Browsing by Author "Li, Jingmei"
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Publication Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk(American Association for Cancer Research (AACR), 2012-07) Vachon, Celine M; Scott, Christopher G; Fasching, Peter A; Hall, Per; Tamimi, Rulla M; Li, Jingmei; Stone, Jennifer; Apicella, Carmel; Odefrey, Fabrice; Gierach, Gretchen L; Jud, Sebastian M; Heusinger, Katharina; Beckmann, Matthias W; Pollan-Santamaria, Marina; Fernandez-Navarro, Pablo L; Gonzalez Neira, Anna; Benitez , Javier; van Gils, Carla H; Lokate, Mariëtte; Onland-Moret, N Charlotte; Peeters, Petra H M; Brown, Judith; Leyland, Jean; Varghese, Jajini S; Easton, Douglas F; Thompson, Deborah J; Luben, Robert N; Warren, Ruth M L; Wareham, Nicholas J; Loos, Ruth J F; Khaw, Kay-Tee; Ursin, Giske; Lee, Eunjung; Gayther, Simon A; Ramus, Susan J; Eeles, Rosalind A; Leach, Martin O; Kwan-Lim, Gek; Couch, Fergus J; Giles, Graham G; Baglietto, Laura; Krishnan, Kavitha; Southey, Melissa C; Le Marchand, Loic; Kolonel, Laurence N; Woolcott, Christy; Maskarinec, Gertraud; Haiman, Christopher A; Walker, Kate; Johnson, Nichola; McCormack, Valeria A; Biong, Margarethe; Alnaes, Grethe I G; Gram, Inger Torhild; Kristensen, Vessela N; Børresen-Dale, Anne-Lise; Lindström, Sara; Hankinson, Susan E; Hunter, David J; Andrulis, Irene L; Knight, Julia A; Boyd, Norman F; Figuero, Jonine D; Lissowska, Jolanta; Wesolowska, Ewa; Peplonska, Beata; Bukowska, Agnieszka; Reszka, Edyta; Liu, JianJun; Eriksson, Louise; Czene, Kamila; Audley, Tina; Wu, Anna H; Pankratz, V Shane; Hopper, John L; dos-Santos-Silva, Isabel; Instituto de Salud Carlos III; Fundación AstraZeneca; Federación Española de Cáncer de MamaBACKGROUND: Mammographic density adjusted for age and body mass index (BMI) is a heritable marker of breast cancer susceptibility. Little is known about the biologic mechanisms underlying the association between mammographic density and breast cancer risk. We examined whether common low-penetrance breast cancer susceptibility variants contribute to interindividual differences in mammographic density measures. METHODS: We established an international consortium (DENSNP) of 19 studies from 10 countries, comprising 16,895 Caucasian women, to conduct a pooled cross-sectional analysis of common breast cancer susceptibility variants in 14 independent loci and mammographic density measures. Dense and nondense areas, and percent density, were measured using interactive-thresholding techniques. Mixed linear models were used to assess the association between genetic variants and the square roots of mammographic density measures adjusted for study, age, case status, BMI, and menopausal status. RESULTS: Consistent with their breast cancer associations, the C-allele of rs3817198 in LSP1 was positively associated with both adjusted dense area (P = 0.00005) and adjusted percent density (P = 0.001), whereas the A-allele of rs10483813 in RAD51L1 was inversely associated with adjusted percent density (P = 0.003), but not with adjusted dense area (P = 0.07). CONCLUSION: We identified two common breast cancer susceptibility variants associated with mammographic measures of radiodense tissue in the breast gland. IMPACT: We examined the association of 14 established breast cancer susceptibility loci with mammographic density phenotypes within a large genetic consortium and identified two breast cancer susceptibility variants, LSP1-rs3817198 and RAD51L1-rs10483813, associated with mammographic measures and in the same direction as the breast cancer association.Publication Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus(Nature Publishing Group, 2016) Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline B; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan; Ramus, Susan J; Li, Qiyuan; Delgado, Melissa K; Lee, Janet M; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K; Arver, Brita; Bandera, Elisa V; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Beckmann, Matthias W; Benitez, Javier; Berchuck, Andrew; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Blot, William; Bogdanova, Natalia; Bojesen, Anders; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Bruinsma, Fiona; Brunet, Joan; Buhari, Shaik Ahmad; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Canniotto, Rikki; Chang-Claude, Jenny; Chiquette, Jocelyne; Choi, Ji-Yeob; Claes, Kathleen B M; Cook, Linda S; Cox, Angela; Cramer, Daniel W; Cross, Simon S; Cybulski, Cezary; Czene, Kamila; Daly, Mary B; Damiola, Francesca; Dansonka-Mieszkowska, Agnieszka; Darabi, Hatef; Dennis, Joe; Devilee, Peter; Diez, Orland; Doherty, Jennifer A; Domchek, Susan M; Dorfling, Cecilia M; Dörk, Thilo; Dumont, Martine; Ehrencrona, Hans; Ejlertsen, Bent; Ellis, Steve; Engel, Christoph; Lee, Eunjung; Evans, D Gareth; Fasching, Peter A; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foretova, Lenka; Fostira, Florentia; Foulkes, William D; Fridley, Brooke L; Friedman, Eitan; Frost, Debra; Gambino, Gaetana; Ganz, Patricia A; Garber, Judy; García-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Ghoussaini, Maya; Giles, Graham G; Glasspool, Rosalind; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; González-Neira A, Anna; Goode, Ellen L; Goodman, Marc T; Greene, Mark H; Gronwald, Jacek; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V O; Harrington, Patricia A; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; Heitz, Florian; Herzog, Josef; Høgdall, Estrid; Høgdall, Claus K; Hogervorst, Frans B L; Hollestelle, Antoinette; Hopper, John L; Hulick, Peter J; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jensen, Allan; John, Esther M; Johnson, Nichola; Kabisch, Maria; Kang, Daehee; Kapuscinski, Miroslav; Karlan, Beth Y; Khan, Sofia; Kiemeney, Lambertus A; Kjaer, Susanne Kruger; Knight, Julia A; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela; Kupryjanczyk, Jolanta; Kwong, Ava; de la Hoya, Miguel; Laitman, Yael; Lambrechts, Diether; Le, Nhu; De Leeneer, Kim; Lester, Jenny; Levine, Douglas A; Li, Jingmei; Lindblom, Annika; Long, Jirong; Lophatananon, Artitaya; Loud, Jennifer T; Lu, Karen; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Le Marchand, Loic; Margolin, Sara; Marme, Frederik; Massuger, Leon F A G; Matsuo, Keitaro; Mazoyer, Sylvie; McGuffog, Lesley; McLean, Catriona; McNeish, Iain; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R; Milne, Roger L; Montagna, Marco; Moysich, Kirsten B; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L; Ness, Roberta B; Neuhausen, Susan L; Nevanlinna, Heli; Nord, Silje; Nussbaum, Robert L; Odunsi, Kunle; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Olson, Janet E; Olswold, Curtis; O'Malley, David; Orlow, Irene; Orr, Nick; Osorio, Ana; Park, Sue Kyung; Pearce, Celeste L; Pejovic, Tanja; Peterlongo, Paolo; Pfeiler, Georg; Phelan, Catherine M; Poole, Elizabeth M; Pylkäs, Katri; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad Usman; Rennert, Gad; Rhenius, Valerie; Rhiem, Kerstin; Risch, Harvey A; Rodriguez, Gus; Rossing, Mary Anne; Rudolph, Anja; Salvesen, Helga B; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schildkraut, Joellen M; Schmidt, Marjanka K; Schmutzler, Rita K; Sellers, Thomas A; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Sieh, Weiva; Singer, Christian F; Sinilnikova, Olga M; Slager, Susan; Song, Honglin; Soucy, Penny; Southey, Melissa C; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Sutter, Christian; Swerdlow, Anthony; Tchatchou, Sandrine; Teixeira, Manuel R; Teo, Soo