Diana Maria Torres Lopez

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Diana Maria Torres Lopez

 https://orcid.org/0000-0002-9879-9775
    20002024

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    • 2024

      Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

      NBCS Collaborators & kConFab Investigators, 05 Sep 2024, In: American Journal of Human Genetics. 111, 9, p. 2059-2069 11 p.

      Research output: Contribution to journal › Article › peer-review

      3 Scopus citations
    • 2023

      Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

      NBCS Collaborators, CTS Consortium & ABCTB Investigators, Dec 2023, In: Genome Medicine. 15, 1, 7.

      Research output: Contribution to journal › Article › peer-review

      10 Scopus citations

    • Native American ancestry and breast cancer risk in Colombian and Mexican women: ruling out potential confounding through ancestry-informative markers

      Zollner, L., Torres, D., Briceno, I., Gilbert, M., Torres-Mejía, G., Dennis, J., Bolla, M. K., Wang, Q., Hamann, U. & Lorenzo Bermejo, J., Dec 2023, In: Breast Cancer Research. 25, 1, 111.

      Research output: Contribution to journal › Article › peer-review

      1 Scopus citations
    • 2022

      Breast cancer risks associated with missense variants in breast cancer susceptibility genes

      NBCS Collaborators, kConFab Investigators & SGBCC Investigators, Dec 2022, In: Genome Medicine. 14, 1, 51.

      Research output: Contribution to journal › Article › peer-review

      38 Scopus citations

    • Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

      Li, S., Silvestri, V., Leslie, G., Rebbeck, T. R., Neuhausen, S. L., Hopper, J. L., Nielsen, H. R., Lee, A., Yang, X., Mcguffog, L., Parsons, M. T., Andrulis, I. L., Arnold, N., Belotti, M., Borg, Å., Buecher, B., Buys, S. S., Caputo, S. M., Chung, W. K. & Colas, C. & 82 others, Colonna, S. V., Cook, J., Daly, M. B., De La Hoya, M., De Pauw, A., Delhomelle, H., Eason, J., Engel, C., Evans, D. G., Faust, U., Fehm, T. N., Fostira, F., Fountzilas, G., Frone, M., Garcia-Barberan, V., Garre, P., Gauthier-Villars, M., Gehrig, A., Glendon, G., Goldgar, D. E., Golmard, L., Greene, M. H., Hahnen, E., Hamann, U., Hanson, H., Hassan, T., Hentschel, J., Horvath, J., Izatt, L., Janavicius, R., Jiao, Y., John, E. M., Karlan, B. Y., Kim, S. W., Konstantopoulou, I., Kwong, A., Laugé, A., Lee, J. W., Lesueur, F., Mebirouk, N., Meindl, A., Mouret-Fourme, E., Musgrave, H., Ngeow Yuen Yie, J., Niederacher, D., Park, S. K., Pedersen, I. S., Ramser, J., Ramus, S. J., Rantala, J., Rashid, M. U., Reichl, F., Ritter, J., Rump, A., Santamariña, M., Saule, C., Schmidt, G., Schmutzler, R. K., Senter, L., Shariff, S., Singer, C. F., Southey, M. C., Stoppa-Lyonnet, D., Sutter, C., Tan, Y., Teo, S. H., Terry, M. B., Thomassen, M., Tischkowitz, M., Toland, A. E., Torres, D., Vega, A., Wagner, S. A., Wang-Gohrke, S., Wappenschmidt, B., Weber, B. H. F., Yannoukakos, D., Spurdle, A. B., Easton, D. F., Chenevix-Trench, G., Ottini, L. & Antoniou, A. C., 10 May 2022, In: Journal of Clinical Oncology. 40, 14, p. 1529-1541 13 p.

      Research output: Contribution to journal › Article › peer-review

      187 Scopus citations

    • Common variants in breast cancer risk loci predispose to distinct tumor subtypes

      NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators, 01 Dec 2022, In: Breast Cancer Research. 24, 1, 2.

      Research output: Contribution to journal › Article › peer-review

      19 Scopus citations

    • Incorporating progesterone receptor expression into the PREDICT breast prognostic model

      ABCTB Investigators, kConFab Investigators & kConFab Investigators, Sep 2022, In: European Journal of Cancer. 173, p. 178-193 16 p.

      Research output: Contribution to journal › Article › peer-review

      8 Scopus citations

    • Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes

      Mavaddat, N., Dorling, L., Carvalho, S., Allen, J., González-Neira, A., Keeman, R., Bolla, M. K., Dennis, J., Wang, Q., Ahearn, T. U., Andrulis, I. L., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Briceno, I. & Brüning, T. & 74 others, Camp, N. J., Campbell, A., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chenevix-Trench, G., Christiansen, H., Czene, K., Dörk, T., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J. D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Geisler, J., Giles, G. G., Guénel, P., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Hartikainen, J. M., Hartman, M., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E. K., Kristensen, V. N., Li, J., Lim, S. H., Lindblom, A., Loizidou, M. A., Lophatananon, A., Lubiński, J., Madsen, M. J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R. L., Taib, N. A. M., Morra, A., Muir, K., Obi, N., Osorio, A., Park-Simon, T. W., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Shah, M., Sim, X., Southey, M. C., Thorne, H., Tomlinson, I., Torres, D., Truong, T., Yip, C. H., Spurdle, A. B., Vreeswijk, M. P. G., Dunning, A. M., García-Closas, M., Pharoah, P. D. P., Kvist, A., Muranen, T. A., Nevanlinna, H., Teo, S. H., Devilee, P., Schmidt, M. K. & Easton, D. F., 2022, In: JAMA Oncology. 8, 3

      Research output: Contribution to journal › Article › peer-review

      93 Scopus citations

    • Polygenic risk modeling for prediction of epithelial ovarian cancer risk

      GEMO Study Collaborators, GC-HBOC study Collaborators, EMBRACE Collaborators, OPAL Study Group, AOCS Group, kConFab Investigators, HEBON Investigators, The OCAC Consortium & The CIMBA Consortium, Mar 2022, In: European Journal of Human Genetics. 30, 3, p. 349-362 14 p.

