Fergus J Couch

Fergus J Couch, PhD

Chair, Division of Experimental Pathology

1991 …2023

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  • Article

    Functional characterization of 84 PALB2 variants of uncertain significance

    Wiltshire, T., Ducy, M., Foo, T. K., Hu, C., Lee, K. Y., Belur Nagaraj, A., Rodrigue, A., Gomes, T. T., Simard, J., Monteiro, A. N. A., Xia, B., Carvalho, M. A., Masson, J. Y. & Couch, F. J., Mar 1 2020, In: Genetics in Medicine. 22, 3, p. 622-632 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Scopus citations
  • Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

    Wu, K., Hinson, S. R., Ohashi, A., Farrugia, D., Wendt, P., Tavtigian, S. V., Deffenbaugh, A., Goldgar, D. & Couch, F. J., Jan 15 2005, In: Cancer research. 65, 2, p. 417-426 10 p.

    Research output: Contribution to journalArticlepeer-review

    100 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, Sep 7 2016, In: Nature communications. 7, 12675.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    39 Scopus citations
  • Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma

    Sakai, W., Swisher, E. M., Jacquemont, C., Chandramohan, K. V., Couch, F. J., Langdon, S. P., Wurz, K., Higgins, J., Villegas, E. & Taniguchi, T., Aug 15 2009, In: Cancer research. 69, 16, p. 6381-6386 6 p.

    Research output: Contribution to journalArticlepeer-review

    204 Scopus citations
  • Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

    French, J. D., Ghoussaini, M., Edwards, S. L., Meyer, K. B., Michailidou, K., Ahmed, S., Khan, S., Maranian, M. J., O'Reilly, M., Hillman, K. M., Betts, J. A., Carroll, T., Bailey, P. J., Dicks, E., Beesley, J., Tyrer, J., Maia, A. T., Beck, A., Knoblauch, N. W., Chen, C., & 191 othersKraft, P., Barnes, D., González-Neira, A., Alonso, M. R., Herrero, D., Tessier, D. C., Vincent, D., Bacot, F., Luccarini, C., Baynes, C., Conroy, D., Dennis, J., Bolla, M. K., Wang, Q., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A., Verhoef, S., Cornelissen, S., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P. A., Loehberg, C. R., Ekici, A. B., Beckmann, M. W., Peto, J., Dos Santos Silva, I., Johnson, N., Aitken, Z., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guénel, P., Truong, T., Laurent-Puig, P., Menegaux, F., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Zamora, M. P., Arias Perez, J. I., Benitez, J., Anton-Culver, H., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R. K., Engel, C., Brauch, H., Hamann, U., Justenhoven, C., Aaltonen, K., Heikkilä, P., Aittomäki, K., Blomqvist, C., Matsuo, K., Ito, H., Iwata, H., Sueta, A., Bogdanova, N. V., Antonenkova, N. N., Dörk, T., 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., Peeters, S., Smeets, A., Floris, G., Chang-Claude, J., Rudolph, A., Nickels, S., Flesch-Janys, D., Radice, P., Peterlongo, P., Bonanni, B., Sardella, D., Couch, F. J., Wang, X., Pankratz, V. S., Lee, A., Giles, G. G., Severi, G., Baglietto, L., 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., Ng, C. H., Vithana, E. N., Kristensen, V., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Devilee, P., Seynaeve, C., García-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Czene, K., Klevebring, D., Schoof, N., Hooning, M. J., Martens, J. W. M., Collée, J. M., Tilanus-Linthorst, M., Hall, P., Li, J., Liu, J., Humphreys, K., Shu, X. O., Lu, W., Gao, Y. T., Cai, H., Cox, A., Balasubramanian, S. P., Blot, W., Signorello, L. B., Cai, Q., Pharoah, P. D. P., Healey, C. S., Shah, M., Pooley, K. A., Kang, D., Yoo, K. Y., Noh, D. Y., Hartman, M., Miao, H., Sng, J. H., Sim, X., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Sangrajrang, S., Gaborieau, V., McKay, J., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Godwin, A. K., Shen, C. Y., Hsiung, C. N., Wu, P. E., Chen, S. T., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M. J., Ponder, B. A. J., Nevanlinna, H., Brown, M. A., Chenevix-Trench, G., Easton, D. F. & Dunning, A. M., Apr 4 2013, In: American journal of human genetics. 92, 4, p. 489-503 15 p.

    Research output: Contribution to journalArticlepeer-review

    145 Scopus citations
  • Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

    Barrdahl, M., Rudolph, A., Hopper, J. L., Southey, M. C., Broeks, A., Fasching, P. A., Beckmann, M. W., Gago-Dominguez, M., Castelao, J. E., Guénel, P., Truong, T., Bojesen, S. E., Gapstur, S. M., Gaudet, M. M., Brenner, H., Arndt, V., Brauch, H., Hamann, U., Mannermaa, A., Lambrechts, D., & 28 othersJongen, L., Flesch-Janys, D., Thoene, K., Couch, F. J., Giles, G. G., Simard, J., Goldberg, M. S., Figueroa, J., Michailidou, K., Bolla, M. K., Dennis, J., Wang, Q., Eilber, U., Behrens, S., Czene, K., Hall, P., Cox, A., Cross, S., Swerdlow, A., Schoemaker, M. J., Dunning, A. M., Kaaks, R., Pharoah, P. D. P., Schmidt, M., Garcia-Closas, M., Easton, D. F., Milne, R. L. & Chang-Claude, J., Nov 1 2017, In: International Journal of Cancer. 141, 9, p. 1830-1840 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    14 Scopus citations
  • Gene-environment interactions relevant to estrogen and risk of breast cancer: Can gene-environment interactions be detected only among candidate snps from genome-wide association studies?

