Fergus J Couch

Fergus J Couch, PhD

Chair, Division of Experimental Pathology

1991 …2023

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  • Article

    ENIGMA-evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

    Spurdle, A. B., Healey, S., Devereau, A., Hogervorst, F. B. L., Monteiro, A. N. A., Nathanson, K. L., Radice, P., Stoppa-Lyonnet, D., Tavtigian, S., Wappenschmidt, B., Couch, F. J. & Goldgar, D. E., Jan 2012, In: Human mutation. 33, 1, p. 2-7 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    186 Scopus citations
  • ERBB2, TBX2, RPS6KB1, and MYC alterations in breast tissues of BRCA1 and BRCA2 mutation carriers

    Adem, C., Soderberg, C. L., Hafner, K., Reynolds, C., Slezak, J. M., Sinclair, C. S., Sellers, T. A., Schaid, D. J., Couch, F., Hartmann, L. C. & Jenkins, R. B., Sep 2004, In: Genes Chromosomes and Cancer. 41, 1, p. 1-11 11 p.

    Research output: Contribution to journalArticlepeer-review

    43 Scopus citations
  • ERβ1: Characterization, prognosis, and evaluation of treatment strategies in ERα-positive and -negative breast cancer

    Reese, J. M., Suman, V. J., Subramaniam, M., Wu, X., Negron, V., Gingery, A., Pitel, K. S., Shah, S. S., Cunliffe, H. E., McCullough, A. E., Pockaj, B. A., Couch, F. J., Olson, J. E., Reynolds, C., Lingle, W. L., Spelsberg, T. C., Goetz, M. P., Ingle, J. N. & Hawse, J. R., Oct 7 2014, In: BMC cancer. 14, 1, 749.

    Research output: Contribution to journalArticlepeer-review

    35 Scopus citations
  • Estrogen receptor beta repurposes EZH2 to suppress oncogenic NFκB/p65 signaling in triple negative breast cancer

    Aspros, K. G. M., Carter, J. M., Hoskin, T. L., Suman, V. J., Subramaniam, M., Emch, M. J., Ye, Z., Sun, Z., Sinnwell, J. P., Thompson, K. J., Tang, X., Rodman, E. P. B., Wang, X., Nelson, A. W., Chernukhin, I., Hamdan, F. H., Bruinsma, E. S., Carroll, J. S., Fernandez-Zapico, M. E., Johnsen, S. A., & 7 othersKalari, K. R., Huang, H., Leon-Ferre, R. A., Couch, F. J., Ingle, J. N., Goetz, M. P. & Hawse, J. R., Dec 2022, In: npj Breast Cancer. 8, 1, 20.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation

    KConFab investigators, Aug 15 2018, In: International Journal of Cancer. 143, 4, p. 746-757 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Evaluation and adaptation of a laboratory-based cDNA library preparation protocol for retrospective sequencing of archived microRNAs from up to 35-year-old clinical FFPE specimens

    Loudig, O., Wang, T., Ye, K., Lin, J., Wang, Y., Ramnauth, A., Liu, C., Stark, A., Chitale, D., Greenlee, R., Multerer, D., Honda, S., Daida, Y., Feigelson, H. S., Glass, A., Couch, F. J., Rohan, T. & Ben-Dov, I. Z., Mar 14 2017, In: International journal of molecular sciences. 18, 3, 627.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations
  • Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2 (CIMBA)

    Osorio, A., Milne, R. L., Pita, G., Peterlongo, P., Heikkinen, T., Simard, J., Chenevix-Trench, G., Spurdle, A. B., Beesley, J., Chen, X., Healey, S., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Lindor, N., Manoukian, S., Barile, M., Viel, A., Tizzoni, L., & 113 othersSzabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P., Rennert, G., Lejbkowicz, F., Barnett-Griness, O., Andrulis, I. L., Ozcelik, H., Weerasooriya, N., Gerdes, A. M., Thomassen, M., Cruger, D. G., Caligo, M. A., Friedman, E., Kaufman, B., Laitman, Y., Cohen, S., Kontorovich, T., Gershoni-Baruch, R., Dagan, E., Jernström, H., Askmalm, M. S., Arver, B., Malmer, B., Domchek, S. M., Nathanson, K. L., Brunet, J., Ramón Y Cajal, T., Yannoukakos, D., Hamann, U., Hogervorst, F. B. L., Verhoef, S., Garcíla, E. B. G., Wijnen, J. T., Van Den Ouweland, A., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Luccarini, C., Evans, D. G., Lalloo, F., Eeles, R., Pichert, G., Cook, J., Hodgson, S., Morrison, P. J., Douglas, F., Godwin, A. K., Sinilnikova, O. M., Barjhoux, L., Stoppa-Lyonnet, D., Moncoutier, V., Giraud, S., Cassini, C., Olivier-Faivre, L., Révillion, F., Peyrat, J. P., Muller, D., Fricker, J. P., Lynch, H. T., John, E. M., Buys, S., Daly, M., Hopper, J. L., Terry, M. B., Miron, A., Yassin, Y., Goldgar, D., Singer, C. F., Gschwantler-Kaulich, D., Pfeiler, G., Spiess, A. C., Hansen, T. V. O., Johannsson, O. T., Kirchhoff, T., Offit, K., Kosarin, K., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Allavena, A., Schmutzler, R. K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deiler, H., Fiebig, B., Varon-Mateeva, R., Schaefer, D., Froster, U. G., Caldes, T., De La Hoya, M., McGuffog, L., Antoniou, A. C., Nevanlinna, H., Radice, P. & Benítez, J., Dec 2009, In: British journal of cancer. 101, 12, p. 2048-2054 7 p.

