Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
Identifieur interne : 008628 ( Main/Exploration ); précédent : 008627; suivant : 008629Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
Auteurs : Graham B. Byrnes [France] ; Melissa C. Southey [Australie] ; John L. Hopper [Australie]Source :
- Breast Cancer Research : BCR [ 1465-5411 ] ; 2008.
Abstract
A woman typically presents for genetic counselling because she has a strong family history and is interested in knowing the probability she will develop disease in the future; that is, her absolute risk. Relative risk for a given factor refers to risk compared with either population average risk (sense a), or risk when not having the factor, with all other factors held constant (sense b). Not understanding that these are three distinct concepts can result in failure to correctly appreciate the consequences of studies on clinical genetic testing. Several studies found that the frequencies of mutations in
Url:
DOI: 10.1186/bcr2099
PubMed: 18557994
PubMed Central: 2481495
Affiliations:
- Australie, France
- Auvergne-Rhône-Alpes, Rhône-Alpes, Victoria (État)
- Lyon, Melbourne
- Université de Melbourne
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Byrnes</name><affiliation wicri:level="3"><nlm:aff id="I1">Epidemiology Methods and Support Group, International Agency for Research on Cancer, 150 cours Albert Thomas, Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Epidemiology Methods and Support Group, International Agency for Research on Cancer, 150 cours Albert Thomas, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C" last="Southey">Melissa C. Southey</name><affiliation wicri:level="4"><nlm:aff id="I2">Department of Pathology, The University of Melbourne, Victoria 3010, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pathology, The University of Melbourne, Victoria 3010</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L" last="Hopper">John L. Hopper</name><affiliation wicri:level="4"><nlm:aff id="I3">Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Swanston Street, Carlton, Victoria 3053, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Swanston Street, Carlton, Victoria 3053</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18557994</idno><idno type="pmc">2481495</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2481495</idno><idno type="RBID">PMC:2481495</idno><idno type="doi">10.1186/bcr2099</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">001140</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001140</idno><idno type="wicri:Area/Pmc/Curation">001001</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001001</idno><idno type="wicri:Area/Pmc/Checkpoint">002A44</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002A44</idno><idno type="wicri:Area/Ncbi/Merge">000406</idno><idno type="wicri:Area/Ncbi/Curation">000406</idno><idno type="wicri:Area/Ncbi/Checkpoint">000406</idno><idno type="wicri:doubleKey">1465-5411:2008:Byrnes G:are:the:so</idno><idno type="wicri:Area/Main/Merge">008E83</idno><idno type="wicri:Area/Main/Curation">008628</idno><idno type="wicri:Area/Main/Exploration">008628</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Are the so-called low penetrance breast cancer genes, <italic>ATM</italic>, <italic>BRIP1</italic>, <italic>PALB2 </italic>and <italic>CHEK2</italic>, high risk for women with strong family histories?</title><author><name sortKey="Byrnes, Graham B" sort="Byrnes, Graham B" uniqKey="Byrnes G" first="Graham B" last="Byrnes">Graham B. Byrnes</name><affiliation wicri:level="3"><nlm:aff id="I1">Epidemiology Methods and Support Group, International Agency for Research on Cancer, 150 cours Albert Thomas, Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Epidemiology Methods and Support Group, International Agency for Research on Cancer, 150 cours Albert Thomas, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C" last="Southey">Melissa C. Southey</name><affiliation wicri:level="4"><nlm:aff id="I2">Department of Pathology, The University of Melbourne, Victoria 3010, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pathology, The University of Melbourne, Victoria 3010</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L" last="Hopper">John L. Hopper</name><affiliation wicri:level="4"><nlm:aff id="I3">Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Swanston Street, Carlton, Victoria 3053, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Swanston Street, Carlton, Victoria 3053</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author></analytic><series><title level="j">Breast Cancer Research : BCR</title><idno type="ISSN">1465-5411</idno><idno type="eISSN">1465-542X</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>A woman typically presents for genetic counselling because she has a strong family history and is interested in knowing the probability she will develop disease in the future; that is, her absolute risk. Relative risk for a given factor refers to risk compared with either population average risk (sense a), or risk when not having the factor, with all other factors held constant (sense b). Not understanding that these are three distinct concepts can result in failure to correctly appreciate the consequences of studies on clinical genetic testing. Several studies found that the frequencies of mutations in <italic>ATM</italic>, <italic>BRIP1</italic>, <italic>PALB2 </italic>and <italic>CHEK2 </italic>were many times greater for cases with a strong family history than for controls. To account for the selected case sampling (ascertainment), a statistical model that assumes that the effect of any measured variant multiplies the effect of unmeasured variants was applied. This multiplicative polygenic model in effect estimated the relative risk in the sense b, not sense a, and found it was in the range of 1.7 to 2.4. The authors concluded that the variants are "low penetrance". They failed to note that their model fits predicted that, for some women, absolute risk may be as high as for <italic>BRCA2 </italic>mutation carriers. This is because the relative risk multiplies polygenic risk, and the latter is predicted by family history. Therefore, mutation testing of these genes for women with a strong family history, especially if it is of early onset, may be as clinically relevant as it is for <italic>BRCA1 </italic>and <italic>BRCA2</italic>.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Australie</li><li>France</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Rhône-Alpes</li><li>Victoria (État)</li></region><settlement><li>Lyon</li><li>Melbourne</li></settlement><orgName><li>Université de Melbourne</li></orgName></list><tree><country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Byrnes, Graham B" sort="Byrnes, Graham B" uniqKey="Byrnes G" first="Graham B" last="Byrnes">Graham B. Byrnes</name></region></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C" last="Southey">Melissa C. Southey</name></region><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L" last="Hopper">John L. Hopper</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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