    Park, J. Y., Choi, J. Y., Choi, J., Chung, S., Song, N., Park, S. K., Han, W., Noh, D. Y., Ahn, S. H., Lee, J. W., Kim, M. K., Jee, S. H., Wen, W., Bolla, M. K., Wang, Q., Dennis, J., Michailidou, K., Shah, M., Conroy, D. M., Harrington, P. A., & 73 othersMayes, R., Czene, K., Hall, P., Teras, L. R., Patel, A. V., Couch, F. J., Olson, J. E., Sawyer, E. J., Roylance, R., Bojesen, S. E., Flyger, H., Lambrechts, D., Baten, A., Matsuo, K., Ito, H., Guénel, P., Truong, T., Keeman, R., Schmidt, M. K., Wu, A. H., Tseng, C. C., Cox, A., Cross, S. S., Investigators, K., Andrulis, I. L., Hopper, J. L., Southey, M. C., Wu, P. E., Shen, C. Y., Fasching, P. A., Ekici, A. B., Muir, K., Lophatananon, A., Brenner, H., Arndt, V., Jones, M. E., Swerdlow, A. J., Hoppe, R., Ko, Y. D., Hartman, M., Li, J., Mannermaa, A., Hartikainen, J. M., Benitez, J., González-Neira, A., Haiman, C. A., Dörk, T., Bogdanova, N. V., Teo, S. H., Taib, N. A. M., Fletcher, O., Johnson, N., Grip, M., Winqvist, R., Blomqvist, C., Nevanlinna, H., Lindblom, A., Wendt, C., Kristensen, V. N., Collaborators, N. B. C. S., Tollenaar, R. A. E. M., Heemskerk-Gerritsen, B. A. M., Radice, P., Bonanni, B., Hamann, U., Manoochehri, M., Lacey, J. V., Martinez, M. E., Dunning, A. M., Pharoah, P. D. P., Easton, D. F., Yoo, K. Y. & Kang, D., May 2 2021, In: Cancers. 13, 10, 2370.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Gene-panel sequencing and the prediction of breast-cancer risk

    Easton, D. F., Pharoah, P. D. P., Antoniou, A. C., Tischkowitz, M., Tavtigian, S. V., Nathanson, K. L., Devilee, P., Meindl, A., Couch, F. J., Southey, M., Goldgar, D. E., Evans, D. G. R., Chenevix-Trench, G., Rahman, N., Robson, M., Domchek, S. M. & Foulkes, W. D., Jun 4 2015, In: New England Journal of Medicine. 372, 23, p. 2243-2257 15 p.

    Research output: Contribution to journalArticlepeer-review

    496 Scopus citations
  • Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

    Pelttari, L. M., Shimelis, H., Toiminen, H., Kvist, A., Törngren, T., Borg, Blomqvist, C., Bützow, R., Couch, F., Aittomäki, K. & Nevanlinna, H., Mar 2018, In: Clinical Genetics. 93, 3, p. 595-602 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13

    Couch, F. J., Rommens, J. M., Neuhausen, S. L., Bélanger, C., Dumont, M., Abel, K., Bell, R., Berry, S., Bogden, R., Cannon-Albright, L., Farid, L., Frye, C., Hattier, T., Janecki, T., Jiang, P., Kehrer, R., Leblanc, J. F., McArthur-Morrison, J., McSweeney, D., Miki, Y., & 22 othersPeng, Y., Samson, C., Schroeder, M., Snyder, S. C., Stringfellow, M., Stroup, C., Swedlund, B., Swensen, J., Teng, D., Thakur, S., Tran, T., Tranchant, M., Welver-Feldhaus, J., Wong, A. K. C., Shizuya, H., Labrie, F., Skolnick, M. H., Goldgar, D. E., Kamb, A., Weber, B. L., Tavtigian, S. V. & Simard, J., Aug 15 1996, In: Genomics. 36, 1, p. 86-99 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    33 Scopus citations
  • Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes

    Purrington, K. S., Visscher, D. W., Wang, C., Yannoukakos, D., Hamann, U., Nevanlinna, H., Cox, A., Giles, G. G., Eckel-Passow, J. E., Lakis, S., Kotoula, V., Fountzilas, G., Kabisch, M., Rüdiger, T., Heikkilä, P., Blomqvist, C., Cross, S. S., Southey, M. C., Olson, J. E., Gilbert, J., & 11 othersDeming-Halverson, S., Kosma, V. M., Clarke, C., Scott, R., Jones, J. L., Zheng, W., Mannermaa, A., Jane Carpenter for ABCTC Investigators, C. F. ABCTC. I., Eccles, D. M., Vachon, C. M. & Couch, F. J., May 1 2016, In: Breast Cancer Research and Treatment. 157, 1, p. 117-131 15 p.

    Research output: Contribution to journalArticlepeer-review

    15 Scopus citations
  • Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

    Lovelock, P. K., Healey, S., Au, W., Sum, E. Y. M., Tesoriero, A., Wong, E. M., Hinson, S., Brinkworth, R., Bekessy, A., Diez, O., Izatt, L., Solomon, E., Jenkins, M., Renard, H., Hopper, J., Waring, P., Tavtigian, S. V., Goldgar, D., Lindeman, G. J., Visvader, J. E., & 6 othersCouch, F. J., Henderson, B. R., Southey, M., Chenevix-Trench, G., Spurdle, A. B. & Brown, M. A., Jan 2006, In: Journal of medical genetics. 43, 1, p. 74-83 10 p.

    Research output: Contribution to journalArticlepeer-review

    34 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 othersBogdanova, 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 journalArticlepeer-review

    Open Access
    54 Scopus citations
  • Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor

    Murphy, S. J., Hart, S. N., Lima, J. F., Kipp, B. R., Klebig, M., Winters, J. L., Szabo, C., Zhang, L., Eckloff, B. W., Petersen, G. M., Scherer, S. E., Gibbs, R. A., McWilliams, R. R., Vasmatzis, G. & Couch, F. J., Nov 2013, In: Gastroenterology. 145, 5, p. 1098-1109.e1

    Research output: Contribution to journalArticlepeer-review

    108 Scopus citations
  • Genetic analysis of early- versus late-stage ovarian tumors

    Shridhar, V., Pandita, A., Avula, R., Staub, J., Calhoun, E., Roche, P., James, C. D., Couch, F. J., Smith, D. I., Iturria, S., Kalli, K., Keeney, G., Cliby, W., Hartmann, L. C., Lee, J., Morrissey, M., Sen, A., Lillie, J., Lu, K., Schmandt, R., & 2 othersMills, G. B. & Bast, R., Aug 1 2001, In: Cancer research. 61, 15, p. 5895-5904 10 p.

    Research output: Contribution to journalArticlepeer-review

    190 Scopus citations
  • Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations.

    Couch, F. J., Garber, J., Kiousis, S., Calzone, K., Hauser, E. R., Merajver, S. D., Frank, T. S., Boehnke, M., Chamberlain, J. S. & Collins, F. S., 1995, In: Journal of the National Cancer Institute. Monographs. 17, p. 9-14 6 p.