    Research output: Contribution to journalArticlepeer-review

    12 Scopus citations
  • Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

    Maxwell, K. N., Hart, S. N., Vijai, J., Schrader, K. A., Slavin, T. P., Thomas, T., Wubbenhorst, B., Ravichandran, V., Moore, R. M., Hu, C., Guidugli, L., Wenz, B., Domchek, S. M., Robson, M. E., Szabo, C., Neuhausen, S. L., Weitzel, J. N., Offit, K., Couch, F. J. & Nathanson, K. L., May 5 2016, In: American journal of human genetics. 98, 5, p. 801-817 17 p.

    Research output: Contribution to journalArticlepeer-review

    64 Scopus citations
  • Evaluation of associations between common variation in mitotic regulatory pathways and risk of overall and high grade breast cancer

    Stevens, K. N., Wang, X., Fredericksen, Z., Pankratz, V. S., Cerhan, J., Vachon, C. M., Olson, J. E. & Couch, F. J., Sep 2011, In: Breast Cancer Research and Treatment. 129, 2, p. 617-622 6 p.

    Research output: Contribution to journalArticlepeer-review

    22 Scopus citations
  • Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

    Stevens, K. N., Wang, X., Fredericksen, Z., Pankratz, V. S., Greene, M. H., Andrulis, I. L., Thomassen, M., Caligo, M., Nathanson, K. L., Jakubowska, A., Osorio, A., Hamann, U., Godwin, A. K., Stoppa-Lyonnet, D., Southey, M., Buys, S. S., Singer, C. F., Hansen, T. V. O., Arason, A., Offit, K., & 17 othersPiedmonte, M., Montagna, M., Imyanitov, E., Tihomirova, L., Sucheston, L., Beattie, M., Neuhausen, S. L., Szabo, C. I., Simard, J., Spurdle, A. B., Healey, S., Chen, X., Rebbeck, T. R., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Couch, F. J., Nov 2012, In: Breast Cancer Research and Treatment. 136, 1, p. 295-302 8 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

    Walker, L. C., Marquart, L., Pearson, J. F., Wiggins, G. A. R., O'Mara, T. A., Parsons, M. T., Barrowdale, D., McGuffog, L., Dennis, J., Benitez, J., Slavin, T. P., Radice, P., Frost, D., Godwin, A. K., Meindl, A., Schmutzler, R. K., Isaacs, C., Peshkin, B. N., Caldes, T., Hogervorst, F. B. L., & 14 othersLazaro, C., Jakubowska, A., Montagna, M., Chen, X., Offit, K., Hulick, P. J., Andrulis, I. L., Lindblom, A., Nussbaum, R. L., Nathanson, K. L., Chenevix-Trench, G., Antoniou, A. C., Couch, F. J. & Spurdle, A. B., Apr 1 2017, In: European Journal of Human Genetics. 25, 4, p. 432-438 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Scopus citations
  • Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer

    Yadav, S., Hu, C., Hart, S. N., Boddicker, N., Polley, E. C., Na, J., Gnanaolivu, R., Lee, K. Y., Lindstrom, T., Armasu, S., Fitz-Gibbon, P., Ghosh, K., Stan, D. L., Pruthi, S., Neal, L., Sandhu, N., Rhodes, D. J., Klassen, C., Peethambaram, P. P., Haddad, T. C., & 7 othersOlson, J. E., Hoskin, T. L., Goetz, M. P., Domchek, S. M., Boughey, J. C., Ruddy, K. J. & Couch, F. J., May 1 2020, In: Journal of Clinical Oncology. 38, 13, p. 1409-1418 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

    Thompson, D., Szabo, C. I., Mangion, J., Oldenburg, R. A., Odefrey, F., Seal, S., Barfoot, R., Kroeze-Jansema, K., Teare, D., Rahman, N., Renard, H., Mann, G., Hopper, J. L., Buys, S. S., Andrulis, I. L., Senie, R., Daly, M. B., West, D., Ostrander, E. A., Offit, K., & 28 othersPeretz, T., Osorio, A., Benitez, J., Nathanson, K. L., Sinilnikova, O. M., Olàh, E., Bignon, Y. J., Ruiz, P., Badzioch, M. D., Vasen, H. F. A., Futreal, A. P., Phelan, C. M., Narod, S. A., Lynch, H. T., Ponder, B. A. J., Eeles, R. A., Meijers-Heijboer, H., Stoppa-Lyonnet, D., Couch, F. J., Eccles, D. M., Evans, D. G., Chang-Claude, J., Lenoir, G., Weber, B. L., Devilee, P., Easton, D. F., Goldgar, D. E. & Stratton, M. R., Jan 22 2002, In: Proceedings of the National Academy of Sciences of the United States of America. 99, 2, p. 827-831 5 p.

