Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutati...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Breast cancer research : BCR 2011-01, Vol.13 (6), p.R110-R110, Article R110
Hauptverfasser: Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas vO, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Muñoz-Repeto, Iván, Durán, Mercedes, Godino, Javier, Pertesi, Maroulio, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gómez García, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew K, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schäfer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, François, Mazoyer, Sylvie, Léoné, Mélanie, Boutry-Kryza, Nadia, Hardouin, Agnès, Berthet, Pascaline, Muller, Danièle, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page R110
container_issue 6
container_start_page R110
container_title Breast cancer research : BCR
container_volume 13
creator Mulligan, Anna Marie
Couch, Fergus J
Barrowdale, Daniel
Domchek, Susan M
Eccles, Diana
Nevanlinna, Heli
Ramus, Susan J
Robson, Mark
Sherman, Mark
Spurdle, Amanda B
Wappenschmidt, Barbara
Lee, Andrew
McGuffog, Lesley
Healey, Sue
Sinilnikova, Olga M
Janavicius, Ramunas
Hansen, Thomas vO
Nielsen, Finn C
Ejlertsen, Bent
Osorio, Ana
Muñoz-Repeto, Iván
Durán, Mercedes
Godino, Javier
Pertesi, Maroulio
Benítez, Javier
Peterlongo, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Cattaneo, Elisa
Bonanni, Bernardo
Viel, Alessandra
Pasini, Barbara
Papi, Laura
Ottini, Laura
Savarese, Antonella
Bernard, Loris
Radice, Paolo
Hamann, Ute
Verheus, Martijn
Meijers-Heijboer, Hanne E J
Wijnen, Juul
Gómez García, Encarna B
Nelen, Marcel R
Kets, C Marleen
Seynaeve, Caroline
Tilanus-Linthorst, Madeleine M A
van der Luijt, Rob B
van Os, Theo
Rookus, Matti
Frost, Debra
Jones, J Louise
Evans, D Gareth
Lalloo, Fiona
Eeles, Ros
Izatt, Louise
Adlard, Julian
Davidson, Rosemarie
Cook, Jackie
Donaldson, Alan
Dorkins, Huw
Gregory, Helen
Eason, Jacqueline
Houghton, Catherine
Barwell, Julian
Side, Lucy E
McCann, Emma
Murray, Alex
Peock, Susan
Godwin, Andrew K
Schmutzler, Rita K
Rhiem, Kerstin
Engel, Christoph
Meindl, Alfons
Ruehl, Ina
Arnold, Norbert
Niederacher, Dieter
Sutter, Christian
Deissler, Helmut
Gadzicki, Dorothea
Kast, Karin
Preisler-Adams, Sabine
Varon-Mateeva, Raymonda
Schoenbuchner, Ines
Fiebig, Britta
Heinritz, Wolfram
Schäfer, Dieter
Gevensleben, Heidrun
Caux-Moncoutier, Virginie
Fassy-Colcombet, Marion
Cornelis, François
Mazoyer, Sylvie
Léoné, Mélanie
Boutry-Kryza, Nadia
Hardouin, Agnès
Berthet, Pascaline
Muller, Danièle
Fricker, Jean-Pierre
Mortemousque, Isabelle
Pujol, Pascal
description Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
doi_str_mv 10.1186/bcr3052
format Article
fullrecord <record><control><sourceid>gale_swepu</sourceid><recordid>TN_cdi_swepub_primary_oai_swepub_ki_se_540959</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A480608849</galeid><sourcerecordid>A480608849</sourcerecordid><originalsourceid>FETCH-LOGICAL-c682t-c1bda43a3d6a0dee7bc3de51f802a8c88cbe66827ede4bbcd7a2088f499006a03</originalsourceid><addsrcrecordid>eNp9k99u0zAUxiMEYmMg3gBZ4oIbutlOnDhcIJXyZ5OKkBAg7izbOWkNTlxsp1NfjafDacvUIjZFVk5Oft937JOcLHtK8DkhvLxQ2ueY0XvZKSlKNmEF_X7_ID7JHoXwA2NSccYfZieUYpbXdXWa_Z65rnM9Uh5kiEjLXoNHYQgaVtEoY03cIGktWAhIekAyBKeNjNCgaxOXKA6dG0aFiptVYkyP3nyeTQmSfbONKOqGKKNJRbT03oAPr5CHMNgYUOtdh-IS0Mz1wflohg65Fl31awjRLGR0PoyJj64x7SgdH7b-F_Rx9qCVNsCT_f0s-_r-3ZfZ5WT-6cPVbDqf6JLTONFENbLIZd6UEjcAldJ5A4y0HFPJNedaQZnIChoolNJNJSnmvC3qGuMkyc-yyc43XMNqUGLlTSf9RjhpxD71M0UgWIFrVid-fitvh1VaKq1RQKmsFcEgJPBSFG1bClXVjeBEYdAlyRnJ7yy_SHYptdi6EYZrQhP_8lb-rfk2Fc4vhDWDqEq6tX-9wxPbQaOhj17aI9Xxm94sxcKtRZ7TkrGDest_ZJfTuTB9AN-J1MgKl5isScJf7Ot592tIX1l0Jv1s1soe3BBEzXKKCavHPj7fkQtpITm1LtXXIy2mBU92nBd3U5RjQsqiqhJ1_h8qXQ10RrseWpPyR7b7bWrvQvDQ3hyNYDGOnNiPXCKfHTbwhvs7Y_kfET0pww</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>953201599</pqid></control><display><type>article</type><title>Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2</title><source>MEDLINE</source><source>DOAJ Directory of Open Access Journals</source><source>SpringerLink Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><source>SWEPUB Freely available online</source><source>PubMed Central Open Access</source><source>Springer Nature OA Free Journals</source><creator>Mulligan, Anna Marie ; Couch, Fergus J ; Barrowdale, Daniel ; Domchek, Susan M ; Eccles, Diana ; Nevanlinna, Heli ; Ramus, Susan J ; Robson, Mark ; Sherman, Mark ; Spurdle, Amanda B ; Wappenschmidt, Barbara ; Lee, Andrew ; McGuffog, Lesley ; Healey, Sue ; Sinilnikova, Olga M ; Janavicius, Ramunas ; Hansen, Thomas vO ; Nielsen, Finn C ; Ejlertsen, Bent ; Osorio, Ana ; Muñoz-Repeto, Iván ; Durán, Mercedes ; Godino, Javier ; Pertesi, Maroulio ; Benítez, Javier ; Peterlongo, Paolo ; Manoukian, Siranoush ; Peissel, Bernard ; Zaffaroni, Daniela ; Cattaneo, Elisa ; Bonanni, Bernardo ; Viel, Alessandra ; Pasini, Barbara ; Papi, Laura ; Ottini, Laura ; Savarese, Antonella ; Bernard, Loris ; Radice, Paolo ; Hamann, Ute ; Verheus, Martijn ; Meijers-Heijboer, Hanne E J ; Wijnen, Juul ; Gómez García, Encarna B ; Nelen, Marcel R ; Kets, C Marleen ; Seynaeve, Caroline ; Tilanus-Linthorst, Madeleine M A ; van der Luijt, Rob B ; van Os, Theo ; Rookus, Matti ; Frost, Debra ; Jones, J Louise ; Evans, D Gareth ; Lalloo, Fiona ; Eeles, Ros ; Izatt, Louise ; Adlard, Julian ; Davidson, Rosemarie ; Cook, Jackie ; Donaldson, Alan ; Dorkins, Huw ; Gregory, Helen ; Eason, Jacqueline ; Houghton, Catherine ; Barwell, Julian ; Side, Lucy E ; McCann, Emma ; Murray, Alex ; Peock, Susan ; Godwin, Andrew K ; Schmutzler, Rita K ; Rhiem, Kerstin ; Engel, Christoph ; Meindl, Alfons ; Ruehl, Ina ; Arnold, Norbert ; Niederacher, Dieter ; Sutter, Christian ; Deissler, Helmut ; Gadzicki, Dorothea ; Kast, Karin ; Preisler-Adams, Sabine ; Varon-Mateeva, Raymonda ; Schoenbuchner, Ines ; Fiebig, Britta ; Heinritz, Wolfram ; Schäfer, Dieter ; Gevensleben, Heidrun ; Caux-Moncoutier, Virginie ; Fassy-Colcombet, Marion ; Cornelis, François ; Mazoyer, Sylvie ; Léoné, Mélanie ; Boutry-Kryza, Nadia ; Hardouin, Agnès ; Berthet, Pascaline ; Muller, Danièle ; Fricker, Jean-Pierre ; Mortemousque, Isabelle ; Pujol, Pascal</creator><creatorcontrib>Mulligan, Anna Marie ; Couch, Fergus J ; Barrowdale, Daniel ; Domchek, Susan M ; Eccles, Diana ; Nevanlinna, Heli ; Ramus, Susan J ; Robson, Mark ; Sherman, Mark ; Spurdle, Amanda B ; Wappenschmidt, Barbara ; Lee, Andrew ; McGuffog, Lesley ; Healey, Sue ; Sinilnikova, Olga M ; Janavicius, Ramunas ; Hansen, Thomas vO ; Nielsen, Finn C ; Ejlertsen, Bent ; Osorio, Ana ; Muñoz-Repeto, Iván ; Durán, Mercedes ; Godino, Javier ; Pertesi, Maroulio ; Benítez, Javier ; Peterlongo, Paolo ; Manoukian, Siranoush ; Peissel, Bernard ; Zaffaroni, Daniela ; Cattaneo, Elisa ; Bonanni, Bernardo ; Viel, Alessandra ; Pasini, Barbara ; Papi, Laura ; Ottini, Laura ; Savarese, Antonella ; Bernard, Loris ; Radice, Paolo ; Hamann, Ute ; Verheus, Martijn ; Meijers-Heijboer, Hanne E J ; Wijnen, Juul ; Gómez García, Encarna B ; Nelen, Marcel R ; Kets, C Marleen ; Seynaeve, Caroline ; Tilanus-Linthorst, Madeleine M A ; van der Luijt, Rob B ; van Os, Theo ; Rookus, Matti ; Frost, Debra ; Jones, J Louise ; Evans, D Gareth ; Lalloo, Fiona ; Eeles, Ros ; Izatt, Louise ; Adlard, Julian ; Davidson, Rosemarie ; Cook, Jackie ; Donaldson, Alan ; Dorkins, Huw ; Gregory, Helen ; Eason, Jacqueline ; Houghton, Catherine ; Barwell, Julian ; Side, Lucy E ; McCann, Emma ; Murray, Alex ; Peock, Susan ; Godwin, Andrew K ; Schmutzler, Rita K ; Rhiem, Kerstin ; Engel, Christoph ; Meindl, Alfons ; Ruehl, Ina ; Arnold, Norbert ; Niederacher, Dieter ; Sutter, Christian ; Deissler, Helmut ; Gadzicki, Dorothea ; Kast, Karin ; Preisler-Adams, Sabine ; Varon-Mateeva, Raymonda ; Schoenbuchner, Ines ; Fiebig, Britta ; Heinritz, Wolfram ; Schäfer, Dieter ; Gevensleben, Heidrun ; Caux-Moncoutier, Virginie ; Fassy-Colcombet, Marion ; Cornelis, François ; Mazoyer, Sylvie ; Léoné, Mélanie ; Boutry-Kryza, Nadia ; Hardouin, Agnès ; Berthet, Pascaline ; Muller, Danièle ; Fricker, Jean-Pierre ; Mortemousque, Isabelle ; Pujol, Pascal ; Ontario Cancer Genetics Network ; kConFab Investigators ; EMBRACE ; GEMO Study Collaborators ; CIMBA ; Breast Cancer Family Registry ; HEBON ; SWE-BRCA</creatorcontrib><description>Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.</description><identifier>ISSN: 1465-542X</identifier><identifier>ISSN: 1465-5411</identifier><identifier>EISSN: 1465-542X</identifier><identifier>DOI: 10.1186/bcr3052</identifier><identifier>PMID: 22053997</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Alleles ; BRCA mutations ; Breast cancer ; Breast Neoplasms - classification ; Breast Neoplasms - genetics ; Breast Neoplasms - metabolism ; Cancer ; Cancer and Oncology ; Cancer genetics ; Cancer och onkologi ; Cancer research ; Clinical Medicine ; Disease susceptibility ; Female ; Gene mutation ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic aspects ; Genetic Predisposition to Disease ; Gynaecology, Obstetrics and Reproductive Medicine ; Gynekologi, obstetrik och reproduktionsmedicin ; Health aspects ; Heterozygote ; Humans ; Klinisk medicin ; Life Sciences ; Medical and Health Sciences ; Medicin och hälsovetenskap ; Mutation ; Polymorphism, Single Nucleotide ; Progesterone ; Receptors, Estrogen - metabolism ; Receptors, Progesterone - metabolism ; Risk ; SAMHÄLLSVETENSKAP ; Single nucleotide polymorphisms ; SOCIAL SCIENCES</subject><ispartof>Breast cancer research : BCR, 2011-01, Vol.13 (6), p.R110-R110, Article R110</ispartof><rights>COPYRIGHT 2011 BioMed Central Ltd.