Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Jul 2;97(1):22-34.
doi: 10.1016/j.ajhg.2015.05.002. Epub 2015 Jun 11.

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

Hatef Darabi  1 Karen McCue  2 Jonathan Beesley  2 Kyriaki Michailidou  3 Silje Nord  4 Siddhartha Kar  5 Keith Humphreys  1 Deborah Thompson  3 Maya Ghoussaini  5 Manjeet K Bolla  3 Joe Dennis  3 Qin Wang  3 Sander Canisius  6 Christopher G Scott  7 Carmel Apicella  8 John L Hopper  8 Melissa C Southey  9 Jennifer Stone  10 Annegien Broeks  6 Marjanka K Schmidt  6 Rodney J Scott  11 Artitaya Lophatananon  12 Kenneth Muir  13 Matthias W Beckmann  14 Arif B Ekici  15 Peter A Fasching  16 Katharina Heusinger  14 Isabel Dos-Santos-Silva  17 Julian Peto  17 Ian Tomlinson  18 Elinor J Sawyer  19 Barbara Burwinkel  20 Frederik Marme  21 Pascal Guénel  22 Thérèse Truong  22 Stig E Bojesen  23 Henrik Flyger  24 Javier Benitez  25 Anna González-Neira  26 Hoda Anton-Culver  27 Susan L Neuhausen  28 Volker Arndt  29 Hermann Brenner  30 Christoph Engel  31 Alfons Meindl  32 Rita K Schmutzler  33 German Consortium of Hereditary Breast and Ovarian CancerNorbert Arnold  34 Hiltrud Brauch  35 Ute Hamann  36 Jenny Chang-Claude  37 Sofia Khan  38 Heli Nevanlinna  38 Hidemi Ito  39 Keitaro Matsuo  40 Natalia V Bogdanova  41 Thilo Dörk  42 Annika Lindblom  43 Sara Margolin  44 kConFab/AOCS InvestigatorsVeli-Matti Kosma  45 Arto Mannermaa  45 Chiu-Chen Tseng  46 Anna H Wu  46 Giuseppe Floris  47 Diether Lambrechts  48 Anja Rudolph  37 Paolo Peterlongo  49 Paolo Radice  50 Fergus J Couch  51 Celine Vachon  7 Graham G Giles  52 Catriona McLean  53 Roger L Milne  52 Pierre-Antoine Dugué  54 Christopher A Haiman  46 Gertraud Maskarinec  55 Christy Woolcott  56 Brian E Henderson  46 Mark S Goldberg  57 Jacques Simard  58 Soo H Teo  59 Shivaani Mariapun  59 Åslaug Helland  60 Vilde Haakensen  61 Wei Zheng  62 Alicia Beeghly-Fadiel  62 Rulla Tamimi  63 Arja Jukkola-Vuorinen  64 Robert Winqvist  65 Irene L Andrulis  66 Julia A Knight  67 Peter Devilee  68 Robert A E M Tollenaar  69 Jonine Figueroa  70 Montserrat García-Closas  71 Kamila Czene  1 Maartje J Hooning  72 Madeleine Tilanus-Linthorst  73 Jingmei Li  74 Yu-Tang Gao  75 Xiao-Ou Shu  62 Angela Cox  76 Simon S Cross  77 Robert Luben  78 Kay-Tee Khaw  79 Ji-Yeob Choi  80 Daehee Kang  81 Mikael Hartman  82 Wei Yen Lim  83 Maria Kabisch  36 Diana Torres  84 Anna Jakubowska  85 Jan Lubinski  85 James McKay  86 Suleeporn Sangrajrang  87 Amanda E Toland  88 Drakoulis Yannoukakos  89 Chen-Yang Shen  90 Jyh-Cherng Yu  91 Argyrios Ziogas  27 Minouk J Schoemaker  92 Anthony Swerdlow  93 Anne-Lise Borresen-Dale  94 Vessela Kristensen  95 Juliet D French  2 Stacey L Edwards  2 Alison M Dunning  5 Douglas F Easton  96 Per Hall  1 Georgia Chenevix-Trench  97
Affiliations
Free PMC article