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing

    Scherr, C. L., Lindor, N. M., Malo, T. L., Couch, F. J. & Vadaparampil, S. T., Dec 2015, In: Clinical Genetics. 88, 6, p. 523-529 7 p.

    Research output: Contribution to journalArticlepeer-review

    16 Scopus citations
  • Genetic heterogeneity in hereditary breast cancer: Role of BRCA1 and BRCA2

    Rebbeck, T. R., Couch, F. J., Kant, J., Calzone, K., Deshano, M., Peng, Y., Chen, K., Garber, J. E. & Weber, B. L., 1996, In: American journal of human genetics. 59, 3, p. 547-553 7 p.

    Research output: Contribution to journalArticlepeer-review

    80 Scopus citations
  • Genetic heterogeneity in Peutz-Jeghers syndrome

    Boardman, L. A., Couch, F. J., Burgart, L. J., Schwartz, D., Berry, R., McDonnell, S. K., Schaid, D. J., Hartmann, L. C., Schroeder, J. J., Stratakis, C. A. & Thibodeau, S. N., 2000, In: Human mutation. 16, 1, p. 23-30 8 p.

    Research output: Contribution to journalArticlepeer-review

    102 Scopus citations
  • Genetic insights into biological mechanisms governing human ovarian ageing

    China Kadoorie Biobank Collaborative Group, KConFab investigators, The LifeLines Cohort Study, The InterAct consortium, 23andMe Research Team, Biobank-based Integrative Omics Study (BIOS) Consortium, eQTLGen Consortium & The Biobank Japan Project, Aug 19 2021, In: Nature. 596, 7872, p. 393-397 5 p.

    Research output: Contribution to journalArticlepeer-review

  • Genetic modifiers of CHEK2∗1100delC-associated breast cancer risk

    Breast Cancer Association Consortium & KConFab,AOCS Investigators, May 1 2017, In: Genetics in Medicine. 19, 5, p. 599-603 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    36 Scopus citations
  • Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: A genome-wide interaction study

    Rudolph, A., Hein, R., Lindström, S., Beckmann, L., Behrens, S., Liu, J., Aschard, H., Bolla, M. K., Wang, J., Truong, T., Cordina-Duverger, E., Menegaux, F., Brüning, T., Harth, V., Lo, W. Y., Severi, G., Baglietto, L., Southey, M., Chanock, S. J., Lissowska, J., & 34 othersFigueroa, J. D., Eriksson, M., Humpreys, K., Darabi, H., Olson, J. E., Stevens, K. N., Vachon, C. M., Knight, J. A., Glendon, G., Marie Mulligan, A., Ashworth, A., Orr, N., Schoemaker, M., Webb, P. M., Green, A., Parsons, P., Hayward, N., Whiteman, D., Guenel, P., Brauch, H., Giles, G., Garca-Closas, M., Czene, K., Chenevix-Trench, G., Couch, F. J., Andrulis, I. L., Swerdlow, A., Hunter, D. J., Flesch-Janys, D., Easton, D. F., Hall, P., Nevanlinna, H., Kraft, P. & Chang-Claude, J., Dec 1 2013, In: Endocrine-Related Cancer. 20, 6, p. 875-887 13 p.

    Research output: Contribution to journalArticlepeer-review

    18 Scopus citations
  • Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

    Painter, J. N., O'Mara, T. A., Morris, A. P., Cheng, T. H. T., Gorman, M., Martin, L., Hodson, S., Jones, A., Martin, N. G., Gordon, S., Henders, A. K., Attia, J., McEvoy, M., Holliday, E. G., Scott, R. J., Webb, P. M., Fasching, P. A., Beckmann, M. W., Ekici, A. B., Hein, A., & 56 othersRübner, M., Hall, P., Czene, K., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I., Lambrechts, D., Amant, F., Annibali, D., Depreeuw, J., Vanderstichele, A., Goode, E. L., Cunningham, J. M., Dowdy, S. C., Winham, S. J., Trovik, J., Hoivik, E., Werner, H. M. J., Krakstad, C., Ashton, K., Otton, G., Proietto, T., Tham, E., Mints, M., Ahmed, S., Healey, C. S., Shah, M., Pharoah, P. D. P., Dunning, A. M., Dennis, J., Bolla, M. K., Michailidou, K., Wang, Q., Tyrer, J. P., Hopper, J. L., Peto, J., Swerdlow, A. J., Burwinkel, B., Brenner, H., Meindl, A., Brauch, H., Lindblom, A., Chang-Claude, J., Couch, F. J., Giles, G. G., Kristensen, V. N., Cox, A., Zondervan, K. T., Nyholt, D. R., MacGregor, S., Montgomery, G. W., Tomlinson, I., Easton, D. F., Thompson, D. J. & Spurdle, A. B., May 2018, In: Cancer medicine. 7, 5, p. 1978-1987 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    26 Scopus citations
  • Genetic predictors of chemotherapy‐induced peripheral neuropathy from paclitaxel, carboplatin and oxaliplatin: Ncctg/alliance n08c1, n08ca and n08cb study

    Adjei, A. A., Lopez, C. L., Schaid, D. J., Sloan, J. A., Le‐rademacher, J. G., Loprinzi, C. L., Norman, A. D., Olson, J. E., Couch, F. J., Beutler, A. S., Vachon, C. M. & Ruddy, K. J., Mar 1 2021, In: Cancers. 13, 5, p. 1-18 18 p., 1084.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer

    Ruddy, K. J., Schaid, D. J., Partridge, A. H., Larson, N. B., Batzler, A., Häberle, L., Dittrich, R., Widschwendter, P., Fink, V., Bauer, E., Schwitulla, J., Rübner, M., Ekici, A. B., Aivazova-Fuchs, V., Stewart, E. A., Beckmann, M. W., Ginsburg, E., Wang, L., Weinshilboum, R. M., Couch, F. J., & 4 othersJanni, W., Rack, B., Vachon, C. & Fasching, P. A., Oct 2019, In: Fertility and sterility. 112, 4, p. 731-739.e1

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Genetic predisposition to ductal carcinoma in situ of the breast