    Research output: Contribution to journalArticlepeer-review

    73 Scopus citations
  • Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

    Kuchenbaecker, K. B., McGuffog, L., Barrowdale, D., Lee, A., Soucy, P., Dennis, J., Domchek, S. M., Robson, M., Spurdle, A. B., Ramus, S. J., Mavaddat, N., Terry, M. B., Neuhausen, S. L., Schmutzler, R. K., Simard, J., Pharoah, P. D. P., Offit, K., Couch, F. J., Chenevix-Trench, G., Easton, D. F., & 155 othersAntoniou, A. C., Healey, S., Lush, M., Hamann, U., Southey, M., John, E. M., Chung, W. K., Daly, M. B., Buys, S. S., Goldgar, D. E., Dorfling, C. M., van Rensburg, E. J., Ding, Y. C., Ejlertsen, B., Gerdes, A. M., Hansen, T. V. O., Slager, S., Hallberg, E., Benitez, J., Osorio, A., Cohen, N., Lawler, W., Weitzel, J. N., Peterlongo, P., Pensotti, V., Dolcetti, R., Barile, M., Bonanni, B., Azzollini, J., Manoukian, S., Peissel, B., Radice, P., Savarese, A., Papi, L., Giannini, G., Fostira, F., Konstantopoulou, I., Adlard, J., Brewer, C., Cook, J., Davidson, R., Eccles, D., Eeles, R., Ellis, S., EMBRACE, Frost, D., Hodgson, S., Izatt, L., Lalloo, F., Ong, K. R., Godwin, A. K., Arnold, N., Dworniczak, B., Engel, C., Gehrig, A., Hahnen, E., Hauke, J., Kast, K., Meindl, A., Niederacher, D., Varon-Mateeva, R., Wang-Gohrke, S., Wappenschmidt, B., Barjhoux, L., Collonge-Rame, M. A., Elan, C., GEMO Study Collaborators, S. C., Golmard, L., Barouk-Simonet, E., Lesueur, F., Mazoyer, S., Sokolowska, J., StoppaLyonnet, D., Isaacs, C., Claes, K. B. M., Poppe, B., de la Hoya, M., Garcia-Barberan, V., Aittomäki, K., Nevanlinna, H., Ausems, M. G. E. M., de Lange, J. L., Gomez Garcia, E. B., HEBON, Hogervorst, F. B. L., Kets, C. M., Meijers-Heijboer, H. E. J., Oosterwijk, J. C., Rookus, M. A., van Asperen, C. J., van den Ouweland, A. M. W., van Doorn, H. C., van Os, T. A. M., Kwong, A., Olah, E., Diez, O., Brunet, J., Lazaro, C., Teulé, A., Gronwald, J., Jakubowska, A., Kaczmarek, K., Lubinski, J., Sukiennicki, G., Barkardottir, R. B., Chiquette, J., Agata, S., Montagna, M., Teixeira, M. R., Investigators, KC. F., Park, S. K., Olswold, C., Tischkowitz, M., Foretova, L., Gaddam, P., Vijai, J., Pfeiler, G., Rappaport-Fuerhauser, C., Singer, C. F., Tea, M. K. M., Greene, M. H., Loud, J. T., Rennert, G., Imyanitov, E. N., Hulick, P. J., Hays, J. L., Piedmonte, M., Rodriguez, G. C., Martyn, J., Glendon, G., Mulligan, A. M., Andrulis, I. L., Toland, A. E., Jensen, U. B., Kruse, T. A., Pedersen, I. S., Thomassen, M., Caligo, M. A., Teo, S. H., Berger, R., Friedman, E., Laitman, Y., Arver, B., Borg, A., Ehrencrona, H., Rantala, J., Olopade, O. I., Ganz, P. A., Nussbaum, R. L., Bradbury, A. R., Nathanson, K. L., Arun, B. K., James, P., Karlan, B. Y. & Lester, J., Jul 1 2017, In: Journal of the National Cancer Institute. 109, 7

    Research output: Contribution to journalArticlepeer-review

    Open Access
    107 Scopus citations
  • Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

    Osorio, A., Milne, R. L., Alonso, R., Pita, G., Peterlongo, P., Teulé, A., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Lasa, A., Konstantopoulou, I., Hogervorst, F. B., Verhoef, S., Van Dooren, M. F., Jager, A., Ausems, M. G. E. M., Aalfs, C. M., Van Asperen, C. J., Vreeswijk, M., Waisfisz, Q., & 52 othersVan Roozendaal, C. E., Ligtenberg, M. J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Curzon, B., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Adlard, J., Eccles, D., Ong, K. R., Douglas, F., Downing, S., Brewer, C., Walker, L., Nevanlinna, H., Aittomäki, K., Couch, F. J., Fredericksen, Z., Lindor, N. M., Godwin, A., Isaacs, C., Caligo, M. A., Loman, N., Jernström, H., Barbany-Bustinza, G., Liljegren, A., Ehrencrona, H., Stenmark-Askmalm, M., Feliubadaló, L., Manoukian, S., Peissel, B., Zaffaroni, D., Bonanni, B., Fortuzzi, S., Johannsson, O. T., Chenevix-Trench, G., Chen, X. C., Beesley, J., Spurdle, A. B., Sinilnikova, O. M., Healey, S., McGuffog, L., Antoniou, A. C., Brunet, J., Radice, P. & Benítez, J., Apr 12 2011, In: British journal of cancer. 104, 8, p. 1356-1361 6 p.