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><rights>Copyright ©2011 Mulligan et al.; licensee BioMed Central Ltd. 2011 Mulligan et al.; licensee BioMed Central Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c682t-c1bda43a3d6a0dee7bc3de51f802a8c88cbe66827ede4bbcd7a2088f499006a03</citedby><cites>FETCH-LOGICAL-c682t-c1bda43a3d6a0dee7bc3de51f802a8c88cbe66827ede4bbcd7a2088f499006a03</cites><orcidid>0000-0002-4678-2058 ; 0000-0002-5438-8309 ; 0000-0002-2135-0160</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326552/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326552/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,550,723,776,780,860,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22053997$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://inserm.hal.science/inserm-00670601$$DView record in HAL$$Hfree_for_read</backlink><backlink>$$Uhttps://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-76213$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttps://gup.ub.gu.se/publication/150912$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttps://lup.lub.lu.se/record/2493708$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:124187759$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Mulligan, Anna Marie</creatorcontrib><creatorcontrib>Couch, Fergus J</creatorcontrib><creatorcontrib>Barrowdale, Daniel</creatorcontrib><creatorcontrib>Domchek, Susan M</creatorcontrib><creatorcontrib>Eccles, Diana</creatorcontrib><creatorcontrib>Nevanlinna, Heli</creatorcontrib><creatorcontrib>Ramus, Susan J</creatorcontrib><creatorcontrib>Robson, Mark</creatorcontrib><creatorcontrib>Sherman, Mark</creatorcontrib><creatorcontrib>Spurdle, Amanda B</creatorcontrib><creatorcontrib>Wappenschmidt, Barbara</creatorcontrib><creatorcontrib>Lee, Andrew</creatorcontrib><creatorcontrib>McGuffog, Lesley</creatorcontrib><creatorcontrib>Healey, Sue</creatorcontrib><creatorcontrib>Sinilnikova, Olga M</creatorcontrib><creatorcontrib>Janavicius, Ramunas</creatorcontrib><creatorcontrib>Hansen, Thomas vO</creatorcontrib><creatorcontrib>Nielsen, Finn C</creatorcontrib><creatorcontrib>Ejlertsen, Bent</creatorcontrib><creatorcontrib>Osorio, Ana</creatorcontrib><creatorcontrib>Muñoz-Repeto, Iván</creatorcontrib><creatorcontrib>Durán, Mercedes</creatorcontrib><creatorcontrib>Godino, Javier</creatorcontrib><creatorcontrib>Pertesi, Maroulio</creatorcontrib><creatorcontrib>Benítez, Javier</creatorcontrib><creatorcontrib>Peterlongo, Paolo</creatorcontrib><creatorcontrib>Manoukian, Siranoush</creatorcontrib><creatorcontrib>Peissel, Bernard</creatorcontrib><creatorcontrib>Zaffaroni, Daniela</creatorcontrib><creatorcontrib>Cattaneo, Elisa</creatorcontrib><creatorcontrib>Bonanni, Bernardo</creatorcontrib><creatorcontrib>Viel, Alessandra</creatorcontrib><creatorcontrib>Pasini, Barbara</creatorcontrib><creatorcontrib>Papi, Laura</creatorcontrib><creatorcontrib>Ottini, Laura</creatorcontrib><creatorcontrib>Savarese, Antonella</creatorcontrib><creatorcontrib>Bernard, Loris</creatorcontrib><creatorcontrib>Radice, Paolo</creatorcontrib><creatorcontrib>Hamann, Ute</creatorcontrib><creatorcontrib>Verheus, Martijn</creatorcontrib><creatorcontrib>Meijers-Heijboer, Hanne E J</creatorcontrib><creatorcontrib>Wijnen, Juul</creatorcontrib><creatorcontrib>Gómez García, Encarna B</creatorcontrib><creatorcontrib>Nelen, Marcel R</creatorcontrib><creatorcontrib>Kets, C Marleen</creatorcontrib><creatorcontrib>Seynaeve, Caroline</creatorcontrib><creatorcontrib>Tilanus-Linthorst, Madeleine M A</creatorcontrib><creatorcontrib>van der Luijt, Rob B</creatorcontrib><creatorcontrib>van Os, Theo</creatorcontrib><creatorcontrib>Rookus, Matti</creatorcontrib><creatorcontrib>Frost, Debra</creatorcontrib><creatorcontrib>Jones, J Louise</creatorcontrib><creatorcontrib>Evans, D Gareth</creatorcontrib><creatorcontrib>Lalloo, Fiona</creatorcontrib><creatorcontrib>Eeles, Ros</creatorcontrib><creatorcontrib>Izatt, Louise</creatorcontrib><creatorcontrib>Adlard, Julian</creatorcontrib><creatorcontrib>Davidson, Rosemarie</creatorcontrib><creatorcontrib>Cook, Jackie</creatorcontrib><creatorcontrib>Donaldson, Alan</creatorcontrib><creatorcontrib>Dorkins, Huw</creatorcontrib><creatorcontrib>Gregory, Helen</creatorcontrib><creatorcontrib>Eason, Jacqueline</creatorcontrib><creatorcontrib>Houghton, Catherine</creatorcontrib><creatorcontrib>Barwell, Julian</creatorcontrib><creatorcontrib>Side, Lucy