      Research output: Contribution to journal › Article › peer-review

      36 Scopus citations

    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer

      Vargas, E., de Deugd, R., Villegas, V. E., Gil, F., Mora, L., Viaña, L. F., Bruges, R., Gonzalez, A., Galvis, J. C., Hamann, U. & Torres, D., Feb 2022, In: Oncologist. 27, 2, p. E151-E157

      Research output: Contribution to journal › Article › peer-review

      3 Scopus citations
    • 2021

      A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

      GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators, 01 Dec 2021, In: Nature Communications. 12, 1, 1078.

      Research output: Contribution to journal › Article › peer-review

      27 Scopus citations

    • Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium

      The ABCTB Investigators & The NBCS Collaborators, Apr 2021, In: Cancer Epidemiology Biomarkers and Prevention. 30, 4, p. 623-642 20 p.

      Research output: Contribution to journal › Article › peer-review

      28 Scopus citations

    • Breast cancer risk genes - Association analysis in more than 113,000 women

      Breast Cancer Association Consortium, 04 Feb 2021, In: New England Journal of Medicine. 384, 5, p. 428-439 12 p.

      Research output: Contribution to journal › Article › peer-review

      715 Scopus citations
    • 2020

      Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

      Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittom, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J. & Balmaña, J. & 239 others, Barkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldes, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., De La Hoya, M., Della Puppa, L., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadalo, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberan, V., Garre, P., Gauthier-Villars, M., Geczi, L., Gehrig, A., Gerdes, A. M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S. W., Kim, Z., Ko, K. P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lazaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernandez, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Gomes, D. M., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Cilius Nielsen, F. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K. R., Osorio, A., Ott, C. E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A. B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., Van Asperen, C. J., Van Der Baan, F. H., Van Der Kolk, L. E., Van Der Luijt, R. B., Van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstrate, J., Villa, R., Von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S. Y., Zanzottera, C., Zorn, K. K., D’Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., 01 Feb 2020, In: Cancer Research. 80, 3, p. 624-638 15 p.

      Research output: Contribution to journal › Article › peer-review

      40 Scopus citations

    • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

      GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators, 01 Jan 2020, In: Nature Genetics. 52, 1, p. 56-73 18 p.

      Research output: Contribution to journal › Article › peer-review

      119 Scopus citations

    • Genetic variability in the microRNA binding sites of BMPR1B, TGFBR1, IQGAP1, KRAS, SETD8 and RYR3 and risk of breast cancer in Colombian women

      Mesa, K. G., Bermejo, J. L., Torres, D., Gilbert, M., Plass, C. & Hamann, U., 2020, In: OncoTargets and Therapy. 13, p. 12281-12287 7 p.

      Research output: Contribution to journal › Article › peer-review

      4 Scopus citations

    • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

      kConFab Investigators, ABCTB Investigators, EMBRACE Study & GEMO Study Collaborators, 01 Jun 2020, In: Nature Genetics. 52, 6, p. 572-581 10 p.

      Research output: Contribution to journal › Article › peer-review

      305 Scopus citations

    • Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

      NBCS Collaborators, OSBREAC & ABCTB Investigators, 01 Dec 2020, In: Scientific Reports. 10, 1, 9688.

      Research output: Contribution to journal › Article › peer-review

      4 Scopus citations

    • Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

      ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators, GEMO Study Collaborators, EMBRACE Collaborators & GC-HBOC study Collaborators, 01 Jul 2020, In: Genetic Epidemiology. 44, 5, p. 442-468 27 p.

      Research output: Contribution to journal › Article › peer-review

      32 Scopus citations
    • 2019

      Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

      EMBRACE Collaborators, GC-HBOC study Collaborators, GEMO Study Collaborators, ABCTB Investigators, HEBON Investigators & BCFR Investigators, 01 Dec 2019, In: Nature Communications. 10, 1, 1741.

      Research output: Contribution to journal › Article › peer-review

      86 Scopus citations

    • Genome-wide association study of germline variants and breast cancer-specific mortality

      NBCS Collaborators, 19 Mar 2019, In: British Journal of Cancer. 120, 6, p. 647-657 11 p.

      Research output: Contribution to journal › Article › peer-review

      46 Scopus citations

    • Interaction between genetic ancestry and common breast cancer susceptibility variants in Colombian women

      Torres, D., Lorenzo Bermejo, J., Garcia Mesa, K., Gilbert, M., Briceño, I., Pohl-Zeidler, S., González Silos, R., Boekstegers, F., Plass, C. & Hamann, U., 01 May 2019, In: International Journal of Cancer. 144, 9, p. 2181-2191 11 p.

      Research output: Contribution to journal › Article › peer-review

      13 Scopus citations

    • Shared heritability and functional enrichment across six solid cancers

      Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H. & Antoniou, A. C. & 313 others, Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y. C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K. T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H. J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H. E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., 01 Dec 2019, In: Nature Communications. 10, 1, 431.

      Research output: Contribution to journal › Article › peer-review

      81 Scopus citations

    • The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

      KConFab, ABCTB Investigators & GEMO Study Collaborators, 01 Dec 2019, In: npj Breast Cancer. 5, 1, 38.

      Research output: Contribution to journal › Article › peer-review

      30 Scopus citations

    • Two truncating variants in FANCC and breast cancer risk

      ABCTB Investigators & NBCS Collaborators, 01 Dec 2019, In: Scientific Reports. 9, 1, 12524.

