Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Breast Cancer Research
Published in: Breast Cancer Research 1/2013

Open Access 01-02-2012 | Research article

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

Authors: Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Andrew Lee, Daniel Barrowdale, Sue Healey, Olga M Sinilnikova, Maria A Caligo, Niklas Loman, Katja Harbst, Annika Lindblom, Brita Arver, Richard Rosenquist, Per Karlsson, Kate Nathanson, Susan Domchek, Tim Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowowcka-Perłowska, Ana Osorio, Mercedes Durán, Raquel Andrés, Javier Benítez, Ute Hamann, Frans B Hogervorst, Theo A van Os, Senno Verhoef, Hanne EJ Meijers-Heijboer, Juul Wijnen, Encarna B Gómez Garcia, Marjolijn J Ligtenberg, Mieke Kriege, J Margriet Collée, Margreet GEM Ausems, Jan C Oosterwijk, Susan Peock, Debra Frost, Steve D Ellis, Radka Platte, Elena Fineberg, D Gareth Evans, Fiona Lalloo, Chris Jacobs, Ros Eeles, Julian Adlard, Rosemarie Davidson, Trevor Cole, Jackie Cook, Joan Paterson, Fiona Douglas, Carole Brewer, Shirley Hodgson, Patrick J Morrison, Lisa Walker, Mark T Rogers, Alan Donaldson, Huw Dorkins, Andrew K Godwin, Betsy Bove, Dominique Stoppa-Lyonnet, Claude Houdayer, Bruno Buecher, Antoine de Pauw, Sylvie Mazoyer, Alain Calender, Mélanie Léoné, Brigitte Bressac- de Paillerets, Olivier Caron, Hagay Sobol, Marc Frenay, Fabienne Prieur, Sandra Fert Ferrer, Isabelle Mortemousque, Saundra Buys, Mary Daly, Alexander Miron, Mary Beth Terry, John L Hopper, Esther M John, Melissa Southey, David Goldgar, Christian F Singer, Anneliese Fink-Retter, Muy-Kheng Tea, Daphne Geschwantler Kaulich, Thomas VO Hansen, Finn C Nielsen, Rosa B Barkardottir, Mia Gaudet, Tomas Kirchhoff, Vijai Joseph, Ana Dutra-Clarke, Kenneth Offit, Marion Piedmonte, Judy Kirk, David Cohn, Jean Hurteau, John Byron, James Fiorica, Amanda E Toland, Marco Montagna, Cristina Oliani, Evgeny Imyanitov, Claudine Isaacs, Laima Tihomirova, Ignacio Blanco, Conxi Lazaro, Alex Teulé, J Del Valle, Simon A Gayther, Kunle Odunsi, Jenny Gross, Beth Y Karlan, Edith Olah, Soo-Hwang Teo, Patricia A Ganz, Mary S Beattie, Cecelia M Dorfling, Elizabeth Jansen van Rensburg, Orland Diez, Ava Kwong, Rita K Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Simone Heidemann, Dieter Niederacher, Sabine Preisler-Adams, Dorothea Gadzicki, Raymonda Varon-Mateeva, Helmut Deissler, Andrea Gehrig, Christian Sutter, Karin Kast, Britta Fiebig, Dieter Schäfer, Trinidad Caldes, Miguel de la Hoya, Heli Nevanlinna, Taru A Muranen, Bernard Lespérance, Amanda B Spurdle, Susan L Neuhausen, Yuan C Ding, Xianshu Wang, Zachary Fredericksen, Vernon S Pankratz, Noralane M Lindor, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Bernardo Bonanni, Loris Bernard, Riccardo Dolcetti, Laura Papi, Laura Ottini, Paolo Radice, Mark H Greene, Jennifer T Loud, Irene L Andrulis, Hilmi Ozcelik, Anna Marie Mulligan, Gord Glendon, Mads Thomassen, Anne-Marie Gerdes, Uffe B Jensen, Anne-Bine Skytte, Torben A Kruse, Georgia Chenevix-Trench, Fergus J Couch, Jacques Simard, Douglas F Easton, CIMBA, SWE-BRCA, HEBON, EMBRACE, GEMO Collaborators Study, kConFab Investigators

Published in: Breast Cancer Research | Issue 1/2013

Login to get access

Abstract

Introduction

Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2).

Methods

To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework.

Results

Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049).