E</creatorcontrib><creatorcontrib>McCann, Emma</creatorcontrib><creatorcontrib>Murray, Alex</creatorcontrib><creatorcontrib>Peock, Susan</creatorcontrib><creatorcontrib>Godwin, Andrew K</creatorcontrib><creatorcontrib>Schmutzler, Rita K</creatorcontrib><creatorcontrib>Rhiem, Kerstin</creatorcontrib><creatorcontrib>Engel, Christoph</creatorcontrib><creatorcontrib>Meindl, Alfons</creatorcontrib><creatorcontrib>Ruehl, Ina</creatorcontrib><creatorcontrib>Arnold, Norbert</creatorcontrib><creatorcontrib>Niederacher, Dieter</creatorcontrib><creatorcontrib>Sutter, Christian</creatorcontrib><creatorcontrib>Deissler, Helmut</creatorcontrib><creatorcontrib>Gadzicki, Dorothea</creatorcontrib><creatorcontrib>Kast, Karin</creatorcontrib><creatorcontrib>Preisler-Adams, Sabine</creatorcontrib><creatorcontrib>Varon-Mateeva, Raymonda</creatorcontrib><creatorcontrib>Schoenbuchner, Ines</creatorcontrib><creatorcontrib>Fiebig, Britta</creatorcontrib><creatorcontrib>Heinritz, Wolfram</creatorcontrib><creatorcontrib>Schäfer, Dieter</creatorcontrib><creatorcontrib>Gevensleben, Heidrun</creatorcontrib><creatorcontrib>Caux-Moncoutier, Virginie</creatorcontrib><creatorcontrib>Fassy-Colcombet, Marion</creatorcontrib><creatorcontrib>Cornelis, François</creatorcontrib><creatorcontrib>Mazoyer, Sylvie</creatorcontrib><creatorcontrib>Léoné, Mélanie</creatorcontrib><creatorcontrib>Boutry-Kryza, Nadia</creatorcontrib><creatorcontrib>Hardouin, Agnès</creatorcontrib><creatorcontrib>Berthet, Pascaline</creatorcontrib><creatorcontrib>Muller, Danièle</creatorcontrib><creatorcontrib>Fricker, Jean-Pierre</creatorcontrib><creatorcontrib>Mortemousque, Isabelle</creatorcontrib><creatorcontrib>Pujol, Pascal</creatorcontrib><creatorcontrib>Ontario Cancer Genetics Network</creatorcontrib><creatorcontrib>kConFab Investigators</creatorcontrib><creatorcontrib>EMBRACE</creatorcontrib><creatorcontrib>GEMO Study Collaborators</creatorcontrib><creatorcontrib>CIMBA</creatorcontrib><creatorcontrib>Breast Cancer Family Registry</creatorcontrib><creatorcontrib>HEBON</creatorcontrib><creatorcontrib>SWE-BRCA</creatorcontrib><title>Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2</title><title>Breast cancer research : BCR</title><addtitle>Breast Cancer Res</addtitle><description>Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.</description><subject>Alleles</subject><subject>BRCA mutations</subject><subject>Breast cancer</subject><subject>Breast Neoplasms - classification</subject><subject>Breast Neoplasms - genetics</subject><subject>Breast Neoplasms - metabolism</subject><subject>Cancer</subject><subject>Cancer and Oncology</subject><subject>Cancer genetics</subject><subject>Cancer och onkologi</subject><subject>Cancer research</subject><subject>Clinical Medicine</subject><subject>Disease susceptibility</subject><subject>Female</subject><subject>Gene mutation</subject><subject>Genes, BRCA1</subject><subject>Genes, BRCA2</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Gynaecology, Obstetrics and Reproductive Medicine</subject><subject>Gynekologi, obstetrik och reproduktionsmedicin</subject><subject>Health aspects</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Klinisk medicin</subject><subject>Life Sciences</subject><subject>Medical and Health Sciences</subject><subject>Medicin och hälsovetenskap</subject><subject>Mutation</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Progesterone</subject><subject>Receptors, Estrogen - metabolism</subject><subject>Receptors, Progesterone - metabolism</subject><subject>Risk</subject><subject>SAMHÄLLSVETENSKAP</subject><subject>Single nucleotide polymorphisms</subject><subject>SOCIAL SCIENCES</subject><issn>1465-542X</issn><issn>1465-5411</issn><issn>1465-542X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNp9k99u0zAUxiMEYmMg3gBZ4oIbutlOnDhcIJXyZ5OKkBAg7izbOWkNTlxsp1NfjafDacvUIjZFVk5Oft937JOcLHtK8DkhvLxQ2ueY0XvZKSlKNmEF_X7_ID7JHoXwA2NSccYfZieUYpbXdXWa_Z65rnM9Uh5kiEjLXoNHYQgaVtEoY03cIGktWAhIekAyBKeNjNCgaxOXKA6dG0aFiptVYkyP3nyeTQmSfbONKOqGKKNJRbT03oAPr5CHMNgYUOtdh-IS0Mz1wflohg65Fl31awjRLGR0PoyJj64x7SgdH7b-F_Rx9qCVNsCT_f0s-_r-3ZfZ5WT-6cPVbDqf6JLTONFENbLIZd6UEjcAldJ5A4y0HFPJNedaQZnIChoolNJNJSnmvC3qGuMkyc-yyc43XMNqUGLlTSf9RjhpxD71M0UgWIFrVid-fitvh1VaKq1RQKmsFcEgJPBSFG1bClXVjeBEYdAlyRnJ7yy_SHYptdi6EYZrQhP_8lb-rfk2Fc4vhDWDqEq6tX-9wxPbQaOhj17aI9Xxm94sxcKtRZ7TkrGDest_ZJfTuTB9AN-J1MgKl5isScJf7Ot592tIX1l0Jv1s1soe3BBEzXKKCavHPj7fkQtpITm1LtXXIy2mBU92nBd3U5RjQsqiqhJ1_h8qXQ10RrseWpPyR7b7bWrvQvDQ3hyNYDGOnNiPXCKfHTbwhvs7Y_kfET0pww</recordid><startdate>20110101</startdate><enddate>20110101</enddate><creator>Mulligan, Anna Marie</creator><creator>Couch, Fergus J</creator><creator>Barrowdale, Daniel</creator><creator>Domchek, Susan