Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia ORCID: 0000-0001-9387-7116, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam ORCID: 0000-0001-7184-2932, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard ORCID: 0000-0002-5268-0242, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle ORCID: 0000-0002-8940-2676, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal ORCID: 0000-0002-8359-518X, Truong, Therese ORCID: 0000-0002-2943-6786, Laurent-Puig, Pierre ORCID: 0000-0001-8475-5459, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann ORCID: 0000-0002-6129-1572, Dieffenbach, Aida Karina, Arndt, Volker ORCID: 0000-0001-9320-8684, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli ORCID: 0000-0002-0916-2976, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Bogdanova, Natalia V., Dork, Thilo ORCID: 0000-0002-9458-0282, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa ORCID: 0000-0003-4846-4843, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo ORCID: 0000-0001-6298-4111, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca ORCID: 0000-0001-7157-419X, Baglietto, Laura ORCID: 0000-0002-8193-7529, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick ORCID: 0000-0002-3073-7463, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri ORCID: 0000-0002-2449-0521, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette ORCID: 0000-0003-1166-1966, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei ORCID: 0000-0001-8587-7511, Czene, Kamila ORCID: 0000-0002-3233-5695, Humphreys, Keith, Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Lubinski, Jan ORCID: 0000-0003-2931-3003, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk ORCID: 0000-0001-8403-2234, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Pita, Guillermo ORCID: 0000-0003-2393-0510, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul ORCID: 0000-0001-8494-732X, Schmidt, Marjanka K., Tomlinson, Ian and Garcia-Closas, Montserrat ORCID: 0000-0003-1033-2650 (2014). Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast. PLoS Genet., 10 (4). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Full text not available from this repository.