      Research output: Contribution to journal › Article › peer-review

      9 Scopus citations
    • 2018

      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, M. K., Shu, X. O., Lu, Y., Cai, Q., Al-Ejeh, F., Rozali, E., Wang, Q., Dennis, J., Li, B., Zeng, C., Feng, H., Gusev, A., Barfield, R. T. & Andrulis, I. L. & 190 others, Anton-Culver, H., Arndt, V., Aronson, K. J., Auer, P. L., Barrdahl, M., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brenner, H., Brinton, L., Broberg, P., Brucker, S. Y., Burwinkel, B., Caldés, T., Canzian, F., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chen, X., Cheng, T. Y. D., Christiansen, H., Clarke, C. L., Collée, M., Cornelissen, S., Couch, F. J., Cox, D., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Devilee, P., Doheny, K. F., Dörk, T., Dos-Santos-Silva, I., Dumont, M., Dwek, M., Eccles, D. M., Eilber, U., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fritschi, L., Gabrielson, M., Gago-Dominguez, M., Gapstur, S. M., García-Closas, M., Gaudet, M. M., Ghoussaini, M., Giles, G. G., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Guénel, P., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hallberg, E., Hamann, U., Harrington, P., Hein, A., Hicks, B., Hillemanns, P., Hollestelle, A., Hoover, R. N., Hopper, J. L., Huang, G., Humphreys, K., Hunter, D. J., Jakubowska, A., Janni, W., John, E. M., Johnson, N., Jones, K., Jones, M. E., Jung, A., Kaaks, R., Kerin, M. J., Khusnutdinova, E., Kosma, V. M., Kristensen, V. N., Lambrechts, D., Le Marchand, L., Li, J., Lindström, S., Lissowska, J., Lo, W. Y., Loibl, S., Lubinski, J., Luccarini, C., Lux, M. P., MacInnis, R. J., Maishman, T., Kostovska, I. M., Mannermaa, A., Manson, J. A. E., Margolin, S., Mavroudis, D., Meijers-Heijboer, H., Meindl, A., Menon, U., Meyer, J., Mulligan, A. M., Neuhausen, S. L., Nevanlinna, H., Neven, P., Nielsen, S. F., Nordestgaard, B. G., Olopade, O. I., Olson, J. E., Olsson, H., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Prentice, R., Presneau, N., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rennert, G., Rennert, H. S., Rhenius, V., Romero, A., Romm, J., Rudolph, A., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Scott, R. J., Scott, C. G., Seal, S., Shah, M., Shrubsole, M. J., Smeets, A., Southey, M. C., Spinelli, J. J., Stone, J., Surowy, H., Swerdlow, A. J., Tamimi, R. M., Tapper, W., Taylor, J. A., Terry, M. B., Tessier, D. C., Thomas, A., Thöne, K., Tollenaar, R. A. E. M., Torres, D., Truong, T., Untch, M., Vachon, C., Van Den Berg, D., Vincent, D., Waisfisz, Q., Weinberg, C. R., Wendt, C., Whittemore, A. S., Wildiers, H., Willett, W. C., Winqvist, R., Wolk, A., Xia, L., Yang, X. R., Ziogas, A., Ziv, E., Dunning, A. M., Pharoah, P. D. P., Simard, J., Milne, R. L., Edwards, S. L., Kraft, P., Easton, D. F., Chenevix-Trench, G. & Zheng, W., 01 Jul 2018, In: Nature Genetics. 50, 7, p. 968-978 11 p.

      Research output: Contribution to journal › Article › peer-review

      162 Scopus citations

    • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

      EMBRACE, GEMO Study Collaborators, HEBON & kConFab Investigators, May 2018, In: Human Mutation. 39, 5, p. 593-620 28 p.

      Research output: Contribution to journal › Article › peer-review

      236 Scopus citations
    • 2017

      Association analysis identifies 65 new breast cancer risk loci

      NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators, 02 Nov 2017, In: Nature. 551, 7678, p. 92-94 3 p.

      Research output: Contribution to journal › Article › peer-review

      1025 Scopus citations

    • BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

      kConFab/AOCS Investigators & NBCS Collaborators, 01 Jun 2017, In: Cancer Research. 77, 11, p. 2789-2799 11 p.