    Research output: Contribution to journalArticlepeer-review

    5 Scopus citations
  • Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

    Stevens, K. N., Garcia-Closas, M., Fredericksen, Z., Kosel, M., Pankratz, V. S., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Van T Veer, L. J., Tollenaar, R. A. E. M., Fasching, P. A., Beckmann, M. W., Hein, A., Ekici, A. B., Johnson, N., Peto, J., Dos Santos Silva, I., & 81 othersGibson, L., Sawyer, E., Tomlinson, I., Kerin, M. J., Chanock, S., Lissowska, J., Hunter, D. J., Hoover, R. N., Thomas, G. D., Milne, R. L., Pérez, J. A., González-Neira, A., Benítez, J., Burwinkel, B., Meindl, A., Schmutzler, R. K., Bartrar, C. R., Hamann, U., Ko, Y. D., Brüning, T., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N., Zalutsky, J. V., Rogov, Y. I., Antonenkova, N., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J., Chenevix-Trench, G., Chen, X., Peterlongo, P., Bonanni, B., Bernard, L., Manoukian, S., Wang, X., Cerhan, J., Vachon, C. M., Olson, J., Giles, G. G., Baglietto, L., McLean, C. A., Severi, G., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I., Knight, J. A., Glendon, G., Mulligan, A. M., Cox, A., Brock, I. W., Elliott, G., Cross, S. S., Pharoah, P. P., Dunning, A. M., Pooley, K. A., Humphreys, M. K., Wang, J., Kang, D., Yoo, K. Y., Noh, D. Y., Sangrajrang, S., Gabrieau, V., Brennan, P., McKay, J., Anton-Culver, H., Ziogas, A., Couch, F. J. & Easton, D. F., Dec 6 2011, In: British journal of cancer. 105, 12, p. 1934-1939 6 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

    Walker, L. C., Fredericksen, Z. S., Wang, X., Tarrell, R., Pankratz, V. S., Lindor, N. M., Beesley, J., Healey, S., Chen, X., Stoppa-Lyonnet, D., Tirapo, C., Giraud, S., Mazoyer, S., Muller, D., Fricker, J. P., Delnatte, C. D., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Schönbuchner, I., & 53 othersDeissler, H., Meindl, A., Hogervorst, F. B., Verheus, M., Hooning, M. J., van den Ouweland, A. M. W., Nelen, M. R., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gerrits, M. M., Waisfisz, Q., Szabo, C. I., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Harrington, P., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Eccles, D., Ong, K. R., Cook, J., Rebbeck, T., Nathanson, K. L., Domchek, S. M., Singer, C. F., Gschwantler-Kaulich, D., Dressler, A. C., Pfeiler, G., Godwin, A. K., Heikkinen, T., Nevanlinna, H., Agnarsson, B. A., Caligo, M. A., Olsson, H., Kristoffersson, U., Liljegren, A., Arver, B., Karlsson, P., Melin, B., Sinilnikova, O. M., McGuffog, L., Antoniou, A. C., Chenevix-Trench, G., Spurdle, A. B. & Couch, F. J., Nov 29 2010, In: Breast Cancer Research. 12, 6, R102.

    Research output: Contribution to journalArticlepeer-review

    21 Scopus citations
  • Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

    Nickels, S., Truong, T., Hein, R., Stevens, K., Buck, K., Behrens, S., Eilber, U., Schmidt, M., Häberle, L., Vrieling, A., Gaudet, M., Figueroa, J., Schoof, N., Spurdle, A. B., Rudolph, A., Fasching, P. A., Hopper, J. L., Makalic, E., Schmidt, D. F., Southey, M. C., & 91 othersBeckmann, M. W., Ekici, A. B., Fletcher, O., Gibson, L., dos Santos Silva, I., Peto, J., Humphreys, M. K., Wang, J., Cordina-Duverger, E., Menegaux, F., Nordestgaard, B. G., Bojesen, S. E., Lanng, C., Anton-Culver, H., Ziogas, A., Bernstein, L., Clarke, C. A., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Brauch, H., Brüning, T., Harth, V., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Lambrechts, D., Smeets, D., Neven, P., Paridaens, R., Flesch-Janys, D., Obi, N., Wang-Gohrke, S., Couch, F. J., Olson, J. E., Vachon, C. M., Giles, G. G., Severi, G., Baglietto, L., Offit, K., John, E. M., Miron, A., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Chanock, S. J., Lissowska, J., Liu, J., Cox, A., Cramp, H., Connley, D., Balasubramanian, S., Dunning, A. M., Shah, M., Trentham-Dietz, A., Newcomb, P., Titus, L., Egan, K., Cahoon, E. K., Rajaraman, P., Sigurdson, A. J., Doody, M. M., Guénel, P., Pharoah, P. D. P., Schmidt, M. K., Hall, P., Easton, D. F., Garcia-Closas, M., Milne, R. L., Chang-Claude, J., Christina Justenhoven, H. B., Ko, Y. D., Baisch, C., Fischer, H. P., Hamann, U., Pesch, B., Rabstein, S., Lotz, A., Myöhänen, E., Kemiläinen, H., Thorne, H., Niedermayr, E., Bowtell, D., Chenevix-Trench, G., deFazio, A., Gertig, D., Green, A. & Webb, P., 2013, In: PLoS genetics. 9, 3, e1003284.