Abstract

Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95% CI) for ILC = 1.13 (1.09-1.18), P = 6.0x10(-10); P-het for ILC vs IDC ER+ tumors = 1.8x10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P<0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although there is some heterogeneity between ER+ lobular and ER+ IDC tumors. These data provide evidence for overlapping, but distinct etiological pathways within ER+ breast cancer between morphological subtypes.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Sawyer, ElinorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roylance, RebeccaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Petridis, ChristosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brook, Mark N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nowinski, SalpieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Papouli, EfterpiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fletcher, OliviaUNSPECIFIEDorcid.org/0000-0001-9387-7116UNSPECIFIED
Pinder, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hanby, AndrewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kohut, KellyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gorman, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caneppele, MicheleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peto, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Silva, Isabel dos SantosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Johnson, NicholaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Swann, RuthUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dwek, MiriamUNSPECIFIEDorcid.org/0000-0001-7184-2932UNSPECIFIED
Perkins, Katherine-AnneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gillett, CherylUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Houlston, RichardUNSPECIFIEDorcid.org/0000-0002-5268-0242UNSPECIFIED
Ross, GillianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Ieso, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Provenzano, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Apicella, CarmelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wesseling, JelleUNSPECIFIEDorcid.org/0000-0002-8940-2676UNSPECIFIED
Cornelissen, StenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keeman, RenskeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jud, Sebastian M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ekici, Arif B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kerin, Michael J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marme, FederickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneeweiss, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sohn, ChristofUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guenel, PascalUNSPECIFIEDorcid.org/0000-0002-8359-518XUNSPECIFIED
Truong, ThereseUNSPECIFIEDorcid.org/0000-0002-2943-6786UNSPECIFIED
Laurent-Puig, PierreUNSPECIFIEDorcid.org/0000-0001-8475-5459UNSPECIFIED
Kerbrat, PierreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nordestgaard, Borge G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nielsen, Sune F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milne, Roger L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Perez, Jose Ignacio AriasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Menendez, PrimitivaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brenner, HermannUNSPECIFIEDorcid.org/0000-0002-6129-1572UNSPECIFIED
Dieffenbach, Aida KarinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arndt, VolkerUNSPECIFIEDorcid.org/0000-0001-9320-8684UNSPECIFIED
Stegmaier, ChristaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lichtner, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lochmann, MagdalenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauch, HiltrudUNSPECIFIEDorcid.org/0000-0001-7531-2736UNSPECIFIED
Fischer, Hans-PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ko, Yon-DschunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDorcid.org/0000-0002-0916-2976UNSPECIFIED
Muranen, Taru A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aittomaki, KristiinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blomqvist, CarlUNSPECIFIEDorcid.org/0000-0003-3041-1938UNSPECIFIED
Bogdanova, Natalia V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dork, ThiloUNSPECIFIEDorcid.org/0000-0002-9458-0282UNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kataja, VesaUNSPECIFIEDorcid.org/0000-0003-4846-4843UNSPECIFIED
Kosma, Veli-MattiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartikainen, Jaana M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Lambrechts, DietherUNSPECIFIEDorcid.org/0000-0002-3429-302XUNSPECIFIED
Weltens, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Van Limbergen, ErikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hatse, SigridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rudolph, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seibold, PetraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flesch-Janys, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radice, PaoloUNSPECIFIEDorcid.org/0000-0001-6298-4111UNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Bonanni, BernardoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Volorio, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Severi, GianlucaUNSPECIFIEDorcid.org/0000-0001-7157-419XUNSPECIFIED
Baglietto, LauraUNSPECIFIEDorcid.org/0000-0002-8193-7529UNSPECIFIED
Mclean, Catriona A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Henderson, Brian E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schumacher, FredrickUNSPECIFIEDorcid.org/0000-0002-3073-7463UNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simard, JacquesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldberg, Mark S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Labreche, FranceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dumont, MartineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kristensen, VesselaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pylkas, KatriUNSPECIFIEDorcid.org/0000-0002-2449-0521UNSPECIFIED
Jukkola-Vuorinen, ArjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kauppila, SailaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knight, Julia A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Glendon, GordUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mulligan, Anna MarieUNSPECIFIEDorcid.org/0000-0002-7239-5297UNSPECIFIED
Devillee, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tollenaar, Rob A. E. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seynaeve, Caroline M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kriege, MiekeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Figueroa, JonineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chanock, Stephen J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sherman, Mark E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hooning, Maartje J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hollestelle, AntoinetteUNSPECIFIEDorcid.org/0000-0003-1166-1966UNSPECIFIED
van den Ouweland, Ans M. W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Deurzen, Carolien H. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, JingmeiUNSPECIFIEDorcid.org/0000-0001-8587-7511UNSPECIFIED
Czene, KamilaUNSPECIFIEDorcid.org/0000-0002-3233-5695UNSPECIFIED
Humphreys, KeithUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDorcid.org/0000-0002-5138-1099UNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reed, Malcolm W. R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shah, MitulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDorcid.org/0000-0002-5650-0501UNSPECIFIED
Lubinski, JanUNSPECIFIEDorcid.org/0000-0003-2931-3003UNSPECIFIED
Jaworska-Bieniek, KatarzynaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Durda, KatarzynaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Swerdlow, AnthonyUNSPECIFIEDorcid.org/0000-0001-5550-4159UNSPECIFIED
Ashworth, AlanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orr, NicholasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoemaker, MinoukUNSPECIFIEDorcid.org/0000-0001-8403-2234UNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hallberg, EmilyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Neira, AnnaUNSPECIFIEDorcid.org/0000-0002-5421-2020UNSPECIFIED
Pita, GuillermoUNSPECIFIEDorcid.org/0000-0003-2393-0510UNSPECIFIED
Alonso, M. RosarioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tessier, Daniel C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vincent, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bacot, FrancoisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dennis, JoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, DougUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pharoah, PaulUNSPECIFIEDorcid.org/0000-0001-8494-732XUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDorcid.org/0000-0003-1033-2650UNSPECIFIED
URN: urn:nbn:de:hbz:38-442886
DOI: 10.1371/journal.pgen.1004285
Journal or Publication Title: PLoS Genet.
Volume: 10
Number: 4
Date: 2014
Publisher: PUBLIC LIBRARY SCIENCE
Place of Publication: SAN FRANCISCO
ISSN: 1553-7404
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; CANCER SUSCEPTIBILITY LOCI; COMMON VARIANTS; CONFER SUSCEPTIBILITY; MUTATION CARRIERS; 14Q24.1 RAD51L1; IDENTIFIES 3; RISK; METAANALYSIS; CHEMOTHERAPYMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/44288

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