      Research output: Contribution to journal › Article › peer-review

      71 Scopus citations

    • Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

      Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Abctctb, I., Adams, M. & Adlard, J. & 461 others, Agata, S., Ahmed, S., Ahsan, H., Aittom, K. Ä., Fares, A. E., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. M., Azzollini, J., François, B., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Anne-Lise, B. D., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Brigitte, B. D. P., Brewer, C., Brinton, L., Broberg, P., Angela, B. W., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. É., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Esteban, C., Castera, L., Virginie, C. M., Chan, S. B., Jenny, C. C., Chanock, S. J., Chen, X., Cheng, T. Y. D., Chiquette, J., Christiansen, H., Claes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D. L., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P. A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler, D. K., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M. H., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S. W., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A. V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Al-Ejeh, F., Margreet, G. M. A., Bacot, F., Børresen-Dale, A. L., Bressac-De, B. P., Brooks-Wilson, A., Castelao, J. E., Caux-Moncoutier, V., Chang-Claude, J., McLaes, K. B., Dieter, F. J., Gschwantler-Kaulich, D., Lecarpentier, J., Lee, A., Lee, E., Won, J. L., Lee, M. H., Lejbkowicz, F., Lesueur, F., Li, J., Lilyquist, J., Lincoln, A., Lindblom, A., Lissowska, J., Lo, W. Y., Loibl, S., Long, J., Loud, J. T., Lubinski, J., Luccarini, C., Lush, M., MacInnis, R. J., Maishman, T., Makalic, E., Kostovska, I. M., Malone, K. E., Siranoush, M., Manson, J. E., Margolin, S., Martens, J. W., Martinez, M. E., Matsuo, K., Mavroudis, D., Mazoyer, S., McLean, C., Meijers-Heijboer, H., Menéndez, P., Meyer, J., Miao, H., Miller, N., Mitchell, G., Montagna, M., Muir, K., Mulligan, A. M., Mulot, C., Nadesan, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Niederacher, D., Nielsen, S. F., Nordestgaard, B. G., Norman, A., Nussbaum, R. L., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., Ong, K. R., Oosterwijk, J. C., Orr, N., Osorio, A., Pankratz, V. S., Papi, L., Park-Simon, T. W., Paulsson-Karlsson, Y., Lloyd, R., Pedersen, I. S., Peissel, B., Peixoto, A., Perez, J. I., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C. M., Pinchev, M., Plaseska-Karanfilska, D., Poppe, B., Porteous, M. E., Prentice, R., Presneau, N., Prokofieva, D., Pugh, E., Pujana, M. A., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Rennert, H. S., Rhenius, V., Rhiem, K., Richardson, A., Rodriguez, G. C., Romero, A., Romm, J., Rookus, M. A., Rudolph, A., Ruediger, T., Saloustros, E., Sanders, J., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schoemaker, M. J., Schumacher, F., Schürmann, P., Schwentner, L., Scott, C., Scott, R. J., Seal, S., Senter, L., Seynaeve, C., Shah, M., Sharma, P., Shen, C. Y., Sheng, X., Shimelis, H., Shrubsole, M. J., Shu, X. O., Side, L. E., Singer, C. F., Sohn, C., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stegmaier, C., Stoppa-Lyonnet, D., Sukiennicki, G., Surowy, H., Sutter, C., Swerdlow, A., Szabo, C. I., Tamimi, R. M., Tan, Y. Y., Taylor, J. A., Tejada, M. I., Tengström, M., Teo, S. H., Terry, M. B., Tessier, D. C., Teul, A. E., Thöne, K., Thull, D. L., Tibiletti, M. G., Tihomirova, L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. M., Tomlinson, I., Tong, L., Torres, D., Tranchant, M., Truong, T., Tucker, K., Tung, N., Tyrer, J., Ulmer, H. U., Vachon, C., Christi, V. A. J., Den Berg, D. V., Ouweland, A. M. V., Van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vega, A., Viel, A., Vijai, J., Vincent, D., Vollenweider, J., Walker, L., Wang, Z., Wang-Gohrke, S., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wesseling, J., Whittemore, A. S., Wijnen, J. T., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yang, X. R., Yannoukakos, D., Zaffaroni, D., Zheng, W., Zhu, B., Ziogas, A., Ziv, E., Zorn, K. K., Gago-Dominguez, M., Mannermaa, A., Olsson, H., Teixeira, M. R., Stone, J., Offit, K., Ottini, L., Park, S. K., Thomassen, M., Hall, P., Meindl, A., Schmutzler, R. K., Droit, A., Bader, G. D., Pharoah, P. D., Couch, F. J., Easton, D. F., Kraft, P., Chenevix-Trench, G., Garciá-Closas, M., Antoniou, A. C. & Simard, J., 01 Dec 2017, In: Nature Genetics. 49, 12, p. 1767-1778 12 p.

      Research output: Contribution to journal › Article › peer-review

      291 Scopus citations

    • Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients

      Torres, D., Lorenzo Bermejo, J., Rashid, M. U., Bricenõ, I., Gil, F., Beltran, A., Ariza, V. & Hamann, U., 01 Dec 2017, In: Scientific Reports. 7, 1, 4713.

      Research output: Contribution to journal › Article › peer-review

      25 Scopus citations
    • 2016

      Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

      NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, kConFab/AOCS Investigators & NBCS Collaborators, 2016, In: Oncotarget. 7, 49, p. 80140-80163 24 p.

      Research output: Contribution to journal › Article › peer-review

      30 Scopus citations

    • Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

      Zhao, Z., Wen, W., Michailidou, K., Bolla, M. K., Wang, Q., Zhang, B., Long, J., Shu, X. O., Schmidt, M. K., Milne, R. L., García-Closas, M., Chang-Claude, J., Lindstrom, S., Bojesen, S. E., Ahsan, H., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V. & Beckmann, M. W. & 98 others, Beeghly-Fadiel, A., Benitez, J., Blomqvist, C., Bogdanova, N. V., Børresen-Dale, A. L., Brand, J., Brauch, H., Brenner, H., Burwinkel, B., Cai, Q., Casey, G., Chenevix-Trench, G., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Dörk, T., Dumont, M., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fostira, F., Gammon, M., Giles, G. G., Guénel, P., Haiman, C. A., Hamann, U., Harrington, P., Hartman, M., Hooning, M. J., Hopper, J. L., Jakubowska, A., Jasmine, F., John, E. M., Johnson, N., Kabisch, M., Khan, S., Kibriya, M., Knight, J. A., Kosma, V. M., Kriege, M., Kristensen, V., Le Marchand, L., Lee, E., Li, J., Lindblom, A., Lophatananon, A., Luben, R., Lubinski, J., Malone, K. E., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., McLean, C., Meijers-Heijboer, H., Meindl, A., Miao, H., Muir, K., Neuhausen, S. L., Nevanlinna, H., Neven, P., Olson, J. E., Perkins, B., Peterlongo, P., Phillips, K. A., Pylkäs, K., Rudolph, A., Santella, R., Sawyer, E. J., Schmutzler, R. K., Schoemaker, M., Shah, M., Shrubsole, M., Southey, M. C., Swerdlow, A. J., Toland, A. E., Tomlinson, I., Torres, D., Truong, T., Ursin, G., Van Der Luijt, R. B., Verhoef, S., Wang-Gohrke, S., Whittemore, A. S., Winqvist, R., Pilar Zamora, M., Zhao, H., Dunning, A. M., Simard, J., Hall, P., Kraft, P., Pharoah, P., Hunter, D., Easton, D. F. & Zheng, W., 01 May 2016, In: Cancer Causes and Control. 27, 5, p. 679-693 15 p.