    Petridis, C., Brook, M. N., Shah, V., Kohut, K., Gorman, P., Caneppele, M., Levi, D., Papouli, E., Orr, N., Cox, A., Cross, S. S., dos-Santos-Silva, I., Peto, J., Swerdlow, A., Schoemaker, M. J., Bolla, M. K., Wang, Q., Dennis, J., Michailidou, K., Benitez, J., & 75 othersGonzález-Neira, A., Tessier, D. C., Vincent, D., Li, J., Figueroa, J., Kristensen, V., Borresen-Dale, A. L., Soucy, P., Simard, J., Milne, R. L., Giles, G. G., Margolin, S., Lindblom, A., Brüning, T., Brauch, H., Southey, M. C., Hopper, J. L., Dörk, T., Bogdanova, N. V., Kabisch, M., Hamann, U., Schmutzler, R. K., Meindl, A., Brenner, H., Arndt, V., Winqvist, R., Pylkäs, K., Fasching, P. A., Beckmann, M. W., Lubinski, J., Jakubowska, A., Mulligan, A. M., Andrulis, I. L., Tollenaar, R. A. E. M., Devilee, P., Le Marchand, L., Haiman, C. A., Mannermaa, A., Kosma, V. M., Radice, P., Peterlongo, P., Marme, F., Burwinkel, B., van Deurzen, C. H. M., Hollestelle, A., Miller, N., Kerin, M. J., Lambrechts, D., Floris, G., Wesseling, J., Flyger, H., Bojesen, S. E., Yao, S., Ambrosone, C. B., Chenevix-Trench, G., Truong, T., Guénel, P., Rudolph, A., Chang-Claude, J., Nevanlinna, H., Blomqvist, C., Czene, K., Brand, J. S., Olson, J. E., Couch, F. J., Dunning, A. M., Hall, P., Easton, D. F., Pharoah, P. D. P., Pinder, S. E., Schmidt, M. K., Tomlinson, I., Roylance, R., García-Closas, M. & Sawyer, E. J., Feb 17 2016, In: Breast Cancer Research. 18, 1, 22.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    30 Scopus citations
  • Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

    Sawyer, E., Roylance, R., Petridis, C., Brook, M. N., Nowinski, S., Papouli, E., Fletcher, O., Pinder, S., Hanby, A., Kohut, K., Gorman, P., Caneppele, M., Peto, J., dos Santos Silva, I., Johnson, N., Swann, R., Dwek, M., Perkins, K. A., Gillett, C., Houlston, R., & 132 othersRoss, G., De Ieso, P., Southey, M. C., Hopper, J. L., Provenzano, E., Apicella, C., Wesseling, J., Cornelissen, S., Keeman, R., Fasching, P. A., Jud, S. M., Ekici, A. B., Beckmann, M. W., Kerin, M. J., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guénel, P., Truong, T., Laurent-Puig, P., Kerbrat, P., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Perez, J. I. A., Menéndez, P., Benitez, J., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R. K., Lochmann, M., Brauch, H., Fischer, H. P., Ko, Y. D., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Bogdanova, N. V., Dörk, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Chenevix-Trench, G., Lambrechts, D., Weltens, C., Van Limbergen, E., Hatse, S., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Bonanni, B., Volorio, S., Giles, G. G., Severi, G., Baglietto, L., Mclean, C. A., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Simard, J., Goldberg, M. S., Labrèche, F., Dumont, M., Kristensen, V., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Devillee, P., Tollenaar, R. A. E. M., Seynaeve, C. M., Kriege, M., Figueroa, J., Chanock, S. J., Sherman, M. E., Hooning, M. J., Hollestelle, A., van den Ouweland, A. M. W., van Deurzen, C. H. M., Li, J., Czene, K., Humphreys, K., Cox, A., Cross, S. S., Reed, M. W. R., Shah, M., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M., Couch, F. J., Hallberg, E., González-Neira, A., Pita, G., Alonso, M. R., Tessier, D. C., Vincent, D., Bacot, F., Bolla, M. K., Wang, Q., Dennis, J., Michailidou, K., Dunning, A. M., Hall, P., Easton, D., Pharoah, P., Schmidt, M. K., Tomlinson, I. & Garcia-Closas, M., Apr 2014, In: PLoS genetics. 10, 4, e1004285.

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    31 Scopus citations
  • Genetic Risk of Second Primary Cancer in Breast Cancer Survivors: The Multiethnic Cohort Study

    Chen, F., Park, S. L., Wilkens, L. R., Wan, P., Hart, S. N., Hu, C., Yadav, S., Couch, F. J., Conti, D. V., de Smith, A. J. & Haiman, C. A., Sep 15 2022, In: Cancer research. 82, 18, p. 3201-3208 8 p.

    Research output: Contribution to journalArticlepeer-review

  • Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer

    Painter, J. N., O'Mara, T. A., Marquart, L., Webb, P. M., Attia, J., Medland, S. E., Cheng, T., Dennis, J., Holliday, E. G., McEvoy, M., Scott, R. J., Ahmed, S., Healey, C. S., Shah, M., Gorman, M., Martin, L., Hodgson, S. V., Beckmann, M. W., Ekici, A. B., Fasching, P. A., & 52 othersHein, A., Rübner, M., Czene, K., Darabi, H., Hall, P., Li, J., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I. B., Amant, F., Annibali, D., Depreeuw, J., Lambrechts, D., Neven, P., Cunningham, J. M., Dowdy, S. C., Goode, E. L., Fridley, B. L., Winham, S. J., Njølstad, T. S., Salvesen, H. B., Trovik, J., Werner, H. M. J., Ashton, K. A., Otton, G., Proietto, A., Mints, M., Tham, E., Bolla, M. K., Michailidou, K., Wang, Q., Tyrer, J. P., Hopper, J. L., Peto, J., Swerdlow, A. J., Burwinkel, B., Brenner, H., Meindl, A., Brauch, H., Lindblom, A., Chang-Claude, J., Couch, F. J., Giles, G. G., Kristensen, V. N., Cox, A., Pharoah, P. D. P., Tomlinson, I., Dunning, A. M., Easton, D. F., Thompson, D. J. & Spurdle, A. B., Nov 1 2016, In: Cancer Epidemiology Biomarkers and Prevention. 25, 11, p. 1503-1510 8 p.

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    26 Scopus citations
  • Genetics of the FANCA gene in familial pancreatic cancer.