    Research output: Contribution to journalArticlepeer-review

    110 Scopus citations
  • Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

    Ghoussaini, M., Edwards, S. L., Michailidou, K., Nord, S., Cowper-Sal-lari, R., Desai, K., Kar, S., Hillman, K. M., Kaufmann, S., Glubb, D. M., Beesley, J., Dennis, J., Bolla, M. K., Wang, Q., Dicks, E., Guo, Q., Schmidt, M. K., Shah, M., Luben, R., Brown, J., & 193 othersCzene, K., Darabi, H., Eriksson, M., Klevebring, D., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Lambrechts, D., Thienpont, B., Neven, P., Wildiers, H., Broeks, A., Vant Veer, L. J., Rutgers, E. J. T., Couch, F. J., Olson, J. E., Hallberg, E., Vachon, C., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Peto, J., Dos-Santos-Silva, I., Gibson, L., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Hall, P., Li, J., Liu, J., Humphreys, K., Kang, D., Choi, J. Y., Park, S. K., Noh, D. Y., Matsuo, K., Ito, H., Iwata, H., Yatabe, Y., Guénel, P., Truong, T., Menegaux, F., Sanchez, M., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., Benitez, J., Zamora, M. P., Perez, J. I. A., Menéndez, P., Shu, X. O., Lu, W., Gao, Y. T., Cai, Q., Cox, A., Cross, S. S., Reed, M. W. R., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Haiman, C. A., Henderson, B. E., Schumacher, F., Marchand, L. L., Lindblom, A., Margolin, S., Teo, S. H., Yip, C. H., Lee, D. S. C., Wong, T. Y., Hooning, M. J., Martens, J. W. M., Collée, J. M., Van Deurzen, C. H. M., Hopper, J. L., Southey, M. C., Tsimiklis, H., Kapuscinski, M. K., Shen, C. Y., Wu, P. E., Yu, J. C., Chen, S. T., Alnæs, G. G., Borresen-Dale, A. L., Giles, G. G., Milne, R. L., McLean, C., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Hartman, M., Miao, H., Buhari, S. A. B. S., Teo, Y. Y., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M. J., García-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Simard, J., Goldberg, M. S., Labrèche, F., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Brauch, H., Brüning, T., Koto, Y. D., Radice, P., Peterlongo, P., Bonanni, B., Volorio, S., Dörk, T., Bogdanova, N. V., Helbig, S., 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-Bieniek, K., Durda, K., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Hamann, U., Torres, D., Zheng, W., Long, J., Anton-Culver, H., Neuhausen, S. L., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C. S., González-Neira, A., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Tessier, D. C., Vincent, D., Bacot, F., De Santiago, I., Carroll, J., Caldas, C., Brown, M. A., Lupien, M., Kristensen, V. N., Pharoah, P. D. P., Chenevix-Trench, G., French, J. D., Easton, D. F., Dunning, A. M., Webb, P. & De Fazio, A., 2014, In: Nature communications. 4, 4999.

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    74 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 othersMuir, 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., Oct 6 2016, In: American journal of human genetics. 99, 4, p. 903-911 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    31 Scopus citations
  • Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

    Kiiski, J. I., Pelttari, L. M., Khan, S., Freysteinsdottir, E. S., Reynisdottir, I., Hart, S. N., Shimelis, H., Vilske, S., Kallioniemi, A., Schleutker, J., Leminen, A., Bützow, R., Blomqvist, C., Barkardottir, R. B., Couch, F. J., Aittomäki, K. & Nevanlinna, H., Oct 21 2014, In: Proceedings of the National Academy of Sciences of the United States of America. 111, 42, p. 15172-15177 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    111 Scopus citations
  • Exploring the link between MORF4L1 and risk of breast cancer

    Martrat, G., Maxwell, C. A., Tominaga, E., Porta-de-la-Riva, M., Bonifaci, N., Gómez-Baldó, L., Bogliolo, M., Lázaro, C., Blanco, I., Brunet, J., Aguilar, H., Fernández-Rodríguez, J., Seal, S., Renwick, A., Rahman, N., Kühl, J., Neveling, K., Schindler, D., Ramírez, M. J., Castellà, M., & 108 othersHernández, G., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Ong, K. R., Cook, J., Douglas, F., Hodgson, S., Brewer, C., Morrison, P. J., Porteous, M., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Pasini, B., Ottini, L., Putignano, A. L., Savarese, A., Bernard, L., Radice, P., Healey, S., Spurdle, A., Chen, X., Beesley, J., Rookus, M. A., Verhoef, S., Tilanus-Linthorst, M. A., Vreeswijk, M. P., Asperen, C. J., Bodmer, D., Ausems, M. G. E. M., van Os, T. A., Blok, M. J., Meijers-Heijboer, H. E. J., Hogervorst, F. B. L., Goldgar, D. E., Buys, S., John, E. M., Miron, A., Southey, M., Daly, M. B., Harbst, K., Borg, Å., Rantala, J., Barbany-Bustinza, G., Ehrencrona, H., Stenmark-Askmalm, M., Kaufman, B., Laitman, Y., Milgrom, R., Friedman, E., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Johannsson, O. T., Couch, F. J., Wang, X., Fredericksen, Z., Cuadras, D., Moreno, V., Pientka, F. K., Depping, R., Caldés, T., Osorio, A., Benítez, J., Bueren, J., Heikkinen, T., Nevanlinna, H., Hamann, U., Torres, D., Caligo, M. A., Godwin, A. K., Imyanitov, E. N., Janavicius, R., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Verny-Pierre, C., Castera, L., De Pauw, A., Bignon, Y. J., Uhrhammer, N., Peyrat, J. P., Vennin, P., Ferrer, S. F., Collonge-Rame, M. A., Mortemousque, I., McGuffog, L., Chenevix-Trench, G., Pereira-Smith, O. M., Antoniou, A. C., Cerón, J., Tominaga, K., Surrallés, J. & Pujana, M. A., Apr 5 2011, In: Breast Cancer Research. 13, 2, R40.

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    14 Scopus citations
  • Expression analysis of breast cancer progression

    Couch, F., Wang, Y., Steinmann, K., Xu, Y., Mertens, M., Ingle, J., Lillie, J. & Roche, P., Apr 2001, In: Nature Genetics. 27, 4S, p. 49 1 p.