      Research output: Contribution to journal › Article › peer-review

      24 Scopus citations

    • BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

      Australia Ovarian Cancer Study Group, EMBRACE, OCGN, PRostate cancer Asso Ciation group To Investigate Cancer Associated aLterations in the genome, GEMO Study Collaborators & HEBON, 01 Feb 2016, In: Journal of the National Cancer Institute. 108, 2

      Research output: Contribution to journal › Article › peer-review

      85 Scopus citations

    • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

      Dunning, A. M., Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., Healey, C. S., Kar, S., Pooley, K. A., Lopez-Knowles, E., Dicks, E., Barrowdale, D., Sinnott-Armstrong, N. A., Sallari, R. C., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Marjaneh, M. M., Lee, J. S. & Hills, M. & 228 others, Jarosz, M., Drury, S., Canisius, S., KBolla, M., Dennis, J., Wang, Q., LHopper, J., Southey, M. C., Broeks, A., Schmidt, M. K., Lophatananon, A., Muir, K., Beckmann, M. W., Fasching, P. A., Dos-Santos-Silva, I., Peto, J., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Gonzlez-Neira, A., Perez, J. I. A., Anton-Culver, H., Eunjung, L., Arndt, V., Brenner, H., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Aittomki, K., Blomqvist, C., Ito, H., Matsuo, K., Bogdanova, N., Dörk, T., Lindblom, A., Margolin, S., Kosma, V. M., Mannermaa, A., Tseng, C. C., Wu, A. H., Lambrechts, D., Wildiers, H., Chang-Claude, J., Rudolph, A., Peterlongo, P., Radice, P., EOlson, J., GGiles, G., Milne, R. L., Haiman, C. A., Henderson, B. E., Goldberg, M. S., Teo, S. H., Yip, C. H., Nord, S., Borresen-Dale, A. L., Kristensen, V., Long, J., Zheng, W., Pylks, K., Winqvist, R., Andrulis, I. L., Knight, J. A., Devilee, P., Seynaeve, C., Figueroa, J., Sherman, M. E., Czene, K., Darabi, H., Hollestelle, A., Van Den Ouweland, A. M. W., Humphreys, K., Gao, Y. T., Shu, X. O., Cox, A., Cross, S. S., Blot, W., Cai, Q., Ghoussaini, M., Perkins, B. J., Shah, M., Choi, J. Y., Kang, D., Lee, S. C., Hartman, M., Kabisch, M., Torres, D., Jakubowska, A., Lubinski, J., Brennan, P., Sangrajrang, S., Ambrosone, C. B., Toland, A. E., Shen, C. Y., Wu, P. E., Orr, N., Swerdlow, A., McGuffog, L., Healey, S., Lee, A., Kapuscinski, M., John, E. M., Terry, M. B., Daly, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., Van Rensburg, E. J., Neuhausen, S. L., Ejlertsen, B., OHansen, T. V., Osorio, A., Benitez, J., Rando, R., Weitzel, J. N., Bonanni, B., Peissel, B., Manoukian, S., Papi, L., Ottini, L., Konstantopoulou, I., Apostolou, P., Garber, J., Rashid, M. U., Frost, D., Izatt, L., Ellis, S., Godwin, A. K., Arnold, N., Niederacher, D., Rhiem, K., Bogdanova-Markov, N., Sagne, C., Stoppa-Lyonnet, D., Damiola, F., Sinilnikova, O. M., Mazoyer, S., Isaacs, C., MClaes, K. B., De Leeneer, K., De La Hoya, M., Caldes, T., Nevanlinna, H., Khan, S., Mensenkamp, A. R., Hooning, M. J., Rookus, M. A., Kwong, A., Olah, E., Diez, O., Brunet, J., Pujana, M. A., Gronwald, J., Huzarski, T., Barkardottir, R. B., Laframboise, R., Soucy, P., Montagna, M., Agata, S., Teixeira, M. R., Kyung Park, S., Lindor, N., Couch, F. J., Tischkowitz, M., Foretova, L., Vijai, J., Offit, K., Singer, C. F., Rappaport, C., MPhelan, C., Greene, M. H., Mai, P. L., Rennert, G., Imyanitov, E. N., Hulick, P. J., Phillips, K. A., Piedmonte, M., Mulligan, A. M., Glendon, G., Bojesen, A., Thomassen, M., Caligo, M. A., Yoon, S. Y., Friedman, E., Laitman, Y., Borg, A., Von Wachenfeldt, A., Ehrencrona, H., Rantala, J., Olopade, O. I., Ganz, P. A., Nussbaum, R. L., Gayther, S. A., LNathanson, K., Domchek, S. M., Arun, B. K., Mitchell, G., Karlan, B. Y., Lester, J., Maskarinec, G., Woolcott, C., Scott, C., Stone, J., Apicella, C., Tamimi, R., Luben, R., Khaw, K. T., Helland, S., Haakensen, V., Dowsett, M., Pharoah, P. D. P., Simard, J., Hall, P., Garca-Closas, M., Vachon, C., Chenevix-Trench, G., Antoniou, A. C., Easton, D. F. & Edwards, S. L., 29 Mar 2016, In: Nature Genetics. 48, 4, p. 374-386 13 p.

