rench, Georgia" sort="Chenevix Rench, Georgia" uniqKey="Chenevix Rench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
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<country wicri:rule="url">Australie</country>
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<country xml:lang="fr">Australie</country>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Additional families</term>
<term>Allele</term>
<term>Allele frequencies</term>
<term>Allele frequency</term>
<term>Allele frequency estimate</term>
<term>Annealing temperature</term>
<term>Ataxia telangiectasia</term>
<term>Bayes factor analysis</term>
<term>Bilateral breast cancer</term>
<term>Brca1</term>
<term>Brca2</term>
<term>Breast</term>
<term>Breast cancer</term>
<term>Breast cancer cases</term>
<term>Breast cancer families</term>
<term>Breast cancer risk</term>
<term>Broeks</term>
<term>Cancer</term>
<term>Cancer council victoria</term>
<term>Cancer genet cytogenet</term>
<term>Cancer research</term>
<term>Cancer risk</term>
<term>Carrier frequency</term>
<term>Caucasian ancestry</term>
<term>Confidence intervals</term>
<term>Cumulative risk</term>
<term>Cycling conditions</term>
<term>Dork</term>
<term>Early onset</term>
<term>Equal amounts</term>
<term>Exon</term>
<term>Familial breast cancer</term>
<term>Family history</term>
<term>Family members</term>
<term>Final extension</term>
<term>Functional consequences</term>
<term>Genet</term>
<term>Genet epidemiol</term>
<term>Genetic epidemiology</term>
<term>Genotype</term>
<term>Genotyped</term>
<term>Genotyping</term>
<term>Germline</term>
<term>Germline mutations</term>
<term>Haplotype</term>
<term>Haplotype analysis</term>
<term>Heterozygote</term>
<term>High risk</term>
<term>Homozygote</term>
<term>Hopper</term>
<term>Incidence rates</term>
<term>Index case</term>
<term>Index cases</term>
<term>Kconfab</term>
<term>Kconfab cases</term>
<term>Kconfab families</term>
<term>Kconfab participants</term>
<term>Lcls</term>
<term>Likelihood ratio test</term>
<term>Linkage analysis</term>
<term>Little evidence</term>
<term>Male breast cancer</term>
<term>Medical research</term>
<term>Medical research council</term>
<term>Medium method</term>
<term>Melbourne</term>
<term>Missense</term>
<term>Missense mutations</term>
<term>Missense variant</term>
<term>Mutation</term>
<term>National breast cancer foundation</term>
<term>National health</term>
<term>Natl cancer inst</term>
<term>Original dataset</term>
<term>Original study</term>
<term>Other studies</term>
<term>Ovarian cancer</term>
<term>Penetrance</term>
<term>Penetrance analysis</term>
<term>Penetrance estimates</term>
<term>Personal history</term>
<term>Phenotype</term>
<term>Previous study</term>
<term>Primer</term>
<term>Protein truncation test</term>
<term>Relevant variant</term>
<term>Sequence variants</term>
<term>Single prophylactic mastectomy specimen</term>
<term>Subsequent studies</term>
<term>Substantial heterogeneity</term>
<term>Variant</term>
<term>Wild type individuals</term>
<term>Wildtype individuals</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Additional families</term>
<term>Allele</term>
<term>Allele frequencies</term>
<term>Allele frequency</term>
<term>Allele frequency estimate</term>
<term>Annealing temperature</term>
<term>Ataxia telangiectasia</term>
<term>Bayes factor analysis</term>
<term>Bilateral breast cancer</term>
<term>Brca1</term>
<term>Brca2</term>
<term>Breast</term>
<term>Breast cancer</term>
<term>Breast cancer cases</term>
<term>Breast cancer families</term>
<term>Breast cancer risk</term>
<term>Broeks</term>
<term>Cancer</term>
<term>Cancer council victoria</term>
<term>Cancer genet cytogenet</term>
<term>Cancer research</term>
<term>Cancer risk</term>
<term>Carrier frequency</term>
<term>Caucasian ancestry</term>
<term>Confidence intervals</term>