    Research output: Contribution to journalArticlepeer-review

  • Factors Associated With Physical Activity Levels in Patients With Breast Cancer

    Marell, P. S., Vierkant, R. A., Olson, J. E., Herrmann, J., Larson, N., LeBrasseur, N. K., D'Andre, S. D., Cheville, A. L., Barksdale, T., Loprinzi, C. L., Couch, F. & Ruddy, K. J., Oct 1 2022, In: The oncologist. 27, 10, p. e811-e814

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Familial breast cancer. Approaching the isolation of a susceptibility gene

    Weber, B. L., Abel, K. J., Brody, L. C., Flejter, W. L., Chandrasekharappa, S. C., Couch, F. J., Merajver, S. D. & Collins, F. S., Aug 1 1994, In: Cancer. 74, 3 S, p. 1013-1020 8 p.

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    10 Scopus citations
  • FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

    GENESIS, kConFab 25 & SWE-BRCA, Apr 9 2015, In: Human molecular genetics. 24, 18, p. 5345-5355 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    56 Scopus citations
  • Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2- and RAD51-associated homologous recombination in response to DNA damage

    Ohashi, A., Zdzienicka, M. Z., Chen, J. & Couch, F. J., Apr 15 2005, In: Journal of Biological Chemistry. 280, 15, p. 14877-14883 7 p.

    Research output: Contribution to journalArticlepeer-review

    68 Scopus citations
  • FGF receptor genes and breast cancer susceptibility: Results from the Breast Cancer Association Consortium

    Agarwal, D., Pineda, S., Michailidou, K., Herranz, J., Pita, G., Moreno, L. T., Alonso, M. R., Dennis, J., Wang, Q., Bolla, M. K., Meyer, K. B., Menéndez-Rodríguez, P., Hardisson, D., Mendiola, M., González-Neira, A., Lindblom, A., Margolin, S., Swerdlow, A., Ashworth, A., Orr, N., & 158 othersJones, M., Matsuo, K., Ito, H., Iwata, H., Kondo, N., Hartman, M., Hui, M., Lim, W. Y., Iau, P. T. C., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Kang, D., Choi, J. Y., Park, S., Noh, D. Y., Hopper, J. L., Schmidt, D. F., Makalic, E., Southey, M. C., Teo, S. H., Yip, C. H., Sivanandan, K., Tay, W. T., Brauch, H., Brüning, T., Hamann, U., Dunning, A. M., Shah, M., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Schmidt, M. K., Broeks, A., Rosenberg, E. H., van't Veer, L. J., Fasching, P. A., Renner, S. P., Ekici, A. B., Beckmann, M. W., Shen, C. Y., Hsiung, C. N., Yu, J. C., Hou, M. F., Blot, W., Cai, Q., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., Cox, A., Brock, I. W., Reed, M. W. R., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Zheng, W., Deming-Halverson, S., Shrubsole, M. J., Long, J., Shu, X. O., Lu, W., Gao, Y. T., Zhang, B., Radice, P., Peterlongo, P., Manoukian, S., Mariette, F., Sangrajrang, S., McKay, J., Couch, F. J., Toland, A. E., Yannoukakos, D., Fletcher, O., Johnson, N., Dos Santos Silva, I., Peto, J., Marme, F., Burwinkel, B., Guénel, P., Truong, T., Sanchez, M., Mulot, C., Bojesen, S. E., Nordestgaard, B. G., Flyer, H., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Lambrechts, D., Yesilyurt, B. T., Floris, G., Leunen, K., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Wang, X., Olson, J. E., Vachon, C., Purrington, K., Giles, G. G., Severi, G., Baglietto, L., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Simard, J., Dumont, M., Goldberg, M. S., Labrèche, F., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Devilee, P., E M Tollenaar, R. A., Seynaeve, C., García-Closas, M., Chanock, S. J., Lissowska, J., Figueroa, J. D., Czene, K., Eriksson, M., Humphreys, K., Darabi, H., Hooning, M. J., Kriege, M., Collée, J. M., Tilanus-Linthorst, M., Li, J., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Bogdanova, N., Dörk, T., Hall, P., Chenevix-Trench, G., Easton, D. F., P Pharoah, P. D., Arias-Perez, J. I., Zamora, P., Benítez, J. & Milne, R. L., Feb 18 2014, In: British journal of cancer. 110, 4, p. 1088-1100 13 p.

    Research output: Contribution to journalArticlepeer-review

    18 Scopus citations
  • Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma

    Graham, R. P., Barr Fritcher, E. G., Pestova, E., Schulz, J., Sitailo, L. A., Vasmatzis, G., Murphy, S. J., McWilliams, R. R., Hart, S. N., Halling, K. C., Roberts, L. R., Gores, G. J., Couch, F. J., Zhang, L., Borad, M. J. & Kipp, B. R., Aug 2014, In: Human Pathology. 45, 8, p. 1630-1638 9 p.

    Research output: Contribution to journalArticlepeer-review

    140 Scopus citations
  • Fifty-year follow-up of cancer incidence in a historical cohort of Minnesota Breast Cancer Families

    Sellers, T. A., King, R. A., Cerhan, J. R., Chen, P. L., Grabrick, D. M., Kushi, L. H., Oetting, W. S., Vierkant, R. A., Vachon, C. M., Couch, F. J., Therneau, T. M., Olson, J. E., Pankratz, V. S., Hartmann, L. C. & Anderson, V. E., Dec 1999, In: Cancer Epidemiology Biomarkers and Prevention. 8, 12, p. 1051-1057 7 p.