    Rogers, C. D., Couch, F. J., Brune, K., Martin, S. T., Philips, J., Murphy, K. M., Petersen, G., Yeo, C. J., Hruban, R. H. & Goggins, M., Dec 2004, In: Journal of medical genetics. 41, 12, p. e126

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Scopus citations
  • Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma

    Opstal-Van Winden, A. W. J., De Haan, H. G., Hauptmann, M., Schmidt, M. K., Broeks, A., Russell, N. S., Janus, C. P. M., Krol, A. D. G., Van Der Baan, F. H., De Bruin, M. L., Van Eggermond, A. M., Dennis, J., Anton-Culver, H., Haiman, C. A., Sawyer, E. J., Cox, A., Devilee, P., Hooning, M. J., Peto, J., Couch, F. J., & 10 othersPharoah, P., Orr, N., Easton, D. F., Aleman, B. M. P., Strong, L. C., Bhatia, S., Cooke, R., Robison, L. L., Swerdlow, A. J. & Van Leeuwen, F. E., 2019, In: Blood. 133, 10, p. 1130-1139 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group

    Nielsen, S. M., Eccles, D. M., Romero, I. L., Al-Mulla, F., Balmaña, J., Biancolella, M., Blok, R., Caligo, M. A., Calvello, M., Capone, G. L., Cavalli, P., Chan, T. L. C., Claes, K. B. M., Cortesi, L., Couch, F. J., de la Hoya, M., De Toffol, S., Diez, O., Domchek, S. M., Eeles, R., & 45 othersEfremidis, A., Fostira, F., Goldgar, D., Hadjisavvas, A., Hansen, T. V. O., Hirasawa, A., Houdayer, C., Kleiblova, P., Krieger, S., Lázaro, C., Loizidou, M., Manoukian, S., Mensenkamp, A. R., Moghadasi, S., Monteiro, A. N., Mori, L., Morrow, A., Naldi, N., Nielsen, H. R., Olopade, O. I., Pachter, N. S., Palmero, E. I., Pedersen, I. S., Piane, M., Puzzo, M., Robson, M., Rossing, M., Sini, M. C., Solano, A., Soukupova, J., Tedaldi, G., Teixeira, M., Thomassen, M., Tibiletti, M. G., Toland, A., Törngren, T., Vaccari, E., Varesco, L., Vega, A., Wallis, Y., Wappenschmidt, B., Weitzel, J., Spurdle, A. B., De Nicolo, A. & Gómez-García, E. B., 2018, In: JCO Precision Oncology. 2

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    Open Access
    13 Scopus citations
  • Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    Ramus, S. J., Kartsonaki, C., Gayther, S. A., Pharoah, P. D. P., Sinilnikova, O. M., Beesley, J., Chen, X., McGuffog, L., Healey, S., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Allavena, A., & 133 othersOttini, L., Papi, L., Gismondi, V., Capra, F., Radice, P., Greene, M. H., Mai, P. L., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A. M., Kruse, T. A., Cruger, D., Jensen, U. B., Caligo, M. A., Olsson, H., Kristoffersson, U., Lindblom, A., Arver, B., Karlsson, P., Stenmark Askmalm, M., Borg, A., Neuhausen, S. L., Ding, Y. C., Nathanson, K. L., Domchek, S. M., Jakubowska, A., Lubiński, J., Huzarski, T., Byrski, T., Gronwald, J., Górski, B., Cybulski, C., Dbniak, T., Osorio, A., Durán, M., Tejada, M. I., Benítez, J., Hamann, U., Rookus, M. A., Verhoef, S., Tilanus-Linthorst, M. A., Vreeswijk, M. P., Bodmer, D., Ausems, M. G. E. M., Van Os, T. A., Asperen, C. J., Blok, M. J., Meijers-Heijboer, H. E. J., Peock, S., Cook, M., Oliver, C., Frost, D., Dunning, A. M., Evans, D. G., Eeles, R., Pichert, G., Cole, T., Hodgson, S., Brewer, C., Morrison, P. J., Porteous, M., Kennedy, M. J., Rogers, M. T., Side, L. E., Donaldson, A., Gregory, H., Godwin, A., Stoppa-Lyonnet, D., Moncoutier, V., Castera, L., Mazoyer, S., Barjhoux, L., Bonadona, V., Leroux, D., Faivre, L., Lidereau, R., Nogues, C., Bignon, Y. J., Prieur, F., Collonge-Rame, M. A., Venat-Bouvet, L., Fert-Ferrer, S., Miron, A., Buys, S. S., Hopper, J. L., Daly, M. B., John, E. M., Terry, M. B., Goldgar, D., Hansen, T. V. O., Jønson, L., Ejlertsen, B., Agnarsson, B. A., Offit, K., Kirchhoff, T., Vijai, J., Dutra-Clarke, A. V. C., Przybylo, J. A., Montagna, M., Casella, C., Imyanitov, E. N., Janavicius, R., Blanco, I., Lázaro, C., Moysich, K. B., Karlan, B. Y., Gross, J., Beattie, M. S., Schmutzler, R., Wappenschmidt, B., Meindl, A., Ruehl, I., Fiebig, B., Sutter, C., Arnold, N., Deissler, H., Varon-Mateeva, R., Kast, K., Niederacher, D., Gadzicki, D., Caldes, T., De La Hoya, M., Nevanlinna, H., Aittomäki, K., Simard, J., Soucy, P., Spurdle, A. B., Holland, H., Chenevix-Trench, G., Easton, D. F. & Antoniou, A. C., Jan 19 2011, In: Journal of the National Cancer Institute. 103, 2, p. 105-116 12 p.

    Research output: Contribution to journalArticlepeer-review

    34 Scopus citations
  • Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

    The GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, KConFab investigators & Australian Ovarian Cancer Study Group, 2014, In: Breast Cancer Research. 16, 1, R51.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations
  • Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers

    Neuhausen, S. L., Brummel, S., Ding, Y. C., Steele, L., Nathanson, K. L., Domchek, S., Rebbeck, T. R., Singer, C. F., Pfeiler, G., Lynch, H. T., Garber, J. E., Couch, F., Weitzel, J. N., Godwin, A., Narod, S. A., Ganz, P. A., Daly, M. B., Isaacs, C., Olopade, O. I., Tomlinson, G. E., & 4 othersRubinstein, W. S., Tung, N., Blum, J. L. & Gillen, D. L., Aug 2011, In: Cancer Epidemiology Biomarkers and Prevention. 20, 8, p. 1690-1702 13 p.

    Research output: Contribution to journalArticlepeer-review

    16 Scopus citations
  • Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers

    Neuhausen, S. L., Brummel, S., Ding, Y. C., Singer, C. F., Pfeiler, G., Lynch, H. T., Nathanson, K. L., Rebbeck, T. R., Garber, J. E., Couch, F., Weitzel, J., Narod, S. A., Ganz, P. A., Daly, M. B., Godwin, A. K., Isaacs, C., Olopade, O. I., Tomlinson, G., Rubinstein, W. S., Tung, N., & 2 othersBlum, J. L. & Gillen, D. L., Oct 20 2009, In: Breast Cancer Research. 11, 5, R76.