M</creator><creator>Eccles, Diana</creator><creator>Nevanlinna, Heli</creator><creator>Ramus, Susan J</creator><creator>Robson, Mark</creator><creator>Sherman, Mark</creator><creator>Spurdle, Amanda B</creator><creator>Wappenschmidt, Barbara</creator><creator>Lee, Andrew</creator><creator>McGuffog, Lesley</creator><creator>Healey, Sue</creator><creator>Sinilnikova, Olga M</creator><creator>Janavicius, Ramunas</creator><creator>Hansen, Thomas vO</creator><creator>Nielsen, Finn C</creator><creator>Ejlertsen, Bent</creator><creator>Osorio, Ana</creator><creator>Muñoz-Repeto, Iván</creator><creator>Durán, Mercedes</creator><creator>Godino, Javier</creator><creator>Pertesi, Maroulio</creator><creator>Benítez, Javier</creator><creator>Peterlongo, Paolo</creator><creator>Manoukian, Siranoush</creator><creator>Peissel, Bernard</creator><creator>Zaffaroni, Daniela</creator><creator>Cattaneo, Elisa</creator><creator>Bonanni, Bernardo</creator><creator>Viel, Alessandra</creator><creator>Pasini, Barbara</creator><creator>Papi, Laura</creator><creator>Ottini, Laura</creator><creator>Savarese, Antonella</creator><creator>Bernard, Loris</creator><creator>Radice, Paolo</creator><creator>Hamann, Ute</creator><creator>Verheus, Martijn</creator><creator>Meijers-Heijboer, Hanne E J</creator><creator>Wijnen, Juul</creator><creator>Gómez García, Encarna B</creator><creator>Nelen, Marcel R</creator><creator>Kets, C Marleen</creator><creator>Seynaeve, Caroline</creator><creator>Tilanus-Linthorst, Madeleine M A</creator><creator>van der Luijt, Rob B</creator><creator>van Os, Theo</creator><creator>Rookus, Matti</creator><creator>Frost, Debra</creator><creator>Jones, J Louise</creator><creator>Evans, D Gareth</creator><creator>Lalloo, Fiona</creator><creator>Eeles, Ros</creator><creator>Izatt, Louise</creator><creator>Adlard, Julian</creator><creator>Davidson, Rosemarie</creator><creator>Cook, Jackie</creator><creator>Donaldson, Alan</creator><creator>Dorkins, Huw</creator><creator>Gregory, Helen</creator><creator>Eason, Jacqueline</creator><creator>Houghton, Catherine</creator><creator>Barwell, Julian</creator><creator>Side, Lucy E</creator><creator>McCann, Emma</creator><creator>Murray, Alex</creator><creator>Peock, Susan</creator><creator>Godwin, Andrew K</creator><creator>Schmutzler, Rita K</creator><creator>Rhiem, Kerstin</creator><creator>Engel, Christoph</creator><creator>Meindl, Alfons</creator><creator>Ruehl, Ina</creator><creator>Arnold, Norbert</creator><creator>Niederacher, Dieter</creator><creator>Sutter, Christian</creator><creator>Deissler, Helmut</creator><creator>Gadzicki, Dorothea</creator><creator>Kast, Karin</creator><creator>Preisler-Adams, Sabine</creator><creator>Varon-Mateeva, Raymonda</creator><creator>Schoenbuchner, Ines</creator><creator>Fiebig, Britta</creator><creator>Heinritz, Wolfram</creator><creator>Schäfer, Dieter</creator><creator>Gevensleben, Heidrun</creator><creator>Caux-Moncoutier, Virginie</creator><creator>Fassy-Colcombet, Marion</creator><creator>Cornelis, François</creator><creator>Mazoyer, Sylvie</creator><creator>Léoné, Mélanie</creator><creator>Boutry-Kryza, Nadia</creator><creator>Hardouin, Agnès</creator><creator>Berthet, Pascaline</creator><creator>Muller, Danièle</creator><creator>Fricker, Jean-Pierre</creator><creator>Mortemousque, Isabelle</creator><creator>Pujol, Pascal</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><scope>5PM</scope><scope>ABXSW</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>D8T</scope><scope>DG8</scope><scope>ZZAVC</scope><scope>F1U</scope><scope>AGCHP</scope><scope>D95</scope><orcidid>https://orcid.org/0000-0002-4678-2058</orcidid><orcidid>https://orcid.org/0000-0002-5438-8309</orcidid><orcidid>https://orcid.org/0000-0002-2135-0160</orcidid></search><sort><creationdate>20110101</creationdate><title>Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2</title><author>Mulligan, Anna Marie ; Couch, Fergus J ; Barrowdale, Daniel ; Domchek, Susan M ; Eccles, Diana ; Nevanlinna, Heli ; Ramus, Susan J ; Robson, Mark ; Sherman, Mark ; Spurdle, Amanda B ; Wappenschmidt, Barbara ; Lee, Andrew ; McGuffog, Lesley ; Healey, Sue ; Sinilnikova, Olga M ; Janavicius, Ramunas ; Hansen, Thomas vO ; Nielsen, Finn C ; Ejlertsen, Bent ; Osorio, Ana ; Muñoz-Repeto, Iván ; Durán, Mercedes ; Godino, Javier ; Pertesi, Maroulio ; Benítez, Javier ; Peterlongo, Paolo ; Manoukian, Siranoush ; Peissel, Bernard ; Zaffaroni, Daniela ; Cattaneo, Elisa ; Bonanni, Bernardo ; Viel, Alessandra ; Pasini, Barbara ; Papi, Laura ; Ottini, Laura ; Savarese, Antonella ; Bernard, Loris ; Radice, Paolo ; Hamann, Ute ; Verheus, Martijn ; Meijers-Heijboer, Hanne E J ; Wijnen, Juul ; Gómez García, Encarna B ; Nelen, Marcel R ; Kets, C Marleen ; Seynaeve, Caroline ; Tilanus-Linthorst, Madeleine M A ; van der Luijt, Rob B ; van Os, Theo ; Rookus, Matti ; Frost, Debra ; Jones, J Louise ; Evans, D Gareth ; Lalloo, Fiona ; Eeles, Ros ; Izatt, Louise ; Adlard, Julian ; Davidson, Rosemarie ; Cook, Jackie ; Donaldson, Alan ; Dorkins, Huw ; Gregory, Helen ; Eason, Jacqueline ; Houghton, Catherine ; Barwell, Julian ; Side, Lucy E ; McCann, Emma ; Murray, Alex ; Peock, Susan ; Godwin, Andrew K ; Schmutzler, Rita K ; Rhiem, Kerstin ; Engel, Christoph ; Meindl, Alfons ; Ruehl, Ina ; Arnold, Norbert ; Niederacher, Dieter ; Sutter, Christian ; Deissler, Helmut ; Gadzicki, Dorothea ; Kast, Karin ; Preisler-Adams, Sabine ; Varon-Mateeva, Raymonda ; Schoenbuchner, Ines ; Fiebig, Britta ; Heinritz, Wolfram ; Schäfer, Dieter ; Gevensleben, Heidrun ; Caux-Moncoutier, Virginie ; Fassy-Colcombet, Marion ; Cornelis, François ; Mazoyer, Sylvie ; Léoné, Mélanie ; Boutry-Kryza, Nadia ; Hardouin, Agnès ; Berthet, Pascaline ; Muller, Danièle ; Fricker, Jean-Pierre ; Mortemousque, Isabelle ; Pujol, Pascal</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c682t-c1bda43a3d6a0dee7bc3de51f802a8c88cbe66827ede4bbcd7a2088f499006a03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Alleles</topic><topic>BRCA mutations</topic><topic>Breast cancer</topic><topic>Breast Neoplasms - classification</topic><topic>Breast Neoplasms - genetics</topic><topic>Breast Neoplasms - metabolism</topic><topic>Cancer</topic><topic>Cancer and Oncology</topic><topic>Cancer genetics</topic><topic>Cancer och onkologi</topic><topic>Cancer research</topic><topic>Clinical Medicine</topic><topic>Disease susceptibility</topic><topic>Female</topic><topic>Gene mutation</topic><topic>Genes, BRCA1</topic><topic>Genes, BRCA2</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Gynaecology, Obstetrics and Reproductive Medicine</topic><topic>Gynekologi, obstetrik och reproduktionsmedicin</topic><topic>Health aspects</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Klinisk medicin</topic><topic>Life Sciences</topic><topic>Medical and Health Sciences</topic><topic>Medicin och hälsovetenskap</topic><topic>Mutation</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Progesterone</topic><topic>Receptors, Estrogen - metabolism</topic><topic>Receptors, Progesterone - metabolism</topic><topic>Risk</topic><topic>SAMHÄLLSVETENSKAP</topic><topic>Single nucleotide polymorphisms</topic><topic>SOCIAL SCIENCES</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mulligan, Anna Marie</creatorcontrib><creatorcontrib>Couch, Fergus J</creatorcontrib><creatorcontrib>Barrowdale, Daniel</creatorcontrib><creatorcontrib>Domchek, Susan M</creatorcontrib><creatorcontrib>Eccles, Diana</creatorcontrib><creatorcontrib>Nevanlinna, Heli</creatorcontrib><creatorcontrib>Ramus, Susan J</creatorcontrib><creatorcontrib>Robson, Mark</creatorcontrib><creatorcontrib>Sherman, Mark</creatorcontrib><creatorcontrib>Spurdle, Amanda B</creatorcontrib><creatorcontrib>Wappenschmidt, Barbara</creatorcontrib><creatorcontrib>Lee, Andrew</creatorcontrib><creatorcontrib>McGuffog, Lesley</creatorcontrib><creatorcontrib>Healey, Sue</creatorcontrib><creatorcontrib>Sinilnikova, Olga M</creatorcontrib><creatorcontrib>Janavicius, Ramunas</creatorcontrib><creatorcontrib>Hansen, Thomas vO</creatorcontrib><creatorcontrib>Nielsen, Finn C</creatorcontrib><creatorcontrib>Ejlertsen, Bent</creatorcontrib><creatorcontrib>Osorio, Ana</creatorcontrib><creatorcontrib>Muñoz-Repeto, Iván</creatorcontrib><creatorcontrib>Durán, Mercedes</creatorcontrib><creatorcontrib>Godino, Javier</creatorcontrib><creatorcontrib>Pertesi, Maroulio</creatorcontrib><creatorcontrib>Benítez, Javier</creatorcontrib><creatorcontrib>Peterlongo, Paolo</creatorcontrib><creatorcontrib>Manoukian, Siranoush</creatorcontrib><creatorcontrib>Peissel, Bernard</creatorcontrib><creatorcontrib>Zaffaroni, Daniela</creatorcontrib><creatorcontrib>Cattaneo, Elisa</creatorcontrib><creatorcontrib>Bonanni, Bernardo</creatorcontrib><creatorcontrib>Viel, Alessandra</creatorcontrib><creatorcontrib>Pasini, Barbara</creatorcontrib><creatorcontrib>Papi, Laura</creatorcontrib><creatorcontrib>Ottini, Laura</creatorcontrib><creatorcontrib>Savarese, Antonella</creatorcontrib><creatorcontrib>Bernard, Loris</creatorcontrib><creatorcontrib>Radice, Paolo</creatorcontrib><creatorcontrib>Hamann, Ute</creatorcontrib><creatorcontrib>Verheus, Martijn</creatorcontrib><creatorcontrib>Meijers-Heijboer, Hanne E J</creatorcontrib><creatorcontrib>Wijnen, Juul</creatorcontrib><creatorcontrib>Gómez García, Encarna