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

Hatef Darabi et al. Am J Hum Genet. .
Free PMC article

Abstract

Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association signal by genotyping 428 SNPs across the region in 89,050 European and 12,893 Asian case and control subjects from the Breast Cancer Association Consortium. We identified four independent sets of correlated, highly trait-associated variants (iCHAVs), three of which were located within ZNF365. The most strongly risk-associated SNP, rs10995201 in iCHAV1, showed clear evidence of association with both estrogen receptor (ER)-positive (OR = 0.85 [0.82-0.88]) and ER-negative (OR = 0.87 [0.82-0.91]) disease, and was also the SNP most strongly associated with percent mammographic density. iCHAV2 (lead SNP, chr10: 64,258,684:D) and iCHAV3 (lead SNP, rs7922449) were also associated with ER-positive (OR = 0.93 [0.91-0.95] and OR = 1.06 [1.03-1.09]) and ER-negative (OR = 0.95 [0.91-0.98] and OR = 1.08 [1.04-1.13]) disease. There was weaker evidence for iCHAV4, located 5' of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.96]). We found 12, 17, 18, and 2 candidate causal SNPs for breast cancer in iCHAVs 1-4, respectively. Chromosome conformation capture analysis showed that iCHAV2 interacts with the ZNF365 and NRBF2 (more than 600 kb away) promoters in normal and cancerous breast epithelial cells. Luciferase assays did not identify SNPs that affect transactivation of ZNF365, but identified a protective haplotype in iCHAV2, associated with silencing of the NRBF2 promoter, implicating this gene in the etiology of breast cancer.

Figures

Figure 1
Figure 1
Association Results for Overall Breast Cancer Risk Directly genotyped SNPs are shown as filled black circles, and imputed SNPs (r2 > 0.3, MAF > 0.02) are shown as open red circles, plotted as the negative log of the p value against relative position across the locus. (A) A schematic of the gene structures is shown. iCHAVs, encompassing all SNPs with a likelihood ratio of < 1:100 compared with the most significant SNP, are labeled and are shown as gray regions. The pattern of LD for all SNPs from the 1000 Genomes Project CEU population is shown as a plot of pairwise r2 values using a greyscale, where white and black signify r2 = 0 and 1, respectively. The dashed purple line represents genome-wide significance (p < 5 × 10−8). (B) iCHAV4 is shown in more detail.
Figure 2
Figure 2
Chromatin Interactions with the ZNF365 and NRBF2 Promoters at the 10q21.2 Locus (A) 10q21.2 locus showing the distances from iCHAVs 1–4 and the nearest genes. (B–G) Chromatin interaction frequencies were plotted at the corresponding chromosomal position for MCF7 (B and E), MCF10A (C and F), and Bre80 (D and G) for the ZNF365 and NRBF2 promoters, respectively. iCHAV2 is marked in green, iCHAV1 (which physically overlaps iCHAV3) in blue, and iCHAV3 in red. Representative graphs are shown (N = 3) and error bars denote SD.
Figure 3
Figure 3
Chromatin Marks in Breast Cells in iCHAVs at 10q21.2 The region encompassing 1 Mb at 10q21.2 is shown in (A). Candidate causal SNPs lying within iCHAVs 1–4 are shown as tick marks in matching colors to iCHAVs. DNaseI hypersensitive sites found in mammary cell types from ENCODE are depicted under the gene schematics. iCHAV2 is shown in (B). ENCODE tracks are shown for mammary DNaseI HS, histone modification ChIP-seq, and transcription factor ChIP-seq. The cloned PRE2 region for the iCHAV2 reporter construct is marked.
Figure 4
Figure 4
Protective Haplotype of iCHAV2 Silences NRBF2 Promoter Activity Both haplotypes of the iCHAV2 PRE2 were cloned upstream of NRBF2- and ZNF365-promoter-driven luciferase reporters. Cells were transiently transfected with the common (PRE2) and the protective (Prot Hap) haplotype constructs and assayed for luciferase activity 24 hr later. Results for the NRBF2 and ZNF365 promoters in Bre80 cells are shown in (A) and (B) and results for NRBF2 and ZNF365 promoters in MCF7 cells are shown in (C) and (D). Error bars denote 95% confidence intervals from three independent experiments performed in triplicate. p values were determined by two-way ANOVA followed by Dunnett’s multiple comparisons test (∗∗p < 0.01, p < 0.05) on log transformed data; for ease of interpretation, back-transformed data have been graphed.

