Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium

Broeks, Annegien, Schmidt, Marjanka K., Sherman, Mark E., Couch, Fergus J., Hopper, John L., Dite, Gillian S., Apicella, Carmel, Smith, Letitia D., Hammet, Fleur, Southey, Melissa C., Van 't Veer, Laura J., de Groot, Renate, Smit, Vincent T. H. B. M., Fasching, Peter A., Beckmann, Matthias W., Jud, Sebastian, Ekici, Arif B., Hartmann, Arndt, Hein, Alexander, Schulz-Wendtland, Ruediger, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sinn, Hans-Peter, Sohn, Christof, Tchatchou, Sandrine, Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Orsted, David D., Kaur-Knudsen, Diljit, Milne, Roger L., Perez, Jose I. Arias, Zamora, Pilar, Rodriguez, Primitiva, Benitez, Javier, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Hamann, Ute, Fischer, Hans-Peter, Bruning, Thomas, Pesch, Beate, Chang-Claude, Jenny, Wang-Gohrke, Shan, Bremer, Michael, Karstens, Johann H., Hillemanns, Peter, Dork, Thilo, Nevanlinna, Heli A., Heikkinen, Tuomas, Heikkila, Paeivi, Blomqvist, Carl, Aittomaki, Kristiina, Aaltonen, Kirsimari, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana M., Kataja, Vesa, Auvinen, Paeivi, Eskelinen, Matti, Soini, Ylermi, Chenevix-Trench, Georgia, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Lambrechts, Diether, Claes, Bart, Vandorpe, Thijs, Neven, Patrick, Wildiers, Hans, Flesch-Janys, Dieter, Hein, Rebecca, Loning, Thomas, Kosel, Matthew, Fredericksen, Zachary S., Wang, Xianshu, Giles, Graham G., Baglietto, Laura, Severi, Gianluca, McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Le Marchand, Loic, Kolonel, Laurence N., Alnaes, Grethe Grenaker, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Hunter, David J., Hankinson, Susan E., Andrulis, Irene L., Mulligan, Anna Marie, O'Malley, Frances P., Devilee, Peter, Huijts, Petra E. A., Tollenaar, Rob A. E. M., Van Asperen, Christi J., Seynaeve, Caroline S., Chanock, Stephen J., Lissowska, Jolanta, Brinton, Louise, Peplonska, Beata, Figueroa, Jonine, Yang, Xiaohong R., Hooning, Maartje J., Hollestelle, Antoinette, Oldenburg, Rogier A., Jager, Agnes, Kriege, Mieke, Ozturk, Bahar, van Leenders, Geert J. L. H., Hall, Per, Czene, Kamila, Humphreys, Keith, Liu, Jianjun, Cox, Angela, Connley, Daniel, Cramp, Helen E., Cross, Simon S., Balasubramanian, Sabapathy P., Reed, Malcolm W. R., Dunning, Alison M., Easton, Douglas F., Humphreys, Manjeet K., Caldas, Carlos, Blows, Fiona, Driver, Kristy, Provenzano, Elena, Lubinski, Jan, Jakubowska, Anna, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Gronwald, Jacek, Brennan, Paul, Sangrajrang, Suleeporn, Gaborieau, Valerie, Shen, Chen-Yang, Hsiung, Chia-Ni, Yu, Jyh-Cherng, Chen, Shou-Tung, Hsu, Giu-Cheng, Hou, Ming-Feng, Huang, Chiun-Sheng, Anton-Culver, Hoda, Ziogas, Argyrios, Pharoah, Paul D. P. and Garcia-Closas, Montserrat (2011) Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium. Human Molecular Genetics, 20 16: 3289-3303. doi:10.1093/hmg/ddr228