    Research output: Contribution to journalArticlepeer-review

    38 Scopus citations
  • Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

    The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, ABCTB Investigators, KConFab investigators, The GENICA Network, The GENICA Network & The GENICA Network, Nov 15 2014, In: Human molecular genetics. 23, 22, p. 6034-6046 13 p.

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    Open Access
    11 Scopus citations
  • Genetic variation in stromal proteins decorin and lumican with breast cancer: Investigations in two case-control studies

    Kelemen, L. E., Couch, F. J., Ahmed, S., Dunning, A. M., Pharoah, P. D. P., Easton, D. F., Fredericksen, Z. S., Vierkant, R. A., Pankratz, V. S., Goode, E. L., Scott, C. G., Rider, D. N., Wang, X., Cerhan, J. R. & Vachon, C. M., Nov 26 2008, In: Breast Cancer Research. 10, 6, R98.

    Research output: Contribution to journalArticlepeer-review

    36 Scopus citations
  • Genetic variation in the chromosome 17q23 amplicon and breast cancer risk

    Kelemen, L. E., Wang, X., Fredericksen, Z. S., Pankratz, V. S., Pharoah, P. D. P., Ahmed, S., Dunning, A. M., Easton, D. F., Vierkant, R. A., Cerhan, J. R., Goode, E. L., Olson, J. E. & Couch, F. J., Jun 2009, In: Cancer Epidemiology Biomarkers and Prevention. 18, 6, p. 1864-1868 5 p.

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    Open Access
    25 Scopus citations
  • Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer

    Li, J., Eriksson, L., Humphreys, K., Czene, K., Liu, J., Tamimi, R. M., Lindström, S., Hunter, D. J., Vachon, C. M., Couch, F. J., Scott, C. G., Lagiou, P. & Hall, P., Mar 9 2010, In: Breast Cancer Research. 12, 2, R19.

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    16 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 othersTomlinson, 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., Jan 1 2016, In: Human genetics. 135, 1, p. 137-154 18 p.

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    Open Access
    7 Scopus citations
  • Genetic variations and health-related quality of life (HRQOL): A genome-wide study approach

    Adjei, A. A., Lopez, C. L., Schaid, D. J., Sloan, J. A., Le-Rademacher, J. G., Loprinzi, C. L., Norman, A. D., Olson, J. E., Couch, F. J., Beutler, A. S., Vachon, C. M. & Ruddy, K. J., Feb 2 2021, In: Cancers. 13, 4, p. 1-15 15 p., 716.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci

    NBCS Investigators, Dec 2022, In: Breast Cancer Research. 24, 1, 27.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genome-wide association analysis identifies three new breast cancer susceptibility loci

    Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M. K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M. K., Luccarini, C., Baynes, C., Conroy, D., Maranian, M., Ahmed, S., Driver, K., Johnson, N., Orr, N., Dos Santos Silva, I., Waisfisz, Q., Meijers-Heijboer, H., & 162 othersUitterlinden, A. G., Rivadeneira, F., Hall, P., Czene, K., Irwanto, A., Liu, J., Nevanlinna, H., Aittom Currency Signki, K., Blomqvist, C., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lichtner, P., Chang-Claude, J., Hein, R., Nickels, S., Flesch-Janys, D., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Hopper, J. L., Apicella, C., Park, D. J., Southey, M., Hunter, D. J., Chanock, S. J., Broeks, A., Verhoef, S., Hogervorst, F. B. L., Fasching, P. A., Lux, M. P., Beckmann, M. W., Ekici, A. B., Sawyer, E., Tomlinson, I., Kerin, M., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guénel, P., Truong, T., Cordina-Duverger, E., Menegaux, F., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Alonso, M. R., Gonzlez-Neira, A., Ben-tez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C. C., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Justenhoven, C., Brauch, H., Brüning, T., Shan, W. G., Eilber, U., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N. V., Antonenkova, N. N., Rogov, Y. I., Karstens, J. H., Bermisheva, M., Prokofieva, D., Khusnutdinova, E., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Lambrechts, D., Yesilyurt, B. T., Floris, G., Leunen, K., Manoukian, S., Bonanni, B., Fortuzzi, S., Peterlongo, P., Couch, F. J., Wang, X., Stevens, K., Lee, A., Giles, G. G., Baglietto, L., Severi, G., McLean, C., Alnæs, G. G., Kristensen, V., Bcrrensen-Dale, A. L., John, E. M., Miron, A., Winqvist, R., Pylk Currency Signs, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I. L., Glendon, G., Mulligan, A. M., Devilee, P., Van Asperen, C. J., Tollenaar, R. A. E. M., Seynaeve, C., Figueroa, J. D., Garcia-Closas, M., Brinton, L., Lissowska, J., Hooning, M. J., Hollestelle, A., Oldenburg, R. A., Van Den Ouweland, A. M. W., Cox, A., Reed, M. W. R., Shah, M., Jakubowska, A., Jan, L., Jaworska, K., Durda, K., Jones, M., Schoemaker, M., Ashworth, A., Swerdlow, A., Beesley, J., Chen, X., Muir, K. R., Lophatananon, A., Rattanamongkongul, S., Chaiwerawattana, A., Kang, D., Yoo, K. Y., Noh, D. Y., Shen, C. Y., Yu, J. C., Wu, P. E., Hsiung, C. N., Perkins, A., Swann, R., Velentzis, L., Eccles, D. M., Tapper, W. J., Gerty, S. M., Graham, N. J., Ponder, B. A. J., Chenevix-Trench, G., Pharoah, P. D. P., Lathrop, M., Dunning, A. M., Rahman, N., Peto, J. & Easton, D. F., Mar 2012, In: Nature Genetics. 44, 3, p. 312-318 7 p.