H; Terry, Kathryn L; Terry, Mary Beth; Thomassen, Mads; Tibiletti, Maria Grazia; Tihomirova, Laima; Tognazzo, Silvia; Toland, Amanda Ewart; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Tung, Nadine; Tworoger, Shelley S; Vachon, Celine; van den Ouweland, Ans M W; van Doorn, Helena C; van Rensburg, Elizabeth J; Van't Veer, Laura J; Vanderstichele, Adriaan; Vergote, Ignace; Vijai, Joseph; Wang, Qin; Wang-Gohrke, Shan; Weitzel, Jeffrey N; Wentzensen, Nicolas; Whittemore, Alice S; Wildiers, Hans; Winqvist, Robert; Wu, Anna H; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Khanna, Kum Kum; Simard, Jacques; Monteiro, Alvaro N; French, Juliet D; Couch, Fergus J; Freedman, Matthew L; Easton, Douglas F; Dunning, Alison M; Pharoah, Paul D; Edwards, Stacey L; Chenevix-Trench, Georgia; Antoniou, Antonis C; Gayther, Simon A; NIH - National Cancer Institute (NCI) (Estados Unidos); National Health and Medical Research Council (Australia); Victorian Health Promotion Foundation; Dutch Cancer Society (Holanda); Breast Cancer Research Trust; Lon V. Smith Foundation; Federal Ministry of Education & Research (Alemania); California Breast Cancer Research Program; German Cancer Aid; Ministère de Économie, Innovation et Exportation (Canadá); Ministry of Higher Education (Malasia); National Medical Research Council (Singapur); Finlands Akademi (Finlandia); University of Oulu (Finlandia); Yorkshire Cancer Research; Hellenic Cooperative Oncology Group; California Cancer Research Program; Canadian Institutes of Health Research; Danish Cancer Society; Ministry of Science and Higher Education (Polonia); United States Army Medical Research and Development Command; Asociación Española Contra el Cáncer; University of Kansas. Cancer Center (Estados Unidos); Hungarian Research Grants; Instituto de Salud Carlos III; Norwegian EEA Financial Mechanism; Canadian Breast Cancer Network; NIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos); Congressionally Directed Medical Research Programs (Estados Unidos); NRG Oncology National (Estados Unidos); Unión Europea. Comisión Europea. 7 Programa MarcoA locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.Publication Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk(Nature Publishing Group, 2014-10-24) Lindström, Sara; Thompson, Deborah J; Paterson, Andrew D; Li, Jingmei; Gierach, Gretchen L; Scott, Christopher; Stone, Jennifer; Douglas, Julie A; dos-Santos-Silva, Isabel; Fernandez-Navarro, Pablo L; Verghase, Jajini; Smith, Paula; Brown, Judith; Luben, Robert; Wareham, Nicholas J; Loos, Ruth J F; Heit, John A; Pankratz, V Shane; Norman, Aaron; Goode, Ellen L; Cunningham, Julie M; deAndrade, Mariza; Vierkant, Robert A; Czene, Kamila; Fasching, Peter A; Baglietto, Laura; Southey, Melissa C; Giles, Graham G; Shah, Kaanan P; Chan, Heang-Ping; Helvie, Mark A; Beck, Andrew H; Knoblauch, Nicholas W; Hazra, Aditi; Hunter, David J; Kraft, Peter; Pollan-Santamaria, Marina; Figueroa, Jonine D; Couch, Fergus J; Hopper, John L; Hall, Per; Easton, Douglas F; Boyd, Norman F; Vachon, Celine M; Tamimi, Rulla M; Instituto de Salud Carlos III; Unión EuropeaMammographic density reflects the amount of stromal and epithelial tissues in relation to adipose tissue in the breast and is a strong risk factor for breast cancer. Here we report the results from meta-analysis of genome-wide association studies (GWAS) of three mammographic density phenotypes: dense area, non-dense area and percent density in up to 7,916 women in stage 1 and an additional 10,379 women in stage 2. We identify genome-wide significant (P<5 × 10(-8)) loci for dense area (AREG, ESR1, ZNF365, LSP1/TNNT3, IGF1, TMEM184B and SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23 and TMEM184B). Four of these regions are known