Similar articles

  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
    Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S, Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomäki K, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Arun BK, Arver B, Bacot F, Barrowdale D, Baynes C, Beeghly-Fadiel A, Benitez J, Bermisheva M, Blomqvist C, Blot WJ, Bogdanova NV, Bojesen SE, Bonanni B, Borresen-Dale AL, Brand JS, Brauch H, Brennan P, Brenner H, Broeks A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldes T, Campbell I, Carpenter J, Chang-Claude J, Choi JY, Claes KB, Clarke C, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, De Leeneer K, Devilee P, Diez O, Domchek SM, Doody M, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Dworniczak B, Egan K, Eilber U, Einbeigi Z, Ejlertsen B, Ellis S, Frost D, Lalloo F; EMBRACE, Fasching PA, Figueroa J, Flyger H, Friedlander M, Friedman E, Gambino G, Gao YT, Garber J, García-Closas M, Gehrig A, Damiola F, Lesueur F, Mazoyer S, Stoppa-Lyonnet D; behalf of GEMO Study Collaborators, Giles GG, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Haiman CA, Hallberg E, Hamann U, Hansen TV, Hart S, Hartikainen JM, Hartman M, Hassan N, Healey S, Hogervorst FB, Verhoef S; HEBON, Hendricks CB, Hillemanns P, Hollestelle A, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Joly Beauparlant C, Jones M, Kabisch M, Kang D, Karlan BY, Kauppila S, Kerin MJ, Khan S, Khusnutdinova E, Knight JA, Konstantopoulou I, Kraft P, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Le Marchand L, Lee CN, Lee MH, Lester J, Li J, Liljegren A, Lindblom A, Lophatananon A, Lubinski J, Mai PL, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McGuffog L, Meindl A, Menegaux F, Montagna M, Muir K, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Newcomb PA, Nord S, Nussbaum RL, Offit K, Olah E, Olopade OI, Olswold C, Osorio A, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Peeters S, Peissel B, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Presneau N, Radice P, Rahman N, Ramus SJ, Rashid MU, Rennert G, Rhiem K, Rudolph A, Salani R, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schürmann P, Seynaeve C, Shen CY, Shrubsole MJ, Shu XO, Sigurdson A, Singer CF, Slager S, Soucy P, Southey M, Steinemann D, Swerdlow A, Szabo CI, Tchatchou S, Teixeira MR, Teo SH, Terry MB, Tessier DC, Teulé A, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Tung N, Turnbull C, van den Ouweland AM, van Rensburg EJ, Ven den Berg D, Vijai J, Wang-Gohrke S, Weitzel JN, Whittemore AS, Winqvist R, Wong TY, Wu AH, Yannoukakos D, Yu JC, Pharoah PD, Hall P, Chenevix-Trench G; KConFab; AOCS Investigators, Dunning AM, Simard J, Couch FJ, Antoniou AC, Easton DF, Zheng W. Zeng C, et al. Breast Cancer Res. 2016 Jun 21;18(1):64. doi: 10.1186/s13058-016-0718-0. Breast Cancer Res. 2016. PMID: 27459855 Free PMC article.
  • Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.
    Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, Carlebur S, O'Reilly M, Betts JA, Hillman KM, Kaufmann S, Beesley J, Canisius S, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Schmidt MK, Broeks A, Hogervorst FB, van der Schoot CE, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Ruebner M, Ekici AB, Beckmann MW, Peto J, dos-Santos-Silva I, Fletcher O, Johnson N, Pharoah PD, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Yang R, Surowy H, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, González-Neira A, Benitez J, Zamora MP, Arias Perez JI, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Brauch H, Ko YD, Brüning T; GENICA