    Research output: Contribution to journalArticlepeer-review

    25 Scopus citations
  • Financial hardship in breast cancer survivors: a prospective analysis of change in financial concerns over time

    Storandt, M. H., Durani, U., Stan, D., Larson, N., Loprinzi, C., Couch, F., Olson, J. E., Khera, N. & Ruddy, K. J., Jan 2023, In: Supportive Care in Cancer. 31, 1, 62.

    Research output: Contribution to journalArticlepeer-review

  • Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

    Australian Ovarian Cancer Study Group & The GENICA Network, May 15 2015, In: Human molecular genetics. 24, 10, p. 2966-2984 19 p.

    Research output: Contribution to journalArticlepeer-review

    29 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, Jan 1 2020, In: Nature Genetics. 52, 1, p. 56-73 18 p.

    Research output: Contribution to journalArticlepeer-review

    23 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 othersTomlinson, 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 journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

    Australian Ovarian Cancer Study (AOCS), RENDOCAS, The Australian National Endometrial Cancer Study Group (ANECS), CHIBCHAConsortium, National Study of Endometrial Cancer Genetics Group (NSECG) & The GENICA Network, Mar 1 2015, In: Human molecular genetics. 24, 5, p. 1478-1492 15 p.

    Research output: Contribution to journalArticlepeer-review

    40 Scopus citations
  • Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    KConFab investigators, Jul 2016, In: PloS one. 11, 7 July, e0158801.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

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

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 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 othersBojesen, 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., Sep 7 2016, In: Scientific reports. 6, 32512.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Scopus citations
  • Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

    Guo, X., Long, J., Zeng, C., Michailidou, K., Ghoussaini, M., Bolla, M. K., Wang, Q., Milne, R. L., Shu, X. O., Cai, Q., Beesley, J., Kar, S. P., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Beeghly-Fadiel, A., Benitez, J., Blot, W., Bogdanova, N., & 259 othersBojesen, S. E., Brauch, H., Brenner, H., Brinton, L., Broekss, A., Bruning, T., Burwinkel, B., Cai, H., Canisius, S., Chang-Claude, J., Choi, J. Y., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Darabi, H., Devilee, P., Droit, A., Dork, T., Fasching, P. A., Fletcher, O., Flyger, H., Fostira, F., Gaborieau, V., García-Closas, M., Giles, G. G., Grip, M., Guenel, P., Haiman, C. A., Hamann, U., Hartman, M., Hollestelle, A., Hopper, J. L., Hsiung, C. N., Ito, H., Jakubowska, A., Johnson, N., Kabisch, M., Kang, D., Khan, S., Knight, J. A., Kosma, V. M., Lambrechts, D., Le Marchand, L., Li, J., Lindblom, A., Lophatananon, A., Lubinski, J., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Matsuo, K., McLean, C. A., Meindl, A., Muir, K., Neuhausen, S. L., Nevanlinna, H., Nord, S., Olson, J. E., Orr, N., Peterlongo, P., Putti, T. C., Rudolph, A., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Shen, C. Y., Shi, J., Shrubsole, M. J., Southey, M. C., Swerdlow, A., Teo, S. H., Thienpont, B., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I. P. M., Truong, T., Tseng, C. C., Van Den Ouweland, A., Wen, W., Winqvist, R., Wu, A., Yip, C. H., Zamora, M. P., Zheng, Y., Hall, P., Pharoah, P. D. P., Simard, J., Chenevix-Trench, G., Dunning, A. M., Easton, D. F., Zheng, W., Eeles, R. A., Al Olama, A. A., Kote-Jarai, Z., Benlloch, S., Antoniou, A., McGuffog, L., Offit, K., Lee, A., Dicks, E., Luccarini, C., Tessier, D. C., Bacot, F., Vincent, D., La Boissière, S., Robidoux, F., Nielsen, S. F., Cunningham, J. M., Windebank, S. A., Hilker, C. A., Meyer, J., Angelakos, M., Maskiell, J., Van Der Schoot, E., Rutgers, E., Verhoef, S., Hogervorst, F., Boonyawongviroj, P., Siriwanarungsan, P., Schrauder, M., Rübner, M., Oeser, S., Landrith, S., Williams, E., Ryder-Mills, E., Sargus, K., McInerney, N., Colleran, G., Rowan, A., Jones, A., Sohn, C., Schneeweiß, A., Bugert, P., Álvarez, N., Bernstein, L., Lacey, J., Wang, S., Ma, H., Lu, Y., Clague De Hart, J., Deapen, D., Pinder, R., Lee, E., Schumacher, F., Horn-Ross, P., Reynolds, P., Nelson, D., Park, H., Ziegler, H., Wolf, S., Hermann, V., Lo, W. Y., Justenhoven, C., Ko, Y. D., Baisch, C., Fischer, H. P., Pesch, B., Rabstein, S., Lotz, A., Harth, V., Heikkinen, T., Erkkilä, I., Aaltonen, K., Von Smitten, K., Antonenkova, N., Hillemanns, P., Christiansen, H., Myöhänen, E., Kemiläinen, H., Thorne, H., Niedermayr, E., Bowtell, D., De Fazio, A., Gertig, D., Green, A., Webb, P., Green, A., Parsons, P., Hayward, N., Whiteman, D., Fung, A., Yashiki, J., Peuteman, G., Smeets, D., Van Brussel, T., Corthouts, K., Obi, N., Heinz, J., Behrens, S., Eilber, U., Celik, M., Olchers, T., Peissel, B., Scuvera, G., Zaffaroni, D., Bonanni, B., Feroce, I., Maniscalco, A., Rossi, A., Bernard, L., Tranchant, M., Valois, M. F., Turgeon, A., Heguy, L., Yee, P. S., Kang, P., Nee, K. I., Mariapun, S., Sook-Yee, Y., Lee, D., Ching, T. Y., Taib, N. A. M., Otsukka, M., Mononen, K., Selander, T., Weerasooriya, N., Krol-Warmerdam, E., Molenaar, J., Blom, J., Szeszenia-Dabrowska, N., Peplonska, B., Zatonski, W., Chao, P., Stagner, M., Bos, P., Crepin, E., Nieuwlaat, A., Heemskerk, A., Higham, S., Cramp, H., Connley, D., Balasubramanian, S., Brock, I., Kerin, M., Miller, N., Kerbrat, P., Arveux, P., Le Scodan, R., Raoul, Y., Laurent-Puig, P., Mulot, C., Stegmaier, C., Butterbach, K., Karstens, J. H., Flesch-Janys, D., Seibold, P., Vrieling, A., Nickels, S., Radice, P., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Conroy, D., Baynes, C., Chua, K. & Pilarski, R., Nov 1 2015, In: Cancer Epidemiology Biomarkers and Prevention. 24, 11, p. 1680-1691 12 p.