breast cancer susceptibility loci, and four additional regions were found to be associated with breast cancer (P<0.05) in a large meta-analysis. These results provide further evidence of a shared genetic basis between mammographic density and breast cancer and illustrate the power of studying intermediate quantitative phenotypes to identify putative disease-susceptibility loci.Publication Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size(BMJ Publishing Group, 2013-10) Li, Jingmei; Foo, Jia Nee; Schoof, Nils; Varghese, Jajini S; Fernandez-Navarro, Pablo L; Gierach, Gretchen L; Quek, Swee Tian; Hartman, Mikael; Nord, Silje; Kristensen, Vessela N; Pollan-Santamaria, Marina; Figueroa, Jonine D; Thompson, Deborah J; Li, Yi; Khor, Chiea Chuen; Humphreys, Keith; Liu, Jianjun; Czene, Kamila; Hall, Per; Unión EuropeaBACKGROUND: Individual differences in breast size are a conspicuous feature of variation in human females and have been associated with fecundity and advantage in selection of mates. To identify common variants that are associated with breast size, we conducted a large-scale genotyping association meta-analysis in 7169 women of European descent across three independent sample collections with digital or screen film mammograms. METHODS: The samples consisted of the Swedish KARMA, LIBRO-1 and SASBAC studies genotyped on iCOGS, a custom illumina iSelect genotyping array comprising of 211 155 single nucleotide polymorphisms (SNPs) designed for replication and fine mapping of common and rare variants with relevance to breast, ovary and prostate cancer. Breast size of each subject was ascertained by measuring total breast area (mm(2)) on a mammogram. RESULTS: We confirm genome-wide significant associations at 8p11.23 (rs10086016, p=1.3×10(-14)) and report a new locus at 22q13 (rs5995871, p=3.2×10(-8)). The latter region contains the MKL1 gene, which has been shown to impact endogenous oestrogen receptor α transcriptional activity and is recruited on oestradiol sensitive genes. We also replicated previous genome-wide association study findings for breast size at four other loci. CONCLUSIONS: A new locus at 22q13 may be associated with female breast size.Publication Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study(BioMed Central (BMC), 2017-11-07) Brouckaert, Olivier; Rudolph, Anja; Laenen, Annouschka; Keeman, Renske; Bolla, Manjeet K; Wang, Qin; Soubry, Adelheid; Wildiers, Hans; Andrulis, Irene L; Arndt, Volker; Beckmann, Matthias W; Benitez , Javier; Blomqvist, Carl; Bojesen, Stig E; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Chenevix-Trench, Georgia; Choi, Ji-Yeob; Cornelissen, Sten; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Giles, Graham G; González-Neira A, Anna; Guénel, Pascal; Hall, Per; Hollestelle, Antoinette; Hopper, John L; Ito, Hidemi; Jones, Michael; Kang, Daehee; Knight, Julia A; Kosma, Veli-Matti; Li, Jingmei; Lindblom, Annika; Lilyquist, Jenna; Lophatananon, Artitaya; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Muir, Kenneth; Nevanlinna, Heli; Peterlongo, Paolo; Pylkäs, Katri; Saajrang, Suleeporn; Seynaeve, Caroline; Shen, Chen-Yang; Shu, Xiao-Ou; Southey, Melissa C; Swerdlow, Anthony; Teo, Soo-Hwang; Tollenaar, Rob A E M; Truong, Thérèse; Tseng, Chiu-Chen; van den Broek, Alexandra J; van Deurzen, Carolien H M; Winqvist, Robert; Wu, Anna H; Yip, Cheng Har; Yu, Jyh-Cherng; Zheng, Wei; Milne, Roger L; Pharoah, Paul D P; Easton, Douglas F; Schmidt, Marjanka K; Garcia-Closas, Montserrat; Chang-Claude, Jenny; Lambrechts, Diether; Neven, Patrick; Unión Europea. Comisión Europea. 