Conclusions

The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
Appendix
Available only for authorised users
Literature
1.
Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003, 72: 1117-1130. 10.1086/375033.CrossRefPubMedPubMedCentral
2.
Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC, Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu M, Liang X, Hummer AJ, Sima C, Bernstein JL: Variation of breast cancer risk among BRCA1/2 carriers. JAMA. 2008, 299: 194-201. 10.1001/jama.2007.55-a.CrossRefPubMedPubMedCentral
3.
Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kampjarvi K, Nevanlinna H, Simard J, Beesley J, Chen X, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, et al: Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008, 82: 937-948. 10.1016/j.ajhg.2008.02.008.CrossRefPubMedPubMedCentral
4.
Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X, Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, et al: Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2009, 18: 4442-4456. 10.1093/hmg/ddp372.CrossRefPubMedPubMedCentral
5.
Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, et al: Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res. 2010, 70: 9742-9754. 10.1158/0008-5472.CAN-10-1907.CrossRefPubMedPubMedCentral
6.
Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M, Pensotti V, Pasini B, Dolcetti R, Giannini G, Laura PA, Varesco L, Radice P, Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Birk JU, Cruger DG, et al: Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2011, 20: 3304-3321. 10.1093/hmg/ddr226.CrossRefPubMedPubMedCentral
7.
Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S, Cook M, Oliver C, Frost D, Mayes R, Evans DG, Eeles R, Paterson J, Brewer C, McGuffog L, Antoniou AC, Stoppa-Lyonnet D, Sinilnikova OM, Barjhoux L, Frenay M, Michel C, Leroux D, Dreyfus H, Toulas C, Gladieff L, Uhrhammer N, Bignon YJ, Meindl A, Arnold N, Varon-Mateeva R, et al: Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2010, 19: 2859-2868. 10.1158/1055-9965.EPI-10-0517.CrossRefPubMedPubMedCentral
8.
Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H, et al: Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2010, 103: 105-116.CrossRefPubMed
9.
Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, et al: A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet. 2010, 42: 885-892. 10.1038/ng.669.CrossRefPubMedPubMedCentral
10.
Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segre AV, McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Gauthier-Villars M, Sobol H, Longy M, Frenay M, Gemo SC, Hogervorst FB, Rookus MA, Collee JM, Hoogerbrugge N, van Roozendaal KE, Piedmonte M, Rubinstein W, Nerenstone S, Van Le L, Blank SV, et al: Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet. 2010, 6: e1001183-10.1371/journal.pgen.1001183.CrossRefPubMedPubMedCentral
11.
Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, Barjhoux L, Verny-Pierre C, McGuffog L, Healey S, Szabo C, Greene MH, Mai PL, Andrulis IL, Thomassen M, Gerdes AM, Caligo MA, Friedman E, Laitman Y, Kaufman B, Paluch SS, Borg A, Karlsson P, Askmalm MS, Bustinza GB, Nathanson K, Domchek SM, Rebbeck TR, Benitez J, Hamann U, et al: Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet. 2011, 20: 4732-4747. 10.1093/hmg/ddr388.CrossRefPubMedPubMedCentral
12.
Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, Apicella C, Smith LD, Hammet F, Southey MC, van 't Veer LJ, de Groot R, Smit VT, Fasching PA, Beckmann MW, Jud S, Ekici AB, Hartmann A, Hein A, Schulz-Wendtland R, Burwinkel B, Marme F, Schneeweiss A, Sinn HP, Sohn C, Tchatchou S, Bojesen SE, Nordestgaard BG, Flyger H, Orsted DD, et al: Low penetrance breast cancer susceptibility loci are associated with specific breast tumour subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011, 20: 3289-3303. 10.1093/hmg/ddr228.CrossRefPubMedPubMedCentral
13.
Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson DA, Bojesen SE, Nordestgaard BG, Axelsson CK, Arias JI, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Zamora P, Brauch H, Justenhoven C, Hamann U, Ko YD, Bruening T, Haas S, Dork T, Schurmann P, Hillemanns P, Bogdanova N, Bremer M, Karstens JH, Fagerholm R, Aaltonen K, Aittomaki K, et al: Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet. 2008, 4: e1000054-10.1371/journal.pgen.1000054.CrossRefPubMedPubMedCentral
14.
Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Robson M, Sherman M, Spurdle AB, Wappenschmidt B, Lee A, McGuffog L, Healey S, Sinilnikova OM, Janavicius R, Hansen TV, Nielsen FC, Ejlertsen B, Osorio A, Munoz-Repeto I, Duran M, Godino J, Pertesi M, Benitez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, et al: 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. Breast Cancer Res. 2011, 13: R110-10.1186/bcr3052.CrossRefPubMedPubMedCentral
15.
Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, Seal S, Ghoussaini M, Hines S, Healey CS, Hughes D, Warren-Perry M, Tapper W, Eccles D, Evans DG, Hooning M, Schutte M, van den Ouweland A, Houlston R, Ross G, Langford C, Pharoah PD, Stratton MR, Dunning AM, Rahman N, Easton DF: Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet. 2010, 42: 504-507. 10.1038/ng.586.CrossRefPubMedPubMedCentral
16.
Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Driver K, Johnson N, Orr N, dos Santos Silva I, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON), Hall P, Czene K, Irwanto A, Liu J, Nevanlinna H, Aittomäki K, Blomqvist C, Meindl A, et al: Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet. 2012,
17.
Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, Walker K, Zelenika D, Gut I, Heath S, Palles C, Coupland B, Broderick P, Schoemaker M, Jones M, Williamson J, Chilcott-Burns S, Tomczyk K, Simpson G, Jacobs KB, Chanock SJ, Hunter DJ, Tomlinson IP, Swerdlow A, Ashworth A, Ross G, dos Santos Silva I, Lathrop M, Houlston RS, Peto J: Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst. 2011, 103: 425-435. 10.1093/jnci/djq563.CrossRefPubMed
18.
Antoniou AC, Sinilnikova OM, Simard J, Leone M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L, Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ, Rebbeck TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, et al: RAD51 135G-- > C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet. 2007, 81: 1186-1200. 10.1086/522611.CrossRefPubMedPubMedCentral
19.
Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE: An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res. 2007, 9: 104-10.1186/bcr1670.CrossRefPubMedPubMedCentral
20.
Lange K, Weeks D, Boehnke M: Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol. 1988, 5: 471-472. 10.1002/gepi.1370050611.CrossRefPubMed
21.
Barnes D, Lee A, EMBRACE Investigators, kConFab Investigators, Easton D, Antoniou AC: Evaluation of association methods for analysing modiers of disease risk in carriers of high-risk mutations. Genet Epidemiol. 2011,
22.
Rennert G, Bisland-Naggan S, Barnett-Griness O, Bar-Joseph N, Zhang S, Rennert HS, Narod SA: Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med. 2007, 357: 115-123. 10.1056/NEJMoa070608.CrossRefPubMed
23.
Buisson M, Anczukow O, Zetoune AB, Ware MD, Mazoyer S: The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum Mutat. 2006, 27: 1024-1029. 10.1002/humu.20384.CrossRefPubMed
24.
Mazoyer S, Puget N, Perrin-Vidoz L, Lynch HT, Serova-Sinilnikova OM, Lenoir GM: A BRCA1 nonsense mutation causes exon skipping. Am J Hum Genet. 1998, 62: 713-715. 10.1086/301768.CrossRefPubMedPubMedCentral
25.
Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S: The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet. 2002, 11: 2805-2814. 10.1093/hmg/11.23.2805.CrossRefPubMed
26.
Anczukow O, Ware MD, Buisson M, Zetoune AB, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S: Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?. Hum Mutat. 2008, 29: 65-73. 10.1002/humu.20590.CrossRefPubMed
27.
Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, Risch HA, Eyfjord JE, Hopper JL, Southey MC, Olsson H, Johannsson O, Borg A, Passini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tryggvadottir L, Syrjakoski K, Kallioniemi OP, Eerola H, Nevanlinna H, Pharoah PD, et al: The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008, 98: 1457-1466. 10.1038/sj.bjc.6604305.CrossRefPubMedPubMedCentral
28.
Boos DD: On generalised score tests. Am Stat. 1992, 46: 327-333. 10.2307/2685328.
29.
Antoniou AC, Chenevix-Trench G: Common genetic variants and cancer risk in Mendelian cancer syndromes. Curr Opin Genet Dev. 2010, 20: 299-307. 10.1016/j.gde.2010.03.010.CrossRefPubMed
30.
Stevens KN, Vachon CM, Lee AM, Slager S, Lesnick T, Olswold C, Fasching PA, Miron P, Eccles D, Carpenter JE, Godwin AK, Ambrosone C, Winqvist R, Brauch H, Schmidt MK, Cox A, Cross SS, Sawyer E, Hartmann A, Beckmann MW, Schulz-Wendtland R, Ekici AB, Tapper WJ, Gerty SM, Durcan L, Graham N, Hein R, Nickels S, Flesch-Janys D, Heinz J, et al: Common breast cancer susceptibility loci are associated with triple negative breast cancer. Cancer Res. 2011, 71: 6240-6249. 10.1158/0008-5472.CAN-11-1266.CrossRefPubMedPubMedCentral
31.
Suva LJ, Winslow GA, Wettenhall RE, Hammonds RG, Moseley JM, Diefenbach-Jagger H, Rodda CP, Kemp BE, Rodriguez H, Chen EY, et al: A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression. Science. 1987, 237: 893-896. 10.1126/science.3616618.CrossRefPubMed
32.
Asadi F, Kukreja S: Parathyroid hormone-related protein in prostate cancer. Crit Rev Eukaryot Gene Expr. 2005, 15: 15-28. 10.1615/CritRevEukaryotGeneExpr.v15.i1.20.CrossRefPubMed
33.
Linforth R, Anderson N, Hoey R, Nolan T, Downey S, Brady G, Ashcroft L, Bundred N: Coexpression of parathyroid hormone related protein and its receptor in early breast cancer predicts poor patient survival. Clin Cancer Res. 2002, 8: 3172-3177.PubMed
34.
Lindstrom S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham NJ, Loos RJ, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, Silva IS, Liu J, Eriksson L, Couch FJ, Stone J, Apicella C, Czene K, et al: Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet. 2011, 43: 185-187. 10.1038/ng.760.CrossRefPubMedPubMedCentral
35.
Mitchell G, Antoniou AC, Warren R, Peock S, Brown J, Davies R, Mattison J, Cook M, Warsi I, Evans DG, Eccles D, Douglas F, Paterson J, Hodgson S, Izatt L, Cole T, Burgess L, Eeles R, Easton DF: Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res. 2006, 66: 1866-1872. 10.1158/0008-5472.CAN-05-3368.CrossRefPubMed
36.
Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, et al: Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet. 2010, 42: 880-884. 10.1038/ng.666.CrossRefPubMedPubMedCentral
37.
Goode EL, Chenevix-Trench G, Song H, Ramus SJ, Notaridou M, Lawrenson K, Widschwendter M, Vierkant RA, Larson MC, Kjaer SK, Birrer MJ, Berchuck A, Schildkraut J, Tomlinson I, Kiemeney LA, Cook LS, Gronwald J, Garcia-Closas M, Gore ME, Campbell I, Whittemore AS, Sutphen R, Phelan C, Anton-Culver H, Pearce CL, Lambrechts D, Rossing MA, Chang-Claude J, Moysich KB, Goodman MT, et al: A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet. 2010, 42: 874-879. 10.1038/ng.668.CrossRefPubMedPubMedCentral
38.
Song H, Ramus SJ, Tyrer J, Bolton KL, Gentry-Maharaj A, Wozniak E, Anton-Culver H, Chang-Claude J, Cramer DW, Dicioccio R, Dork T, Goode EL, Goodman MT, Schildkraut JM, Sellers T, Baglietto L, Beckmann MW, Beesley J, Blaakaer J, Carney ME, Chanock S, Chen Z, Cunningham JM, Dicks E, Doherty JA, Durst M, Ekici AB, Fenstermacher D, Fridley BL, Giles G, et al: A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet. 2009, 41: 996-1000. 10.1038/ng.424.CrossRefPubMedPubMedCentral
39.
Milne RL, Antoniou AC: Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Ann Oncol. 2011, 22 (Suppl 1): i11-i17.CrossRefPubMed
Metadata
Title
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers
Authors
Antonis C Antoniou
Karoline B Kuchenbaecker
Penny Soucy
Jonathan Beesley
Xiaoqing Chen
Lesley McGuffog
Andrew Lee
