AustralieFrV1, Main, Merge, bibRecord, 008E70

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Identifieur interne : 008E70 ( Main/Merge ); précédent : 008E69; suivant : 008E71

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Auteurs : Antonis C. Antoniou ; Amanda B. Spurdle ; Olga M. Sinilnikova ; Sue Healey ; Karen A. Pooley ; Rita K. Schmutzler ; Beatrix Versmold ; Christoph Engel ; Alfons Meindl ; Norbert Arnold ; Wera Hofmann ; Christian Sutter ; Dieter Niederacher ; Helmut Deissler ; Trinidad Caldes ; Kati K Mpj Rvi ; Heli Nevanlinna ; Jacques Simard ; Jonathan Beesley ; Xiaoqing Chen ; Susan L. Neuhausen ; Timothy R. Rebbeck ; Theresa Wagner ; Henry T. Lynch ; Claudine Isaacs ; Jeffrey Weitzel ; Patricia A. Ganz ; Mary B. Daly ; Gail Tomlinson ; Olufunmilayo I. Olopade ; Joanne L. Blum ; Fergus J. Couch ; Paolo Peterlongo ; Siranoush Manoukian ; Monica Barile ; Paolo Radice ; Csilla I. Szabo ; Lutecia H. Mateus Pereira ; Mark H. Greene ; Gad Rennert ; Flavio Lejbkowicz ; Ofra Barnett-Griness ; Irene L. Andrulis ; Hilmi Ozcelik ; Anne-Marie Gerdes ; Maria A. Caligo ; Yael Laitman ; Bella Kaufman ; Roni Milgrom ; Eitan Friedman ; Susan M. Domchek ; Katherine L. Nathanson ; Ana Osorio ; Gemma Llort ; Roger L. Milne ; Javier Benítez ; Ute Hamann ; Frans B. L. Hogervorst ; Peggy Manders ; Marjolijn J. L. Ligtenberg ; Ans M. W. Van Den Ouweland ; Susan Peock ; Margaret Cook ; Radka Platte ; D. Gareth Evans ; Rosalind Eeles ; Gabriella Pichert ; Carol Chu ; Diana Eccles ; Rosemarie Davidson ; Fiona Douglas ; Andrew K. Godwin ; Laure Barjhoux ; Sylvie Mazoyer ; Hagay Sobol ; Violaine Bourdon ; François Eisinger ; Agnès Chompret ; Corinne Capoulade ; Brigitte Bressac-De Paillerets ; Gilbert M. Lenoir ; Marion Gauthier-Villars ; Claude Houdayer ; Dominique Stoppa-Lyonnet ; Georgia Chenevix-Trench ; Douglas F. Easton

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2008.

RBID : PMC:2427217

Abstract

Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20–1.45, p_trend = 1.7 × 10⁻⁸ and HR = 1.12, 95% CI: 1.02–1.24, p_trend = 0.02) but not in BRCA1 carriers. rs3803662 was associated with increased breast cancer risk in both BRCA1 and BRCA2 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06–1.20, p_trend = 5 × 10⁻⁵ in BRCA1 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in BRCA2 mutation carriers. The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427217

DOI: 10.1016/j.ajhg.2008.02.008
PubMed: 18355772
PubMed Central: 2427217

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Le document en format XML

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<author><name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name>
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<author><name sortKey="Douglas, Fiona" sort="Douglas, Fiona" uniqKey="Douglas F" first="Fiona" last="Douglas">Fiona Douglas</name>
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<author><name sortKey="Godwin, Andrew K" sort="Godwin, Andrew K" uniqKey="Godwin A" first="Andrew K." last="Godwin">Andrew K. Godwin</name>
<affiliation><nlm:aff id="aff25"></nlm:aff>
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<author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name>
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<author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name>
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<author><name sortKey="Sobol, Hagay" sort="Sobol, Hagay" uniqKey="Sobol H" first="Hagay" last="Sobol">Hagay Sobol</name>
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<author><name sortKey="Bourdon, Violaine" sort="Bourdon, Violaine" uniqKey="Bourdon V" first="Violaine" last="Bourdon">Violaine Bourdon</name>
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<author><name sortKey="Chompret, Agnes" sort="Chompret, Agnes" uniqKey="Chompret A" first="Agnès" last="Chompret">Agnès Chompret</name>
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<author><name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name>
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</affiliation>
</author>
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<affiliation><nlm:aff id="aff63"></nlm:aff>
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</titleStmt>
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<idno type="pmid">18355772</idno>
<idno type="pmc">2427217</idno>
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<idno type="doi">10.1016/j.ajhg.2008.02.008</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in <italic>BRCA1</italic>
 and <italic>BRCA2</italic>
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<affiliation><nlm:aff id="aff4"></nlm:aff>
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<affiliation><nlm:aff id="aff61"></nlm:aff>
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<affiliation><nlm:aff id="aff62"></nlm:aff>
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<author><name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name>
<affiliation><nlm:aff id="aff63"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lenoir, Gilbert M" sort="Lenoir, Gilbert M" uniqKey="Lenoir G" first="Gilbert M." last="Lenoir">Gilbert M. Lenoir</name>
<affiliation><nlm:aff id="aff63"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gauthier Villars, Marion" sort="Gauthier Villars, Marion" uniqKey="Gauthier Villars M" first="Marion" last="Gauthier-Villars">Marion Gauthier-Villars</name>
<affiliation><nlm:aff id="aff64"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name>
<affiliation><nlm:aff id="aff64"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
<affiliation><nlm:aff id="aff64"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
<affiliation><nlm:aff id="aff1"></nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</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>Germline mutations in <italic>BRCA1</italic>
 and <italic>BRCA2</italic>
 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in <italic>FGFR2</italic>
 (rs2981582), <italic>TNRC9</italic>
 (rs3803662), and <italic>MAP3K1</italic>
 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in <italic>BRCA1</italic>
 and <italic>BRCA2</italic>
 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in <italic>BRCA2</italic>
 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20–1.45, p<sub>trend</sub>
 = 1.7 × 10<sup>−8</sup>
 and HR = 1.12, 95% CI: 1.02–1.24, p<sub>trend</sub>
 = 0.02) but not in <italic>BRCA1</italic>
 carriers. rs3803662 was associated with increased breast cancer risk in both <italic>BRCA1</italic>
 and <italic>BRCA2</italic>
 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06–1.20, p<sub>trend</sub>
 = 5 × 10<sup>−5</sup>
 in <italic>BRCA1</italic>
 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in <italic>BRCA2</italic>
 mutation carriers. The differences in the effects of the <italic>FGFR2</italic>
 and <italic>MAP3K1</italic>
 SNPs between <italic>BRCA1</italic>
 and <italic>BRCA2</italic>
 carriers point to differences in the biology of <italic>BRCA1</italic>
 and <italic>BRCA2</italic>
 breast cancer tumors and confirm the distinct nature of breast cancer in <italic>BRCA1</italic>
 mutation carriers.</p>
</div>
</front>
</TEI>
</record>

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Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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