      Research output: Contribution to journal › Article › peer-review

      120 Scopus citations

    • Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

      Ghoussaini, M., French, J. D., Michailidou, K., Nord, S., Beesley, J., Canisus, S., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Moradi Marjaneh, M., Lee, J. S., Dennis, J., Bolla, M. K., Wang, Q., Dicks, E., Milne, R. L., Hopper, J. L., Southey, M. C., Schmidt, M. K. & Broeks, A. & 103 others, Muir, K., Lophatananon, A., Fasching, P. A., Beckmann, M. W., Fletcher, O., Johnson, N., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Benitez, J., González-Neira, A., Alonso, M. R., Pita, G., Neuhausen, S. L., Anton-Culver, H., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Tessier, D. C., Vincent, D., Nevanlinna, H., Khan, S., Matsuo, K., Ito, H., Dörk, T., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V. M., Wu, A. H., Van Den Berg, D., Lambrechts, D., Floris, G., Chang-Claude, J., Rudolph, A., Radice, P., Barile, M., Couch, F. J., Hallberg, E., Giles, G. G., Haiman, C. A., Le Marchand, L., Goldberg, M. S., Teo, S. H., Yip, C. H., Borresen-Dale, A. L., Zheng, W., Cai, Q., Winqvist, R., Pylkäs, K., Andrulis, I. L., Devilee, P., Tollenaar, R. A. E. M., García-Closas, M., Figueroa, J., Hall, P., Czene, K., Brand, J. S., Darabi, H., Eriksson, M., Hooning, M. J., Koppert, L. B., Li, J., Shu, X. O., Zheng, Y., Cox, A., Cross, S. S., Shah, M., Rhenius, V., Choi, J. Y., Kang, D., Hartman, M., Chia, K. S., Kabisch, M., Torres, D., Luccarini, C., Conroy, D. M., Jakubowska, A., Lubinski, J., Sangrajrang, S., Brennan, P., Olswold, C., Slager, S., Shen, C. Y., Hou, M. F., Swerdlow, A., Schoemaker, M. J., Simard, J., Pharoah, P. D. P., Kristensen, V., Chenevix-Trench, G., Easton, D. F., Dunning, A. M. & Edwards, S. L., 06 Oct 2016, In: American Journal of Human Genetics. 99, 4, p. 903-911 9 p.

      Research output: Contribution to journal › Article › peer-review

      59 Scopus citations

    • Fine-mapping of the 1p11.2 breast cancer susceptibility locus

      Horne, H. N., Chung, C. C., Zhang, H., Yu, K., Prokunina-Olsson, L., Michailidou, K., Bolla, M. K., Wang, Q., Dennis, J., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A., Muir, K., Lophatananon, A., Fasching, P. A., Beckmann, M. W., Fletcher, O., Johnson, N. & Sawyer, E. J. & 94 others, Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Benitez, J., González-Neira, A., Anton-Culver, H., Neuhausen, S. L., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Nevanlinna, H., Khan, S., Matsuo, K., Iwata, H., Dörk, T., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V. M., Chenevix-Trench, G., Wu, A. H., Ven Den Berg, D., Smeets, A., Zhao, H., Chang-Claude, J., Rudolph, A., Radice, P., Barile, M., Couch, F. J., Vachon, C., Giles, G. G., Milne, R. L., Haiman, C. A., Marchand, L. L., Goldberg, M. S., Teo, S. H., Taib, N. A. M., Kristensen, V., Borresen-Dale, A. L., Zheng, W., Shrubsole, M., Winqvist, R., Jukkola-Vuorinen, A., Andrulis, I. L., Knight, J. A., Devilee, P., Seynaeve, C., García-Closas, M., Czene, K., Darabi, H., Hollestelle, A., Martens, J. W. M., Li, J., Lu, W., Shu, X. O., Cox, A., Cross, S. S., Blot, W., Cai, Q., Shah, M., Luccarini, C., Baynes, C., Harrington, P., Kang, D., Choi, J. Y., Hartman, M., Chia, K. S., Kabisch, M., Torres, D., Jakubowska, A., Lubinski, J., Sangrajrang, S., Brennan, P., Slager, S., Yannoukakos, D., Shen, C. Y., Hou, M. F., Swerdlow, A., Orr, N., Simard, J., Hall, P., Pharoah, P. D. P., Easton, D. F., Chanock, S. J., Dunning, A. M. & Figueroa, J. D., Aug 2016, In: PLoS ONE. 11, 8, e0160316.

      Research output: Contribution to journal › Article › peer-review

      11 Scopus citations

    • Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

      kConFab Investigators, 15 Sep 2016, In: International Journal of Cancer. 139, 6, p. 1303-1317 15 p.

      Research output: Contribution to journal › Article › peer-review

      33 Scopus citations

    • 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., Marjaneh, M. M., Soucy, P., Michailidou, K., Ghoussaini, M., Wahl, H. F., Bolla, M. K., Wang, Q., Dennis, J., Alonso, M. R., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Benitez, J. & Bogdanova, N. V. & 94 others, Bojesen, S. E., Brauch, H., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Chang-Claude, J., Choi, J. Y., Conroy, D. M., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Devilee, P., Dörk, T., Easton, D. F., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Galle, E., García-Closas, M., Giles, G. G., Goldberg, M. S., González-Neira, A., Guénel, P., Haiman, C. A., Hallberg, E., Hamann, U., Hartman, M., Hollestelle, A., Hopper, J. L., Ito, H., Jakubowska, A., Johnson, N., Kang, D., Khan, S., Kosma, V. M., Kriege, M., Kristensen, V., Lambrechts, D., Le Marchand, L., Lee, S. C., Lindblom, A., Lophatananon, A., Lubinski, J., Mannermaa, A., Manoukian, S., Margolin, S., Matsuo, K., Mayes, R., McKay, J., Meindl, A., Milne, R. L., Muir, K., Neuhausen, S. L., Nevanlinna, H., Olswold, C., Orr, N., Peterlongo, P., Pita, G., Pylkäs, K., Rudolph, A., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Seynaeve, C., Shah, M., Shen, C. Y., Shu, X. O., Southey, M. C., Stram, D. O., Surowy, H., Swerdlow, A., Teo, S. H., Tessier, D. C., Tomlinson, I., Torres, D., Truong, T., Vachon, C. M., Vincent, D., Winqvist, R., Wu, A. H., Wu, P. E., Yip, C. H., Zheng, W., Pharoah, P. D. P., Hall, P., Edwards, S. L., Simard, J., French, J. D., Chenevix-Trench, G. & Dunning, A. M., 07 Sep 2016, In: Scientific Reports. 6, 32512.