<term>Cumulative risk</term>
<term>Cycling conditions</term>
<term>Dork</term>
<term>Early onset</term>
<term>Equal amounts</term>
<term>Exon</term>
<term>Familial breast cancer</term>
<term>Family history</term>
<term>Family members</term>
<term>Final extension</term>
<term>Functional consequences</term>
<term>Genet</term>
<term>Genet epidemiol</term>
<term>Genetic epidemiology</term>
<term>Genotype</term>
<term>Genotyped</term>
<term>Genotyping</term>
<term>Germline</term>
<term>Germline mutations</term>
<term>Haplotype</term>
<term>Haplotype analysis</term>
<term>Heterozygote</term>
<term>High risk</term>
<term>Homozygote</term>
<term>Hopper</term>
<term>Incidence rates</term>
<term>Index case</term>
<term>Index cases</term>
<term>Kconfab</term>
<term>Kconfab cases</term>
<term>Kconfab families</term>
<term>Kconfab participants</term>
<term>Lcls</term>
<term>Likelihood ratio test</term>
<term>Linkage analysis</term>
<term>Little evidence</term>
<term>Male breast cancer</term>
<term>Medical research</term>
<term>Medical research council</term>
<term>Medium method</term>
<term>Melbourne</term>
<term>Missense</term>
<term>Missense mutations</term>
<term>Missense variant</term>
<term>Mutation</term>
<term>National breast cancer foundation</term>
<term>National health</term>
<term>Natl cancer inst</term>
<term>Original dataset</term>
<term>Original study</term>
<term>Other studies</term>
<term>Ovarian cancer</term>
<term>Penetrance</term>
<term>Penetrance analysis</term>
<term>Penetrance estimates</term>
<term>Personal history</term>
<term>Phenotype</term>
<term>Previous study</term>
<term>Primer</term>
<term>Protein truncation test</term>
<term>Relevant variant</term>
<term>Sequence variants</term>
<term>Single prophylactic mastectomy specimen</term>
<term>Subsequent studies</term>
<term>Substantial heterogeneity</term>
<term>Variant</term>
<term>Wild type individuals</term>
<term>Wildtype individuals</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cancer</term>
<term>Recherche médicale</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The ATM gene is mutated in ataxia‐telangiectasia (AT). Heterozygote female relatives of AT cases have a 2‐7fold increased risk of breast cancer. We previously reported high risks of breast cancer associated with certain ATM variants. To estimate the risks more precisely, we have examined two ATM variants, c.1066‐6T>G (IVS10‐6T>G) and c.4258C>T (p.Leu1420Phe), in additional cases and controls from the same Australian cohorts previously used to estimate the risk of breast cancer associated with c.1066‐6T>G. A total of 775 and 84 population‐based controls were genotyped for the c.1066‐6T>G and c.4258C>T ATM variants respectively, as were index cases from 378 and 373 non‐BRCA1/2 breast cancer families. Penetrance was estimated by Bayes factor analysis. The allele frequencies of ATM c.1066‐6T>G and c.4258C>T estimated from controls were 0.005 (95% CI=0.002 to 0.009) and 0.012 (95% CI=0.001 to 0.042), respectively. We identified three new breast cancer families with c.1066‐6T>G, and seven families with c.4258C>T. Combining with the two c.1066‐6T>G families previously reported, the estimated penetrance to age 70 of c.1066‐6T>G was 17.2% (95% CI=4.7% to 37.5%). For c.4258C>T, the estimated average penetrance was 4.8% (95% CI 1.7% to 10.1%). In conclusion, we found no evidence that the ATM c.4258C>T variant increases breast cancer risk, and little evidence that c.1066‐6T>G confers an elevated risk. Analysis of additional families will be necessary to define more precisely the risk, if any, associated with c.1066‐6T>G. © 2005 Wiley‐Liss, Inc.</div>
</front>
</TEI>
</record>

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Two ATM variants and breast cancer risk

Two ATM variants and breast cancer risk

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