Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, 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, Truong, Therese, Laurent-Puig, Pierre, 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, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, 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, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian and Garcia-Closas, Montserrat (2014) Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast. PLoS Genetics, 10 4: 1-14. doi:10.1371/journal.pgen.1004285

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Author Sawyer, Elinor
Roylance, Rebecca
Petridis, Christos
Brook, Mark N.
Nowinski, Salpie
Papouli, Efterpi
Fletcher, Olivia
Pinder, Sarah
Hanby, Andrew
Kohut, Kelly
Gorman, Patricia
Caneppele, Michele
Peto, Julian
Silva, Isabel dos Santos
Johnson, Nichola
Swann, Ruth
Dwek, Miriam
Perkins, Katherine-Anne
Gillett, Cheryl
Houlston, Richard
Ross, Gillian
De Ieso, Paolo
Southey, Melissa C.
Hopper, John L.
Provenzano, Elena
Apicella, Carmel
Wesseling, Jelle
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
Truong, Therese
Laurent-Puig, Pierre
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
Dieffenbach, Aida Karina
Arndt, Volker
Stegmaier, Christa
Meindl, Alfons
Lichtner, Peter
Schmutzler, Rita K.
Lochmann, Magdalena
Brauch, Hiltrud
Fischer, Hans-Peter
Ko, Yon-Dschun
Nevanlinna, Heli
Muranen, Taru A.
Aittomaki, Kristiina
Blomqvist, Carl
Bogdanova, Natalia V.
Dork, Thilo
Lindblom, Annika
Margolin, Sara
Mannermaa, Arto
Kataja, Vesa
Kosma, Veli-Matti
Hartikainen, Jaana M.
Chenevix-Trench, Georgia
Lambrechts, Diether
Weltens, Caroline
Van Limbergen, Erik
Hatse, Sigrid
Chang-Claude, Jenny
Rudolph, Anja
Seibold, Petra
Flesch-Janys, Dieter
Radice, Paolo
Peterlongo, Paolo
Bonanni, Bernardo
Volorio, Sara
Giles, Graham G.
Severi, Gianluca
Baglietto, Laura
Mclean, Catriona A.
Haiman, Christopher A.
Henderson, Brian E.
Schumacher, Fredrick
Le Marchand, Loic
Simard, Jacques
Goldberg, Mark S.
Labreche, France
Dumont, Martine
Kristensen, Vessela
Winqvist, Robert
Pylkas, Katri
Jukkola-Vuorinen, Arja
Kauppila, Saila
Andrulis, Irene L.
Knight, Julia A.
Glendon, Gord
Mulligan, Anna Marie
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
van den Ouweland, Ans M. W.
van Deurzen, Carolien H. M.
Li, Jingmei
Czene, Kamila
Humphreys, Keith
Cox, Angela
Cross, Simon S.
Reed, Malcolm W. R.
Shah, Mitul
Jakubowska, Anna
Lubinski, Jan
Jaworska-Bieniek, Katarzyna
Durda, Katarzyna
Swerdlow, Anthony
Ashworth, Alan
Orr, Nicholas
Schoemaker, Minouk
Couch, Fergus J.
Hallberg, Emily
Gonzalez-Neira, Anna
Pita, Guillermo
Alonso, M. Rosario
Tessier, Daniel C.
Vincent, Daniel
Bacot, Francois
Bolla, Manjeet K.
Wang, Qin
Dennis, Joe
Michailidou, Kyriaki
Dunning, Alison M.
Hall, Per
Easton, Doug
Pharoah, Paul
Schmidt, Marjanka K.
Tomlinson, Ian
Garcia-Closas, Montserrat
Title Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast
Journal name PLoS Genetics   Check publisher's open access policy
ISSN 1553-7404
Publication date 2014
Sub-type Article (original research)
DOI 10.1371/journal.pgen.1004285
Open Access Status DOI
Volume 10
Issue 4
Start page 1
End page 14
Total pages 14
Place of publication San Francisco, CA, U.S.A.
Publisher Public Library of Science
Collection year 2015
Language eng
Subject 1311 Genetics
1312 Molecular Biology
1105 Dentistry
1306 Cancer Research
2716 Genetics (clinical)
2700 Medicine
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 = 6.0×10-10; P-het for ILC vs IDC ER+ tumors = 1.8×10-4). 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.
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Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
School of Medicine Publications
 
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Created: Thu, 26 Mar 2015, 08:59:35 EST by Matthew Lamb on behalf of School of Medicine