    Research output: Contribution to journalArticlepeer-review

    218 Scopus citations
  • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

    Michailidou, K., Beesley, J., Lindstrom, S., Canisius, S., Dennis, J., Lush, M. J., Maranian, M. J., Bolla, M. K., Wang, Q., Shah, M., Perkins, B. J., Czene, K., Eriksson, M., Darabi, H., Brand, J. S., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Nielsen, S. F., Rahman, N., & 223 othersTurnbull, C., Fletcher, O., Peto, J., Gibson, L., Dos-Santos-Silva, I., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Eilber, U., Behrens, S., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Khan, S., Aaltonen, K., Ahsan, H., Kibriya, M. G., Whittemore, A. S., John, E. M., Malone, K. E., Gammon, M. D., Santella, R. M., Ursin, G., Makalic, E., Schmidt, D. F., Casey, G., Hunter, D. J., Gapstur, S. M., Gaudet, M. M., Diver, W. R., Haiman, C. A., Schumacher, F., Henderson, B. E., Le Marchand, L., Berg, C. D., Chanock, S. J., Figueroa, J., Hoover, R. N., Lambrechts, D., Neven, P., Wildiers, H., Van Limbergen, E., Schmidt, M. K., Broeks, A., Verhoef, S., Cornelissen, S., Couch, F. J., Olson, J. E., Hallberg, E., Vachon, C., Waisfisz, Q., Meijers-Heijboer, H., Adank, M. A., Van Der Luijt, R. B., Li, J., Liu, J., Humphreys, K., Kang, D., Choi, J. Y., Park, S. K., Yoo, K. Y., Matsuo, K., Ito, H., Iwata, H., Tajima, K., Guénel, P., Truong, T., Mulot, C., Sanchez, M., Burwinkel, B., Marme, F., Surowy, H., Sohn, C., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., González-Neira, A., Benitez, J., Pilar Zamora, M., Perez, J. I. A., Shu, X. O., Lu, W., Gao, Y. T., Cai, H., Cox, A., Cross, S. S., Reed, M. W. R., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Lindblom, A., Margolin, S., Teo, S. H., Yip, C. H., Taib, N. A. M., Tan, G. H., Hooning, M. J., Hollestelle, A., Martens, J. W. M., Margriet Collée, J., Blot, W., Signorello, L. B., Cai, Q., Hopper, J. L., Southey, M. C., Tsimiklis, H., Apicella, C., Shen, C. Y., Hsiung, C. N., Wu, P. E., Hou, M. F., Kristensen, V. N., Nord, S., Alnaes, G. I. G., Giles, G. G., Milne, R. L., McLean, C., Canzian, F., Trichopoulos, D., Peeters, P., Lund, E., Sund, M., Khaw, K. T., Gunter, M. J., Palli, D., Mortensen, L. M., Dossus, L., Huerta, J. M., Meindl, A., Schmutzler, R. K., Sutter, C., Yang, R., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Hartman, M., Miao, H., Chia, K. S., Chan, C. W., Fasching, P. A., Hein, A., Beckmann, M. W., Haeberle, L., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Ashworth, A., Orr, N., Schoemaker, M. J., Swerdlow, A. J., Brinton, L., Garcia-Closas, M., Zheng, W., Halverson, S. L., Shrubsole, M., Long, J., Goldberg, M. S., Labrèche, F., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Brauch, H., Hamann, U., Brüning, T., Radice, P., Peterlongo, P., Manoukian, S., Bernard, L., Bogdanova, N. V., Dörk, T., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Van Asperen, C. J., Jakubowska, A., Lubinski, J., Jaworska, K., Huzarski, T., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Kabisch, M., Torres, D., Neuhausen, S. L., Anton-Culver, H., Luccarini, C., Baynes, C., Ahmed, S., Healey, C. S., Tessier, D. C., Vincent, D., Bacot, F., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Simard, J., Pharoah, P. P. D. P., Kraft, P., Dunning, A. M., Chenevix-Trench, G., Hall, P. & Easton, D. F., Apr 28 2015, In: Nature Genetics. 47, 4, p. 373-380 8 p.

    Research output: Contribution to journalArticlepeer-review

    333 Scopus citations
  • 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, Dec 1 2019, In: Nature communications. 10, 1, 1741.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    21 Scopus citations
  • Genome-wide association studies identify four ER negative-specific breast cancer risk loci