Network, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Tanaka H, Dörk T, Bogdanova NV, Helbig S, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Zhao H, Weltens C, van Limbergen E, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Radice P, Peterlongo P, Barile M, Capra F, Couch FJ, Olson JE, Hallberg E, Vachon C, Giles GG, Milne RL, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, See MH, Cornes B, Cheng CY, Ikram MK, Kristensen V; Norwegian Breast Cancer Study, Zheng W, Halverson SL, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Klevebring D, Darabi H, Eriksson M, Hooning MJ, Hollestelle A, Martens JW, Collée JM, Hall P, Li J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Cross SS, Reed MW, Blot W, Signorello LB, Cai Q, Shah M, Ghoussaini M, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Miao H, Lim WY, Tang A, Hamann U, Torres D, Jakubowska A, Lubinski J, Jaworska K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Olswold C, Slager S, Toland AE, Yannoukakos D, Shen CY, Wu PE, Yu JC, Hou MF, Swerdlow A, Ashworth A, Orr N, Jones M, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Ahmed S, Healey CS, Brown MA, Ponder BA, Chenevix-Trench G, Thompson DJ, Edwards SL, Easton DF, Dunning AM, French JD. Glubb DM, et al. Am J Hum Genet. 2015 Jan 8;96(1):5-20. doi: 10.1016/j.ajhg.2014.11.009. Epub 2014 Dec 18. Am J Hum Genet. 2015. PMID: 25529635 Free PMC article.
  • Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
    Darabi H, Beesley J, Droit A, Kar S, Nord S, Moradi Marjaneh M, Soucy P, Michailidou K, Ghoussaini M, Fues Wahl H, Bolla MK, Wang Q, Dennis J, Alonso MR, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Benitez J, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Broeks A, Brüning T, Burwinkel B, Chang-Claude J, Choi JY, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Easton DF, Fasching PA, Figueroa J, Fletcher O, Flyger H, Galle E, García-Closas M, Giles GG, Goldberg MS, González-Neira A, Guénel P, Haiman CA, Hallberg E, Hamann U, Hartman M, Hollestelle A, Hopper JL, Ito H, Jakubowska A, Johnson N, Kang D, Khan S, Kosma VM, Kriege M, Kristensen V, Lambrechts D, Le Marchand L, Lee SC, Lindblom A, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Mayes R, McKay J, Meindl A, Milne RL, Muir K, Neuhausen SL, Nevanlinna H, Olswold C, Orr N, Peterlongo P, Pita G, Pylkäs K, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Seynaeve C, Shah M, Shen CY, Shu XO, Southey MC, Stram DO, Surowy H, Swerdlow A, Teo SH, Tessier DC, Tomlinson I, Torres D, Truong T, Vachon CM, Vincent D, Winqvist R, Wu AH, Wu PE, Yip CH, Zheng W, Pharoah PD, Hall P, Edwards SL, Simard J, French JD, Chenevix-Trench G, Dunning AM. Darabi H, et al. Sci Rep. 2016 Sep 7;6:32512. doi: 10.1038/srep32512. Sci Rep. 2016. PMID: 27600471 Free PMC article.
  • Breast cancer association studies in a Han Chinese population using 10 European-ancestry-associated breast cancer susceptibility SNPs.
    Guan YP, Yang XX, Yao GY, Qiu F, Chen J, Chen LJ, Ye CS, Li M. Guan YP, et al. Asian Pac J Cancer Prev. 2014;15(1):85-91. doi: 10.7314/apjcp.2014.15.1.85. Asian Pac J Cancer Prev. 2014. PMID: 24528085
  • Fine-mapping of a novel premenopausal breast cancer susceptibility locus at Chr4q31.22 in Caucasian women and validation in African and Chinese women.
    Kumaran M, Ghosh S, Joy AA, Mackey JR, Cass CE, Zheng W, Yasui Y, Damaraju S. Kumaran M, et al. Int J Cancer. 2020 Mar 1;146(5):1219-1229. doi: 10.1002/ijc.32407. Epub 2019 May 27. Int J Cancer. 2020. PMID: 31087647 Free PMC article. Clinical Trial.
See all similar articles