      Research output: Contribution to journal › Article › peer-review

      17 Scopus citations

    • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

      KConFab, The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), EMBRACE, GEMO Study Collaboratorsz & Australian Ovarian Cancer Study Groupz, 07 Sep 2016, In: Nature Communications. 7, 12675.

      Research output: Contribution to journal › Article › peer-review

      65 Scopus citations

    • Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

      Guo, Y., Warren Andersen, S., Shu, X. O., Michailidou, K., Bolla, M. K., Wang, Q., Garcia-Closas, M., Milne, R. L., Schmidt, M. K., Chang-Claude, J., Dunning, A., Bojesen, S. E., Ahsan, H., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Beeghly-Fadiel, A. & Benitez, J. & 91 others, Bogdanova, N. V., Bonanni, B., Børresen-Dale, A. L., Brand, J., Brauch, H., Brenner, H., Brüning, T., Burwinkel, B., Casey, G., Chenevix-Trench, G., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Devilee, P., Dörk, T., Dumont, M., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fostira, F., Gammon, M., Giles, G. G., Guénel, P., Haiman, C. A., Hamann, U., Hooning, M. J., Hopper, J. L., Jakubowska, A., Jasmine, F., Jenkins, M., John, E. M., Johnson, N., Jones, M. E., Kabisch, M., Kibriya, M., Knight, J. A., Koppert, L. B., Kosma, V. M., Kristensen, V., Le Marchand, L., Lee, E., Li, J., Lindblom, A., Luben, R., Lubinski, J., Malone, K. E., Mannermaa, A., Margolin, S., Marme, F., McLean, C., Meijers-Heijboer, H., Meindl, A., Neuhausen, S. L., Nevanlinna, H., Neven, P., Olson, J. E., Perez, J. I. A., Perkins, B., Peterlongo, P., Phillips, K. A., Pylkäs, K., Rudolph, A., Santella, R., Sawyer, E. J., Schmutzler, R. K., Seynaeve, C., Shah, M., Shrubsole, M. J., Southey, M. C., Swerdlow, A. J., Toland, A. E., Tomlinson, I., Torres, D., Truong, T., Ursin, G., Van Der Luijt, R. B., Verhoef, S., Whittemore, A. S., Winqvist, R., Zhao, H., Zhao, S., Hall, P., Simard, J., Kraft, P., Pharoah, P., Hunter, D., Easton, D. F. & Zheng, W., Aug 2016, In: PLoS Medicine. 13, 8, e1002105.

      Research output: Contribution to journal › Article › peer-review

      100 Scopus citations

    • Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

      Lei, J., Rudolph, A., Moysich, K. B., Behrens, S., Goode, E. L., Bolla, M. K., Dennis, J., Dunning, A. M., Easton, D. F., Wang, Q., Benitez, J., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A., Fasching, P. A., Haeberle, L., Peto, J., dos-Santos-Silva, I. & Sawyer, E. J. & 70 others, Tomlinson, I., Burwinkel, B., Marmé, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Nielsen, S. F., Nordestgaard, B. G., González-Neira, A., Menéndez, P., Anton-Culver, H., Neuhausen, S. L., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Nevanlinna, H., Fagerholm, R., Dörk, T., Bogdanova, N. V., Mannermaa, A., Hartikainen, J. M., Australian Ovarian Study Group, O. S. G., kConFab Investigators, I., Van Dijck, L., Smeets, A., Flesch-Janys, D., Eilber, U., Radice, P., Peterlongo, P., Couch, F. J., Hallberg, E., Giles, G. G., Milne, R. L., Haiman, C. A., Schumacher, F., Simard, J., Goldberg, M. S., Kristensen, V., Borresen-Dale, A. L., Zheng, W., Beeghly-Fadiel, A., Winqvist, R., Grip, M., Andrulis, I. L., Glendon, G., García-Closas, M., Figueroa, J., Czene, K., Brand, J. S., Darabi, H., Eriksson, M., Hall, P., Li, J., Cox, A., Cross, S. S., Pharoah, P. D. P., Shah, M., Kabisch, M., Torres, D., Jakubowska, A., Lubinski, J., Ademuyiwa, F., Ambrosone, C. B., Swerdlow, A., Jones, M. & Chang-Claude, J., 01 Jan 2016, In: Human Genetics. 135, 1, p. 137-154 18 p.

      Research output: Contribution to journal › Article › peer-review

      9 Scopus citations

    • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: Implications for gene panel testing

      Australian Ovarian Cancer Study Group, kConFab Investigators, Lifepool Investigators & NBCS Investigators, 26 Feb 2016, In: Journal of Medical Genetics. 53, 5, p. 298-309 12 p.

      Research output: Contribution to journal › Article › peer-review

      90 Scopus citations

    • PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

      kConFab Investigators66 & Australian Ovarian Cancer Study Group65,66, 01 Dec 2016, In: Journal of Medical Genetics. 53, 12, p. 800-811 12 p.

      Research output: Contribution to journal › Article › peer-review

      181 Scopus citations

    • RAD51B in familial breast cancer

      kConFab/AOCS Investigators, 2016, In: PLoS ONE. 11, 5, e0153788.