    Garcia-Closas, M., Couch, F. J., Lindstrom, S., Michailidou, K., Schmidt, M. K., Brook, M. N., Orr, N., Rhie, S. K., Riboli, E., Feigelson, H. S., Le Marchand, L., Buring, J. E., Eccles, D., Miron, P., Fasching, P. A., Brauch, H., Chang-Claude, J., Carpenter, J., Godwin, A. K., Nevanlinna, H., & 250 othersGiles, G. G., Cox, A., Hopper, J. L., Bolla, M. K., Wang, Q., Dennis, J., Dicks, E., Howat, W. J., Schoof, N., Bojesen, S. E., Lambrechts, D., Broeks, A., Andrulis, I. L., Guénel, P., Burwinkel, B., Sawyer, E. J., Hollestelle, A., Fletcher, O., Winqvist, R., Brenner, H., Mannermaa, A., Hamann, U., Meindl, A., Lindblom, A., Zheng, W., Devillee, P., Goldberg, M. S., Lubinski, J., Kristensen, V., Swerdlow, A., Anton-Culver, H., Dörk, T., Muir, K., Matsuo, K., Wu, A. H., Radice, P., Teo, S. H., Shu, X. O., Blot, W., Kang, D., Hartman, M., Sangrajrang, S., Shen, C. Y., Southey, M. C., Park, D. J., Hammet, F., Stone, J., Veer, L. J. V. T., Rutgers, E. J., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Peto, J., Schrauder, M. G., Ekici, A. B., Beckmann, M. W., Dos Santos Silva, I., Johnson, N., Warren, H., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Schneeweiss, A., Sohn, C., Truong, T., Laurent-Puig, P., Kerbrat, P., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Perez, J. I. A., Menéndez, P., Müller, H., Arndt, V., Stegmaier, C., Lichtner, P., Lochmann, M., Justenhoven, C., Ko, Y. D., Muranen, T. A., Aittomäki, K., Blomqvist, C., Greco, D., Heikkinen, T., Ito, H., Iwata, H., Yatabe, Y., Antonenkova, N. N., Margolin, S., Kataja, V., Kosma, V. M., Hartikainen, J. M., Balleine, R., Tseng, C. C., Berg, D. V. D., Stram, D. O., Neven, P., Dieudonné, A. S., Leunen, K., Rudolph, A., Nickels, S., Flesch-Janys, D., Peterlongo, P., Peissel, B., Bernard, L., Olson, J. E., Wang, X., Stevens, K., Severi, G., Baglietto, L., McLean, C., Coetzee, G. A., Feng, Y., Henderson, B. E., Schumacher, F., Bogdanova, N. V., Labrèche, F., Dumont, M., Yip, C. H., Taib, N. A. M., Cheng, C. Y., Shrubsole, M., Long, J., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Knight, J. A., Glendon, G., Mulligan, A. M., Tollenaar, R. A. E. M., Seynaeve, C. M., Kriege, M., Hooning, M. J., Van Den Ouweland, A. M. W., Van Deurzen, C. H. M., Lu, W., Gao, Y. T., Cai, H., Balasubramanian, S. P., Cross, S. S., Reed, M. W. R., Signorello, L., Cai, Q., Shah, M., Miao, H., Chan, C. W., Chia, K. S., Jakubowska, A., Jaworska, K., Durda, K., Hsiung, C. N., Wu, P. E., Yu, J. C., Ashworth, A., Jones, M., Tessier, D. C., González-Neira, A., Pita, G., Alonso, M. R., Vincent, D., Bacot, F., Ambrosone, C. B., Bandera, E. V., John, E. M., Chen, G. K., Hu, J. J., Rodriguez-Gil, J. L., Bernstein, L., Press, M. F., Ziegler, R. G., Millikan, R. M., Deming-Halverson, S. L., Nyante, S., Ingles, S. A., Waisfisz, Q., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Gibson, L., Müller-Myhsok, B., Schmutzler, R. K., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Czene, K., Irwanto, A., Liu, J., Turnbull, C., Rahman, N., Meijers-Heijboer, H., Uitterlinden, A. G., Rivadeneira, F., Olswold, C., Slager, S., Pilarski, R., Ademuyiwa, F., Konstantopoulou, I., Martin, N. G., Montgomery, G. W., Slamon, D. J., Rauh, C., Lux, M. P., Jud, S. M., Bruning, T., Weaver, J., Sharma, P., Pathak, H., Tapper, W., Gerty, S., Durcan, L., Trichopoulos, D., Tumino, R., Peeters, P. H., Kaaks, R., Campa, D., Canzian, F., Weiderpass, E., Johansson, M., Khaw, K. T., Travis, R., Clavel-Chapelon, F., Kolonel, L. N., Chen, C., Beck, A., Hankinson, S. E., Berg, C. D., Hoover, R. N., Lissowska, J., Figueroa, J. D., Chasman, D. I., Gaudet, M. M., Diver, W. R., Willett, W. C., Hunter, D. J., Simard, J., Benitez, J., Dunning, A. M., Sherman, M. E., Chenevix-Trench, G., Chanock, S. J., Hall, P., Pharoah, P. D. P., Vachon, C., Easton, D. F., Haiman, C. A. & Kraft, P., Apr 2013, In: Nature Genetics. 45, 4, p. 392-398 7 p.

    Research output: Contribution to journalArticlepeer-review

    288 Scopus citations
  • Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

    Purrington, K. S., Slager, S., Eccles, D., Yannoukakos, D., Fasching, P. A., Miron, P., Carpenter, J., Chang-claude, J., Martin, N. G., Montgomery, G. W., Kristensen, V., Anton-Culver, H., Goodfellow, P., Tapper, W. J., Rafiq, S., Gerty, S. M., Durcan, L., Konstantopoulou, I., Fostira, F., Vratimos, A., & 88 othersApostolou, P., Konstanta, I., Kotoula, V., Lakis, S., Dimopoulos, M. A., Skarlos, D., Pectasides, D., Fountzilas, G., Beckmann, M. W., Hein, A., Ruebner, M., Ekici, A. B., Hartmann, A., Schulz-wendtland, R., Renner, S. P., Janni, W., Rack, B., Scholz, C., Neugebauer, J., Andergassen, U., Lux, M. P., Haeberle, L., Clarke, C., Pathmanathan, N., Rudolph, A., Flesch-janys, D., Nickels, S., Olson, J. E., Ingle, J. N., Olswold, C., Slettedahl, S., Eckel-passow, J. E., Anderson, S. K., Visscher, D. W., Cafourek, V. L., Sicotte, H., Prodduturi, N., Weiderpass, E., Bernstein, L., Ziogas, A., Ivanovich, J., Giles, G. G., Baglietto, L., Southey, M., Kosma, V. M., Fischer, H. P., Reed, M. W. R., Cross, S. S., Deming-halverson, S., Shrubsole, M., Cai, Q., Shu, X. O., Daly, M., Weaver, J. E., Ross, E., Klemp, J., Sharma, P., Torres, D., Rüdiger, T., Wölfing, H., Ulmer, H. U., Försti, A., Khoury, T., Kumar, S., Pilarski, R., Shapiro, C. L., Greco, D., Heikkilä, P., Aittomäki, K., Blomqvist, C., Irwanto, A., Liu, J., Pankratz, V. S., Wang, X., Severi, G., Mannermaa, A., Easton, D., Hall, P., Brauch, H., Cox, A., Zheng, W., Godwin, A. K., Hamann, U., Ambrosone, C., Toland, A. E., Nevanlinna, H., Vachon, C. M. & Couch, F. J., Apr 2014, In: Carcinogenesis. 35, 5, p. 1012-1019 8 p.

    Research output: Contribution to journalArticlepeer-review

    103 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, Jun 1 2020, In: Nature Genetics. 52, 6, p. 572-581 10 p.

    Research output: Contribution to journalArticlepeer-review

    20 Scopus citations
  • Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

    Lindström, S., Thompson, D. J., Paterson, A. D., Li, J., Gierach, G. L., Scott, C., Stone, J., Douglas, J. A., Dos-Santos-Silva, I., Fernandez-Navarro, P., Verghase, J., Smith, P., Brown, J., Luben, R., Wareham, N. J., Loos, R. J. F., Heit, J. A., Shane Pankratz, V., Norman, A., Goode, E. L., & 25 othersCunningham, J. M., DeAndrade, M., Vierkant, R. A., Czene, K., Fasching, P. A., Baglietto, L., Southey, M. C., Giles, G. G., Shah, K. P., Chan, H. P., Helvie, M. A., Beck, A. H., Knoblauch, N. W., Hazra, A., Hunter, D. J., Kraft, P., Pollan, M., Figueroa, J. D., Couch, F. J., Hopper, J. L., Hall, P., Easton, D. F., Boyd, N. F., Vachon, C. M. & Tamimi, R. M., Oct 24 2014, In: Nature communications. 5, 5303.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    74 Scopus citations
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