Cited by 14 articles

  • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
    Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Cornelissen S, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Domchek SM, Dörk T, Dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles DM, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz PA, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Tibiletti MG, Greene MH, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hartikainen JM, Hartman M, He W, Healey CS, Heemskerk-Gerritsen BAM, Heyworth J, Hillemanns P, Hogervorst FBL, Hollestelle A, Hooning MJ, Hopper JL, Howell A, Huang G, Hulick PJ, Imyanitov EN; KConFab Investigators; HEBON Investigators; ABCTB Investigators, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James PA, Janavicius R, Jankowitz RC, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor PM, Karlan BY, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Kirk J, Kitahara CM, Ko YD, Konstantopoulou I, Kosma VM, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo WY, Long J, Lophatananon A, Loud JT, Lubiński J, MacInnis RJ, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan AM, Muñoz-Garzon VM, Muranen TA, Narod SA, Nassir R, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Osorio A, Pankratz VS, Papp J, Park SK, Park-Simon TW, Parsons MT, Paul J, Pedersen IS, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana MA, Pylkäs K, Radice P, Ramus SJ, Rantala J, Rau-Murthy R, Rennert G, Risch HA, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler DP, Santamariña M, Saunders C, Sawyer EJ, Scheuner MT, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Scott C, Scott RJ, Senter L, Seynaeve CM, Shah M, Sharma P, Shen CY, Shu XO, Singer CF, Slavin TP, Smichkoska S, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow AJ, Tamimi RM, Tan YY, Tapper WJ, Taylor JA, Teixeira MR, Tengström M, Teo SH, Terry MB, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Torres-Mejía G, Troester MA, Truong T, Tung N, Tzardi M, Ulmer HU, Vachon CM, van Asperen CJ, van der Kolk LE, van Rensburg EJ, Vega A, Viel A, Vijai J, Vogel MJ, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wildiers H, Winqvist R, Wolk A, Wu AH, Yannoukakos D, Zhang Y, Zheng W, Hunter D, Pharoah PDP, Chang-Claude J, García-Closas M, Schmidt MK, Milne RL, Kristensen VN, French JD, Edwards SL, Antoniou AC, Chenevix-Trench G, Simard J, Easton DF, Kraft P, Dunning AM. Fachal L, et al. Nat Genet. 2020 Jan;52(1):56-73. doi: 10.1038/s41588-019-0537-1. Epub 2020 Jan 7. Nat Genet. 2020. PMID: 31911677
  • Elucidating the Underlying Functional Mechanisms of Breast Cancer Susceptibility Through Post-GWAS Analyses.
    Rivandi M, Martens JWM, Hollestelle A. Rivandi M, et al. Front Genet. 2018 Aug 2;9:280. doi: 10.3389/fgene.2018.00280. eCollection 2018. Front Genet. 2018. PMID: 30116257 Free PMC article. Review.
  • A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
    Wu L, Shi W, Long J, Guo X, Michailidou K, Beesley J, Bolla MK, Shu XO, Lu Y, Cai Q, Al-Ejeh F, Rozali E, Wang Q, Dennis J, Li B, Zeng C, Feng H, Gusev A, Barfield RT, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Barrdahl M, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brinton L, Broberg P, Brucker SY, Burwinkel B, Caldés T, Canzian F, Carter BD, Castelao JE, Chang-Claude J, Chen X, Cheng TD, Christiansen H, Clarke CL; NBCS Collaborators, Collée M, Cornelissen S, Couch FJ, Cox D, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Devilee P, Doheny KF, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Eccles DM, Eilber U, Eliassen AH, Engel C, Eriksson M, Fachal L, Fasching PA, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Closas M, Gaudet MM, Ghoussaini M, Giles GG, Goldberg MS, Goldgar DE, González-Neira A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hallberg E, Hamann U, Harrington P, Hein A, Hicks B, Hillemanns P, Hollestelle A, Hoover RN, Hopper JL, Huang G, Humphreys K, Hunter DJ, Jakubowska A, Janni W, John EM, Johnson N, Jones K, Jones ME, Jung A, Kaaks R, Kerin MJ, Khusnutdinova E, Kosma VM, Kristensen VN, Lambrechts D, Le Marchand L, Li J, Lindström S, Lissowska J, Lo WY, Loibl S, Lubinski J, Luccarini C, Lux MP, MacInnis RJ, Maishman T, Kostovska IM, Mannermaa A, Manson JE, Margolin S, Mavroudis D, Meijers-Heijboer H, Meindl A, Menon U, Meyer J, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Nielsen SF, Nordestgaard BG, Olopade OI, Olson JE, Olsson H, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prentice R, Presneau N, Pylkäs K, Rack B, Radice P, Rahman N, Rennert G, Rennert HS, Rhenius V, Romero A, Romm J, Rudolph A, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Scott RJ, Scott CG, Seal S, Shah M, Shrubsole MJ, Smeets A, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper W, Taylor JA, Terry MB, Tessier DC, Thomas A, Thöne K, Tollenaar RAEM, Torres D, Truong T, Untch M, Vachon C, Van Den Berg D, Vincent D, Waisfisz Q, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett WC, Winqvist R, Wolk A, Xia L, Yang XR, Ziogas A, Ziv E; kConFab/AOCS Investigators, Dunning AM, Pharoah PDP, Simard J, Milne RL, Edwards SL, Kraft P, Easton DF, Chenevix-Trench G, Zheng W. Wu L, et al. Nat Genet. 2018 Jul;50(7):968-978. doi: 10.1038/s41588-018-0132-x. Epub 2018 Jun 18. Nat Genet. 2018. PMID: 29915430 Free PMC article.
  • A Comprehensive cis-eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies.
    Guo X, Lin W, Bao J, Cai Q, Pan X, Bai M, Yuan Y, Shi J, Sun Y, Han MR, Wang J, Liu Q, Wen W, Li B, Long J, Chen J, Zheng W. Guo X, et al. Am J Hum Genet. 2018 May 3;102(5):890-903. doi: 10.1016/j.ajhg.2018.03.016. Am J Hum Genet. 2018. PMID: 29727689 Free PMC article.
  • Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.
    Lilyquist J, Ruddy KJ, Vachon CM, Couch FJ. Lilyquist J, et al. Cancer Epidemiol Biomarkers Prev. 2018 Apr;27(4):380-394. doi: 10.1158/1055-9965.EPI-17-1144. Epub 2018 Jan 30. Cancer Epidemiol Biomarkers Prev. 2018. PMID: 29382703 Free PMC article. Review.
See all "Cited by" articles

MeSH terms

Feedback