B</creatorcontrib><creatorcontrib>Nelen, Marcel R</creatorcontrib><creatorcontrib>Kets, C Marleen</creatorcontrib><creatorcontrib>Seynaeve, Caroline</creatorcontrib><creatorcontrib>Tilanus-Linthorst, Madeleine M A</creatorcontrib><creatorcontrib>van der Luijt, Rob B</creatorcontrib><creatorcontrib>van Os, Theo</creatorcontrib><creatorcontrib>Rookus, Matti</creatorcontrib><creatorcontrib>Frost, Debra</creatorcontrib><creatorcontrib>Jones, J Louise</creatorcontrib><creatorcontrib>Evans, D Gareth</creatorcontrib><creatorcontrib>Lalloo, Fiona</creatorcontrib><creatorcontrib>Eeles, Ros</creatorcontrib><creatorcontrib>Izatt, Louise</creatorcontrib><creatorcontrib>Adlard, Julian</creatorcontrib><creatorcontrib>Davidson, Rosemarie</creatorcontrib><creatorcontrib>Cook, Jackie</creatorcontrib><creatorcontrib>Donaldson, Alan</creatorcontrib><creatorcontrib>Dorkins, Huw</creatorcontrib><creatorcontrib>Gregory, Helen</creatorcontrib><creatorcontrib>Eason, Jacqueline</creatorcontrib><creatorcontrib>Houghton, Catherine</creatorcontrib><creatorcontrib>Barwell, Julian</creatorcontrib><creatorcontrib>Side, Lucy E</creatorcontrib><creatorcontrib>McCann, Emma</creatorcontrib><creatorcontrib>Murray, Alex</creatorcontrib><creatorcontrib>Peock, Susan</creatorcontrib><creatorcontrib>Godwin, Andrew K</creatorcontrib><creatorcontrib>Schmutzler, Rita K</creatorcontrib><creatorcontrib>Rhiem, Kerstin</creatorcontrib><creatorcontrib>Engel, Christoph</creatorcontrib><creatorcontrib>Meindl, Alfons</creatorcontrib><creatorcontrib>Ruehl, Ina</creatorcontrib><creatorcontrib>Arnold, Norbert</creatorcontrib><creatorcontrib>Niederacher, Dieter</creatorcontrib><creatorcontrib>Sutter, Christian</creatorcontrib><creatorcontrib>Deissler, Helmut</creatorcontrib><creatorcontrib>Gadzicki, Dorothea</creatorcontrib><creatorcontrib>Kast, Karin</creatorcontrib><creatorcontrib>Preisler-Adams, Sabine</creatorcontrib><creatorcontrib>Varon-Mateeva, Raymonda</creatorcontrib><creatorcontrib>Schoenbuchner, Ines</creatorcontrib><creatorcontrib>Fiebig, Britta</creatorcontrib><creatorcontrib>Heinritz, Wolfram</creatorcontrib><creatorcontrib>Schäfer, Dieter</creatorcontrib><creatorcontrib>Gevensleben, Heidrun</creatorcontrib><creatorcontrib>Caux-Moncoutier, Virginie</creatorcontrib><creatorcontrib>Fassy-Colcombet, Marion</creatorcontrib><creatorcontrib>Cornelis, François</creatorcontrib><creatorcontrib>Mazoyer, Sylvie</creatorcontrib><creatorcontrib>Léoné, Mélanie</creatorcontrib><creatorcontrib>Boutry-Kryza, Nadia</creatorcontrib><creatorcontrib>Hardouin, Agnès</creatorcontrib><creatorcontrib>Berthet, Pascaline</creatorcontrib><creatorcontrib>Muller, Danièle</creatorcontrib><creatorcontrib>Fricker, Jean-Pierre</creatorcontrib><creatorcontrib>Mortemousque, Isabelle</creatorcontrib><creatorcontrib>Pujol, Pascal</creatorcontrib><creatorcontrib>Ontario Cancer Genetics Network</creatorcontrib><creatorcontrib>kConFab Investigators</creatorcontrib><creatorcontrib>EMBRACE</creatorcontrib><creatorcontrib>GEMO Study Collaborators</creatorcontrib><creatorcontrib>CIMBA</creatorcontrib><creatorcontrib>Breast Cancer Family Registry</creatorcontrib><creatorcontrib>HEBON</creatorcontrib><creatorcontrib>SWE-BRCA</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><collection>PubMed Central (Full Participant titles)</collection><collection>SWEPUB Linköpings universitet full text</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Freely available online</collection><collection>SWEPUB Linköpings universitet</collection><collection>SwePub Articles full text</collection><collection>SWEPUB Göteborgs universitet</collection><collection>SWEPUB Lunds universitet full text</collection><collection>SWEPUB Lunds universitet</collection><jtitle>Breast cancer research : BCR</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mulligan, Anna Marie</au><au>Couch, Fergus J</au><au>Barrowdale, Daniel</au><au>Domchek, Susan M</au><au>Eccles, Diana</au><au>Nevanlinna, Heli</au><au>Ramus, Susan J</au><au>Robson, Mark</au><au>Sherman, Mark</au><au>Spurdle, Amanda B</au><au>Wappenschmidt, Barbara</au><au>Lee, Andrew</au><au>McGuffog, Lesley</au><au>Healey, Sue</au><au>Sinilnikova, Olga M</au><au>Janavicius, Ramunas</au><au>Hansen, Thomas vO</au><au>Nielsen, Finn C</au><au>Ejlertsen, Bent</au><au>Osorio, Ana</au><au>Muñoz-Repeto, Iván</au><au>Durán, Mercedes</au><au>Godino, Javier</au><au>Pertesi, Maroulio</au><au>Benítez, Javier</au><au>Peterlongo, Paolo</au><au>Manoukian, Siranoush</au><au>Peissel, Bernard</au><au>Zaffaroni, Daniela</au><au>Cattaneo, Elisa</au><au>Bonanni, Bernardo</au><au>Viel, Alessandra</au><au>Pasini, Barbara</au><au>Papi, Laura</au><au>Ottini, Laura</au><au>Savarese, Antonella</au><au>Bernard, Loris</au><au>Radice, Paolo</au><au>Hamann, Ute</au><au>Verheus, Martijn</au><au>Meijers-Heijboer, Hanne