      Research output: Contribution to journal › Article › peer-review

      20 Scopus citations

    • Rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

      Liu, J., Loncar, I., Colleé, J. M., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Andrulis, I. L., Barile, M., Beckmann, M. W., Behrens, S., Benitez, J., Blomqvist, C., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brennan, P., Brenner, H. & Broeks, A. & 79 others, Burwinkel, B., Chang-Claude, J., Chen, S. T., Chenevix-Trench, G., Cheng, C. Y., Choi, J. Y., Couch, F. J., Cox, A., Cross, S. S., Cuk, K., Czene, K., Dörk, T., Dos-Santos-Silva, I., Fasching, P. A., Figueroa, J., Flyger, H., Garciá-Closas, M., Giles, G. G., Glendon, G., Goldberg, M. S., González-Neira, A., Guénel, P., Haiman, C. A., Hamann, U., Hart, S. N., Hartman, M., Hatse, S., Hopper, J. L., Ito, H., Jakubowska, A., Kabisch, M., Kang, D., Kosma, V. M., Kristensen, V. N., Le Marchand, L., Lee, E., Li, J., Lophatananon, A., Lubinski, J., Mannermaa, A., Matsuo, K., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Orr, N., Perez, J. I. A., Peto, J., Putti, T. C., Pylkäs, K., Radice, P., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schneeweiss, A., Shen, C. Y., Shrubsole, M. J., Shu, X. O., Simard, J., Southey, M. C., Swerdlow, A., Teo, S. H., Tessier, D. C., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tseng, C. C., Vachon, C., Winqvist, R., Wu, A. H., Yannoukakos, D., Zheng, W., Hall, P., Dunning, A. M., Easton, D. F., Hooning, M. J., Van Den Ouweland, A. M. W., Martens, J. W. M. & Hollestelle, A., 15 Nov 2016, In: Scientific Reports. 6, 36874.

      Research output: Contribution to journal › Article › peer-review

      2 Scopus citations
    • 2015

      A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients

      Seibold, P., Schmezer, P., Behrens, S., Michailidou, K., Bolla, M. K., Wang, Q., Flesch-Janys, D., Nevanlinna, H., Fagerholm, R., Aittomäki, K., Blomqvist, C., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Lambrechts, D., Wildiers, H., Kristensen, V. & Alnæs, G. G. & 25 others, Nord, S., Borresen-Dale, A. L., Hooning, M. J., Hollestelle, A., Jager, A., Seynaeve, C., Li, J., Liu, J., Humphreys, K., Dunning, A. M., Rhenius, V., Shah, M., Kabisch, M., Torres, D., Ulmer, H. U., Hamann, U., Schildkraut, J. M., Purrington, K. S., Couch, F. J., Hall, P., Pharoah, P., Easton, D. F., Schmidt, M. K., Chang-Claude, J. & Popanda, O., 16 Dec 2015, In: BMC Cancer. 15, 1, 978.

      Research output: Contribution to journal › Article › peer-review

      9 Scopus citations

    • Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy

      kConFab Investigators, 10 Feb 2015, In: Breast Cancer Research. 17, 1, 18.

      Research output: Contribution to journal › Article › peer-review

      20 Scopus citations

    • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

      The CIMBA Consortium, 07 Apr 2015, In: JAMA - Journal of the American Medical Association. 313, 13, p. 1347-1361 15 p.

      Research output: Contribution to journal › Article › peer-review

      418 Scopus citations

    • Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

      Glubb, D. M., Maranian, M. J., Michailidou, K., Pooley, K. A., Meyer, K. B., Kar, S., Carlebur, S., O'Reilly, M., Betts, J. A., Hillman, K. M., Kaufmann, S., Beesley, J., Canisius, S., Hopper, J. L., Southey, M. C., Tsimiklis, H., Apicella, C., Schmidt, M. K., Broeks, A. & Hogervorst, F. B. & 195 others, Van Der Schoot, C. E., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P. A., Ruebner, M., Ekici, A. B., Beckmann, M. W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Pharoah, P. D. P., Bolla, M. K., Wang, Q., Dennis, J., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Burwinkel, B., Marme, F., Yang, R., Surowy, H., Guénel, P., Truong, T., Menegaux, F., Sanchez, M., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., González-Neira, A., Benitez, J., Zamora, M. P., Arias Perez, J. I., Anton-Culver, H., Neuhausen, S. L., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Meindl, A., Schmutzler, R. K., Brauch, H., Ko, Y. D., Brüning, T., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Matsuo, K., Ito, H., Iwata, H., Tanaka, H., Dörk, T., Bogdanova, N. V., Helbig, S., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., 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, F. J., Olson, J. E., Hallberg, E., Vachon, C., Giles, G. G., Milne, R. L., McLean, C., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Simard, J., Goldberg, M. S., Labrèche, F., Dumont, M., Teo, S. H., Yip, C. H., See, M. H., Cornes, B., Cheng, C. Y., Ikram, M. K., Kristensen, V., Zheng, W., Halverson, S. L., Shrubsole, M., Long, J., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Van Asperen, C. J., García-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Czene, K., Klevebring, D., Darabi, H., Eriksson, M., Hooning, M. J., Hollestelle, A., Martens, J. W. M., Collée, J. M., Hall, P., Li, J., Humphreys, K., Shu, X. O., Lu, W., Gao, Y. T., Cai, H., Cox, A., Cross, S. S., Reed, M. W. R., Blot, W., Signorello, L. B., Cai, Q., Shah, M., Ghoussaini, M., Kang, D., Choi, J. Y., Park, S. K., Noh, D. Y., Hartman, M., Miao, H., Lim, W. Y., 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, A. E., Yannoukakos, D., Shen, C. Y., Wu, P. E., Yu, J. C., Hou, M. F., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Tessier, D. C., Vincent, D., Bacot, F., Luccarini, C., Baynes, C., Ahmed, S., Healey, C. S., Brown, M. A., Ponder, B. A. J., Chenevix-Trench, G., Thompson, D. J., Edwards, S. L., Easton, D. F., Dunning, A. M. & French, J. D., 08 Jan 2015, In: American Journal of Human Genetics. 96, 1, p. 5-20 16 p.

      Research output: Contribution to journal › Article › peer-review

      64 Scopus citations
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