7 Programa Marco; Cancer Research UK (Reino Unido); NIH - National Cancer Institute (NCI) (Estados Unidos); National Health and Medical Research Council (Australia); New South Wales Cancer Council (Reino Unido); Victorian Health Promotion Foundation; Dutch Cancer Society (Holanda); Agence Nationale de la Recherche (Francia); French Agency for Food, Environmental and Occupational Health & Safety (Francia); Asociación Española Contra el Cáncer; Instituto de Salud Carlos III; Centro de Investigación Biomedica en Red - CIBER; Federal Ministry of Education & Research (Alemania); Cancer Society of Finland; Ministry of Education, Culture, Sports, Science, and Technology (Japón); Japan Agency for Medical Research and Development; United States Army Medical Research and Development Command; California Breast Cancer Research Program; German Cancer Aid; Ministry of Higher Education (Malasia); Biomedical Research Council (Singapore); National Institutes of Health (Estados Unidos); National Research Foundation of KoreaBACKGROUND: Previous studies have shown that reproductive factors are differentially associated with breast cancer (BC) risk by subtypes. The aim of this study was to investigate associations between reproductive factors and BC subtypes, and whether these vary by age at diagnosis. METHODS: We used pooled data on tumor markers (estrogen and progesterone receptor, human epidermal growth factor receptor-2 (HER2)) and reproductive risk factors (parity, age at first full-time pregnancy (FFTP) and age at menarche) from 28,095 patients with invasive BC from 34 studies participating in the Breast Cancer Association Consortium (BCAC). In a case-only analysis, we used logistic regression to assess associations between reproductive factors and BC subtype compared to luminal A tumors as a reference. The interaction between age and parity in BC subtype risk was also tested, across all ages and, because age was modeled non-linearly, specifically at ages 35, 55 and 75 years. RESULTS: Parous women were more likely to be diagnosed with triple negative BC (TNBC) than with luminal A BC, irrespective of age (OR for parity = 1.38, 95% CI 1.16-1.65, p = 0.0004; p for interaction with age = 0.076). Parous women were also more likely to be diagnosed with luminal and non-luminal HER2-like BCs and this effect was slightly more pronounced at an early age (p for interaction with age = 0.037 and 0.030, respectively). For instance, women diagnosed at age 35 were 1.48 (CI 1.01-2.16) more likely to have luminal HER2-like BC than luminal A BC, while this association was not significant at age 75 (OR = 0.72, CI 0.45-1.14). While age at menarche was not significantly associated with BC subtype, increasing age at FFTP was non-linearly associated with TNBC relative to luminal A BC. An age at FFTP of 25 versus 20 years lowered the risk for TNBC (OR = 0.78, CI 0.70-0.88, p < 0.0001), but this effect was not apparent at a later FFTP. CONCLUSIONS: Our main findings suggest that parity is associated with TNBC across all ages at BC diagnosis, whereas the association with luminal HER2-like BC was present only for early onset BC.Publication rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk(2016) Liu, Jingjing; Lončar, Ivona; Collée, J Margriet; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Andrulis, Irene L; Barile, Monica; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Blomqvist, Carl; Boeckx, Bram; Bogdanova, Natalia V; Bojesen, Stig E; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Broeks, Annegien; Burwinkel, Barbara; Chang-Claude, Jenny; Chen, Shou-Tung; Chenevix-Trench, Georgia; Cheng, Ching Y; Choi, Ji-Yeob; Couch, Fergus J; Cox, Angela; Cross, Simon S; Cuk, Katarina; Czene, Kamila; Dörk, Thilo; Dos-Santos-Silva, Isabel; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; García-Closas, Montserrat; Giles, Graham G; Glendon, Gord; Goldberg, Mark S; Gonzalez