Daniel Barrowdale
Sue Healey
Olga M Sinilnikova
Maria A Caligo
Niklas Loman
Katja Harbst
Annika Lindblom
Brita Arver
Richard Rosenquist
Per Karlsson
Kate Nathanson
Susan Domchek
Tim Rebbeck
Anna Jakubowska
Jan Lubinski
Katarzyna Jaworska
Katarzyna Durda
Elżbieta Złowowcka-Perłowska
Ana Osorio
Mercedes Durán
Raquel Andrés
Javier Benítez
Ute Hamann
Frans B Hogervorst
Theo A van Os
Senno Verhoef
Hanne EJ Meijers-Heijboer
Juul Wijnen
Encarna B Gómez Garcia
Marjolijn J Ligtenberg
Mieke Kriege
J Margriet Collée
Margreet GEM Ausems
Jan C Oosterwijk
Susan Peock
Debra Frost
Steve D Ellis
Radka Platte
Elena Fineberg
D Gareth Evans
Fiona Lalloo
Chris Jacobs
Ros Eeles
Julian Adlard
Rosemarie Davidson
Trevor Cole
Jackie Cook
Joan Paterson
Fiona Douglas
Carole Brewer
Shirley Hodgson
Patrick J Morrison
Lisa Walker
Mark T Rogers
Alan Donaldson
Huw Dorkins
Andrew K Godwin
Betsy Bove
Dominique Stoppa-Lyonnet
Claude Houdayer
Bruno Buecher
Antoine de Pauw
Sylvie Mazoyer
Alain Calender
Mélanie Léoné
Brigitte Bressac- de Paillerets
Olivier Caron
Hagay Sobol
Marc Frenay
Fabienne Prieur
Sandra Fert Ferrer
Isabelle Mortemousque
Saundra Buys
Mary Daly
Alexander Miron
Mary Beth Terry
John L Hopper
Esther M John
Melissa Southey
David Goldgar
Christian F Singer
Anneliese Fink-Retter
Muy-Kheng Tea
Daphne Geschwantler Kaulich
Thomas VO Hansen
Finn C Nielsen
Rosa B Barkardottir
Mia Gaudet
Tomas Kirchhoff
Vijai Joseph
Ana Dutra-Clarke
Kenneth Offit
Marion Piedmonte
Judy Kirk
David Cohn
Jean Hurteau
John Byron
James Fiorica
Amanda E Toland
Marco Montagna
Cristina Oliani
Evgeny Imyanitov
Claudine Isaacs
Laima Tihomirova
Ignacio Blanco
Conxi Lazaro
Alex Teulé
J Del Valle
Simon A Gayther
Kunle Odunsi
Jenny Gross
Beth Y Karlan
Edith Olah
Soo-Hwang Teo
Patricia A Ganz
Mary S Beattie
Cecelia M Dorfling
Elizabeth Jansen van Rensburg
Orland Diez
Ava Kwong
Rita K Schmutzler
Barbara Wappenschmidt
Christoph Engel
Alfons Meindl
Nina Ditsch
Norbert Arnold
Simone Heidemann
Dieter Niederacher
Sabine Preisler-Adams
Dorothea Gadzicki
Raymonda Varon-Mateeva
Helmut Deissler
Andrea Gehrig
Christian Sutter
Karin Kast
Britta Fiebig
Dieter Schäfer
Trinidad Caldes
Miguel de la Hoya
Heli Nevanlinna
Taru A Muranen
Bernard Lespérance
Amanda B Spurdle
Susan L Neuhausen
Yuan C Ding
Xianshu Wang
Zachary Fredericksen
Vernon S Pankratz
Noralane M Lindor
Paolo Peterlongo
Siranoush Manoukian
Bernard Peissel
Daniela Zaffaroni
Bernardo Bonanni
Loris Bernard
Riccardo Dolcetti
Laura Papi
Laura Ottini
Paolo Radice
Mark H Greene
Jennifer T Loud
Irene L Andrulis
Hilmi Ozcelik
Anna Marie Mulligan
Gord Glendon
Mads Thomassen
Anne-Marie Gerdes
Uffe B Jensen
Anne-Bine Skytte
Torben A Kruse
Georgia Chenevix-Trench
Fergus J Couch
Jacques Simard
Douglas F Easton
CIMBA, SWE-BRCA
HEBON
EMBRACE
GEMO Collaborators Study
kConFab Investigators
Publication date
01-02-2012
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 1/2013
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr3121

Other articles of this Issue 1/2013

Breast Cancer Research 1/2013 Go to the issue

Research article

Premenopausal serum androgens and breast cancer risk: a nested case-control study

Research article

Expression of stem cell and epithelial-mesenchymal transition markers in primary breast cancer patients with circulating tumor cells

Research article

Assessment of circulating tumor cells and serum markers for progression-free survival prediction in metastatic breast cancer: a prospective observational study

Research article

Expression profiling of cancerous and normal breast tissues identifies microRNAs that are differentially expressed in serum from patients with (metastatic) breast cancer and healthy volunteers

Research article

Prognostic value of proliferation assay in the luminal, HER2-positive, and triple-negative biologic classes of breast cancer

Editorial

Steps solidifying a role for SEPT9 in breast cancer suggest that greater strides are needed
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
Image Credits