E J</au><au>Wijnen, Juul</au><au>Gómez García, Encarna B</au><au>Nelen, Marcel R</au><au>Kets, C Marleen</au><au>Seynaeve, Caroline</au><au>Tilanus-Linthorst, Madeleine M A</au><au>van der Luijt, Rob B</au><au>van Os, Theo</au><au>Rookus, Matti</au><au>Frost, Debra</au><au>Jones, J Louise</au><au>Evans, D Gareth</au><au>Lalloo, Fiona</au><au>Eeles, Ros</au><au>Izatt, Louise</au><au>Adlard, Julian</au><au>Davidson, Rosemarie</au><au>Cook, Jackie</au><au>Donaldson, Alan</au><au>Dorkins, Huw</au><au>Gregory, Helen</au><au>Eason, Jacqueline</au><au>Houghton, Catherine</au><au>Barwell, Julian</au><au>Side, Lucy E</au><au>McCann, Emma</au><au>Murray, Alex</au><au>Peock, Susan</au><au>Godwin, Andrew K</au><au>Schmutzler, Rita K</au><au>Rhiem, Kerstin</au><au>Engel, Christoph</au><au>Meindl, Alfons</au><au>Ruehl, Ina</au><au>Arnold, Norbert</au><au>Niederacher, Dieter</au><au>Sutter, Christian</au><au>Deissler, Helmut</au><au>Gadzicki, Dorothea</au><au>Kast, Karin</au><au>Preisler-Adams, Sabine</au><au>Varon-Mateeva, Raymonda</au><au>Schoenbuchner, Ines</au><au>Fiebig, Britta</au><au>Heinritz, Wolfram</au><au>Schäfer, Dieter</au><au>Gevensleben, Heidrun</au><au>Caux-Moncoutier, Virginie</au><au>Fassy-Colcombet, Marion</au><au>Cornelis, François</au><au>Mazoyer, Sylvie</au><au>Léoné, Mélanie</au><au>Boutry-Kryza, Nadia</au><au>Hardouin, Agnès</au><au>Berthet, Pascaline</au><au>Muller, Danièle</au><au>Fricker, Jean-Pierre</au><au>Mortemousque, Isabelle</au><au>Pujol, Pascal</au><aucorp>Ontario Cancer Genetics Network</aucorp><aucorp>kConFab Investigators</aucorp><aucorp>EMBRACE</aucorp><aucorp>GEMO Study Collaborators</aucorp><aucorp>CIMBA</aucorp><aucorp>Breast Cancer Family Registry</aucorp><aucorp>HEBON</aucorp><aucorp>SWE-BRCA</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2</atitle><jtitle>Breast cancer research : BCR</jtitle><addtitle>Breast Cancer Res</addtitle><date>2011-01-01</date><risdate>2011</risdate><volume>13</volume><issue>6</issue><spage>R110</spage><epage>R110</epage><pages>R110-R110</pages><artnum>R110</artnum><issn>1465-542X</issn><issn>1465-5411</issn><eissn>1465-542X</eissn><abstract>Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>22053997</pmid><doi>10.1186/bcr3052</doi><orcidid>https://orcid.org/0000-0002-4678-2058</orcidid><orcidid>https://orcid.org/0000-0002-5438-8309</orcidid><orcidid>https://orcid.org/0000-0002-2135-0160</orcidid><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1465-542X
ispartof Breast cancer research : BCR, 2011-01, Vol.13 (6), p.R110-R110, Article R110
issn 1465-542X
1465-5411
1465-542X
language eng
recordid cdi_swepub_primary_oai_swepub_ki_se_540959
source MEDLINE; DOAJ Directory of Open Access Journals; SpringerLink Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; SWEPUB Freely available online; PubMed Central Open Access; Springer Nature OA Free Journals
subjects Alleles
BRCA mutations
Breast cancer
Breast Neoplasms - classification
Breast Neoplasms - genetics
Breast Neoplasms - metabolism
Cancer
Cancer and Oncology
Cancer genetics
Cancer och onkologi
Cancer research
Clinical Medicine
Disease susceptibility
Female
Gene mutation
Genes, BRCA1
Genes, BRCA2
Genetic aspects
Genetic Predisposition to Disease
Gynaecology, Obstetrics and Reproductive Medicine
Gynekologi, obstetrik och reproduktionsmedicin
Health aspects
Heterozygote
Humans
Klinisk medicin
Life Sciences
Medical and Health Sciences
Medicin och hälsovetenskap
Mutation
Polymorphism, Single Nucleotide
Progesterone
Receptors, Estrogen - metabolism
Receptors, Progesterone - metabolism
Risk
SAMHÄLLSVETENSKAP
Single nucleotide polymorphisms
SOCIAL SCIENCES
title Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-18T04%3A41%3A51IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_swepu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Common%20breast%20cancer%20susceptibility%20alleles%20are%20associated%20with%20tumour%20subtypes%20in%20BRCA1%20and%20BRCA2%20mutation%20carriers:%20results%20from%20the%20Consortium%20of%20Investigators%20of%20Modifiers%20of%20BRCA1/2&rft.jtitle=Breast%20cancer%20research%20:%20BCR&rft.au=Mulligan,%20Anna%20Marie&rft.aucorp=Ontario%20Cancer%20Genetics%20Network&rft.date=2011-01-01&rft.volume=13&rft.issue=6&rft.spage=R110&rft.epage=R110&rft.pages=R110-R110&rft.artnum=R110&rft.issn=1465-542X&rft.eissn=1465-542X&rft_id=info:doi/10.1186/bcr3052&rft_dat=%3Cgale_swepu%3EA480608849%3C/gale_swepu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=953201599&rft_id=info:pmid/22053997&rft_galeid=A480608849&rfr_iscdi=true