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Author Broeks, Annegien
Schmidt, Marjanka K.
Sherman, Mark E.
Couch, Fergus J.
Hopper, John L.
Dite, Gillian S.
Apicella, Carmel
Smith, Letitia D.
Hammet, Fleur
Southey, Melissa C.
Van 't Veer, Laura J.
de Groot, Renate
Smit, Vincent T. H. B. M.
Fasching, Peter A.
Beckmann, Matthias W.
Jud, Sebastian
Ekici, Arif B.
Hartmann, Arndt
Hein, Alexander
Schulz-Wendtland, Ruediger
Burwinkel, Barbara
Marme, Frederik
Schneeweiss, Andreas
Sinn, Hans-Peter
Sohn, Christof
Tchatchou, Sandrine
Bojesen, Stig E.
Nordestgaard, Borge G.
Flyger, Henrik
Orsted, David D.
Kaur-Knudsen, Diljit
Milne, Roger L.
Perez, Jose I. Arias
Zamora, Pilar
Rodriguez, Primitiva
Benitez, Javier
Brauch, Hiltrud
Justenhoven, Christina
Ko, Yon-Dschun
Hamann, Ute
Fischer, Hans-Peter
Bruning, Thomas
Pesch, Beate
Chang-Claude, Jenny
Wang-Gohrke, Shan
Bremer, Michael
Karstens, Johann H.
Hillemanns, Peter
Dork, Thilo
Nevanlinna, Heli A.
Heikkinen, Tuomas
Heikkila, Paeivi
Blomqvist, Carl
Aittomaki, Kristiina
Aaltonen, Kirsimari
Lindblom, Annika
Margolin, Sara
Mannermaa, Arto
Kosma, Veli-Matti
Kauppinen, Jaana M.
Kataja, Vesa
Auvinen, Paeivi
Eskelinen, Matti
Soini, Ylermi
Chenevix-Trench, Georgia
Spurdle, Amanda B.
Beesley, Jonathan
Chen, Xiaoqing
Holland, Helene
Lambrechts, Diether
Claes, Bart
Vandorpe, Thijs
Neven, Patrick
Wildiers, Hans
Flesch-Janys, Dieter
Hein, Rebecca
Loning, Thomas
Kosel, Matthew
Fredericksen, Zachary S.
Wang, Xianshu
Giles, Graham G.
Baglietto, Laura
Severi, Gianluca
McLean, Catriona
Haiman, Christopher A.
Henderson, Brian E.
Le Marchand, Loic
Kolonel, Laurence N.
Alnaes, Grethe Grenaker
Kristensen, Vessela
Borresen-Dale, Anne-Lise
Hunter, David J.
Hankinson, Susan E.
Andrulis, Irene L.
Mulligan, Anna Marie
O'Malley, Frances P.
Devilee, Peter
Huijts, Petra E. A.
Tollenaar, Rob A. E. M.
Van Asperen, Christi J.
Seynaeve, Caroline S.
Chanock, Stephen J.
Lissowska, Jolanta
Brinton, Louise
Peplonska, Beata
Figueroa, Jonine
Yang, Xiaohong R.
Hooning, Maartje J.
Hollestelle, Antoinette
Oldenburg, Rogier A.
Jager, Agnes
Kriege, Mieke
Ozturk, Bahar
van Leenders, Geert J. L. H.
Hall, Per
Czene, Kamila
Humphreys, Keith
Liu, Jianjun
Cox, Angela
Connley, Daniel
Cramp, Helen E.
Cross, Simon S.
Balasubramanian, Sabapathy P.
Reed, Malcolm W. R.
Dunning, Alison M.
Easton, Douglas F.
Humphreys, Manjeet K.
Caldas, Carlos
Blows, Fiona
Driver, Kristy
Provenzano, Elena
Lubinski, Jan
Jakubowska, Anna
Huzarski, Tomasz
Byrski, Tomasz
Cybulski, Cezary
Gorski, Bohdan
Gronwald, Jacek
Brennan, Paul
Sangrajrang, Suleeporn
Gaborieau, Valerie
Shen, Chen-Yang
Hsiung, Chia-Ni
Yu, Jyh-Cherng
Chen, Shou-Tung
Hsu, Giu-Cheng
Hou, Ming-Feng
Huang, Chiun-Sheng
Anton-Culver, Hoda
Ziogas, Argyrios
Pharoah, Paul D. P.
Garcia-Closas, Montserrat
Title Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 0964-6906
1460-2083
Publication date 2011-08
Sub-type Article (original research)
DOI 10.1093/hmg/ddr228
Volume 20
Issue 16
Start page 3289
End page 3303
Total pages 5
Place of publication Oxford, England, U.K.
Publisher Oxford University Press
Collection year 2012
Language eng
Formatted abstract
Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We investigated breast cancer risk associations of eight susceptibility loci identified in GWAS and two putative susceptibility loci in candidate genes in relation to specific breast tumor subtypes. Subtypes were defined by five markers (ER, PR, HER2, CK5/6, EGFR) and other pathological and clinical features. Analyses included up to 30 040 invasive breast cancer cases and 53 692 controls from 31 studies within the Breast Cancer Association Consortium. We confirmed previous reports of stronger associations with ER+ than ER− tumors for six of the eight loci identified in GWAS: rs2981582 (10q26) (P-heterogeneity = 6.1 × 10−18), rs3803662 (16q12) (P = 3.7 × 10−5), rs13281615 (8q24) (P = 0.002), rs13387042 (2q35) (P = 0.006), rs4973768 (3p24) (P = 0.003) and rs6504950 (17q23) (P = 0.002). The two candidate loci, CASP8 (rs1045485, rs17468277) and TGFB1 (rs1982073), were most strongly related with the risk of PR negative tumors (P = 5.1 × 10−6 and P = 4.1 × 10−4, respectively), as previously suggested. Four of the eight loci identified in GWAS were associated with triple negative tumors (P ≤ 0.016): rs3803662 (16q12), rs889312 (5q11), rs3817198 (11p15) and rs13387042 (2q35); however, only two of them (16q12 and 2q35) were associated with tumors with the core basal phenotype (P ≤ 0.002). These analyses are consistent with different biological origins of breast cancers, and indicate that tumor stratification might help in the identification and characterization of novel risk factors for breast cancer subtypes. This may eventually result in further improvements in prevention, early detection and treatment.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
 
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Created: Wed, 21 Dec 2011, 09:16:24 EST by Matthew Lamb on behalf of School of Medicine