Neira, Anna; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Hart, Steven N; Hartman, Mikael; Hatse, Sigrid; Hopper, John L; Ito, Hidemi; Jakubowska, Anna; Kabisch, Maria; Kang, Daehee; Kosma, Veli-Matti; Kristensen, Vessela N; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lophatananon, Artitaya; Jan Lubinski, null; Mannermaa, Arto; Matsuo, Keitaro; Milne, Roger L; Neuhausen, Susan L; Nevanlinna, Heli; Orr, Nick; Perez, Jose I A; Peto, Julian; Putti, Thomas C; Pylkäs, Katri; Radice, Paolo; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schmidt, Marjanka K; Schneeweiss, Andreas; Shen, Chen-Yang; Shrubsole, Martha J; Shu, Xiao-Ou; Simard, Jacques; Southey, Melissa C; Swerdlow, Anthony; Teo, Soo H; Tessier, Daniel C; Thanasitthichai, Somchai; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Vachon, Celine; Winqvist, Robert; Wu, Anna H; Yannoukakos, Drakoulis; Zheng, Wei; Hall, Per; Dunning, Alison M; Easton, Douglas F; Hooning, Maartje J; van den Ouweland, Ans M W; Martens, John W M; Hollestelle, Antoinette; Unión Europea. Comisión Europea. European Research Council (ERC); United States Department of Health and Human Services; Post-cancer GWAS Initiative; Dutch Cancer Society (Holanda); NIH - National Cancer Institute (NCI) (Estados Unidos); Instituto de Salud Carlos III; California Breast Cancer Research Program; California Department of Public Health; Lon V. Smith Foundation; Federal Ministry of Education & Research (Alemania); Finlands Akademi (Finlandia); Ministry of Education, Culture, Sports, Science, and Technology (Japón); Japan Agency for Medical Research and Development; United States Army Medical Research and Development Command; National Health and Medical Research Council (Australia); Deutsche Krebshilfe; Quebec Breast Cancer Foundation; Canadian Institutes of Health Research; Ministry of Higher Education (Malasia); The Research Council of Norway; Southern and Eastern Norway Regional Health Authority; Norwegian Cancer Society; Survey and Biospecimen Shared Resource; Genetic Associations and Mechanisms in Oncology (GAME-ON) Initiative; BRL (Basic Research Laboratory) program through the National Research Foundation of Korea - Ministry of Education, Science and Technology; Agency for Science, Technology and Research (Singapur); NIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos); Hellenic Cooperative Oncology Group; Cancer Research UK (Reino Unido)NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > C, located in a microRNA binding site in the 3'-untranslated region (UTR) of NBS1, was shown to be associated with increased susceptibility to lung and colorectal cancer. However, the relation between rs2735383 and susceptibility to breast cancer is not yet clear. Therefore, we genotyped rs2735383 in 1,170 familial non-BRCA1/2 breast cancer cases and 1,077 controls using PCR-based restriction fragment length polymorphism (RFLP-PCR) analysis, but found no association between rs2735383CC and breast cancer risk (OR = 1.214, 95% CI = 0.936-1.574, P = 0.144). Because we could not exclude a small effect size due to a limited sample size, we further analyzed imputed rs2735383 genotypes (r2 > 0.999) of 47,640 breast cancer cases and 46,656 controls from the Breast Cancer Association Consortium (BCAC). However, rs2735383CC was not associated with overall breast cancer risk in European (OR = 1.014, 95% CI = 0.969-1.060, P = 0.556) nor in Asian women (OR = 0.998, 95% CI = 0.905-1.100, P = 0.961). Subgroup analyses by age, age at menarche, age at menopause, menopausal status, number of pregnancies, breast feeding, family history and receptor status also did not reveal a significant association. This study therefore does not support the involvement of the genotype at NBS1 rs2735383 in breast cancer susceptibility.