    Research output: Contribution to journalArticlepeer-review

    15 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 othersVan 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., Jan 8 2015, In: American journal of human genetics. 96, 1, p. 5-20 16 p.

    Research output: Contribution to journalArticlepeer-review

    50 Scopus citations
  • Fine-scale mapping of the FGFR2 breast cancer risk locus: Putative functional variants differentially bind FOXA1 and E2F1

    Meyer, K. B., O'Reilly, M., Michailidou, K., Carlebur, S., Edwards, S. L., French, J. D., Prathalingham, R., Dennis, J., Bolla, M. K., Wang, Q., De Santiago, I., Hopper, J. L., Tsimiklis, H., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Van 't Veer, L. J., Hogervorst, F. B., Muir, K., & 180 othersLophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P. A., Lux, M. P., Ekici, A. B., Beckmann, M. W., Peto, J., Dos Santos Silva, I., Fletcher, O., Johnson, N., 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, J. I., Benitez, J., Neuhausen, S., Anton-Culver, H., Ziogas, A., Dur, C. C., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Meindl, A., Schmutzler, R. K., Engel, C., Ditsch, N., Brauch, H., Brüning, T., Ko, Y. D., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Matsuo, K., Ito, H., Iwata, H., Yatabe, Y., Dörk, T., Helbig, S., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Chenevix-Trench, G., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., Lambrechts, D., Thienpont, B., Christiaens, M. R., Smeets, A., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Bonanni, B., Bernard, L., Couch, F. J., Olson, J. E., Wang, X., Purrington, K., Giles, G. G., Severi, G., Baglietto, 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., Phuah, S. Y., Kristensen, V., Grenaker Alnæs, G., Børresen-Dale, A. L., Zheng, W., Deming-Halverson, S., 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. M., García-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Czene, K., Darabi, H., Eriksson, K., Hooning, M. J., Martens, J. W. M., Van Den Ouweland, A. M. W., Van Deurzen, C. H. M., Hall, P., Li, J., Liu, J., Humphreys, K., Shu, X. O., Lu, W., Gao, Y. T., Cai, H., Cox, A., Reed, M. W. R., Blot, W., Signorello, L. B., Cai, Q., Pharoah, P. D. P., Ghoussaini, M., Harrington, P., Tyrer, J., Kang, D., Choi, J. Y., Park, S. K., Noh, D. Y., Hartman, M., Hui, M., Lim, W. Y., Buhari, S. A., Hamann, U., Försti, A., Rüdiger, T., Ulmer, H. U., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Vachon, C., Slager, S., Fostira, F., Pilarski, R., Shen, C. Y., Hsiung, C. N., Wu, P. E., Hou, M. F., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M. J., Ponder, B. A. J., Dunning, A. M. & Easton, D. F., Dec 5 2013, In: American journal of human genetics. 93, 6, p. 1046-1060 15 p.

    Research output: Contribution to journalArticlepeer-review

    69 Scopus citations
  • Five endometrial cancer risk loci identified through genome-wide association analysis

    Cheng, T. H. T., Thompson, D. J., O'Mara, T. A., Painter, J. N., Glubb, D. M., Flach, S., Lewis, A., French, J. D., Freeman-Mills, L., Church, D., Gorman, M., Martin, L., Hodgson, S., MWebb, P., Attia, J., Holliday, E. G., McEvoy, M., Scott, R. J., KHenders, A., Martin, N. G., & 67 othersMontgomery, G. W., Nyholt, D. R., Ahmed, S., Healey, C. S., Shah, M., Dennis, J., Fasching, P. A., Beckmann, M. W., Hein, A., Ekici, A. B., Hall, P., Czene, K., Darabi, H., Li, J., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I., Amant, F., Schrauwen, S., Zhao, H., Lambrechts, D., Depreeuw, J., 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., Otton, G., Proietto, T., Liu, T., Mints, M., Tham, E., Li, M. J., Yip, S. H., Wang, J., KBolla, M., Michailidou, K., Wang, Q., Tyrer, J. P., Dunlop, M., Houlston, R., Palles, C., 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., MCunningham, J., Pharoah, P. D. P., Dunning, A. M., Edwards, S. L., Easton, D. F., Tomlinson, I. & Spurdle, A. B., Jun 1 2016, In: Nature Genetics. 48, 6, p. 667-674 8 p.

    Research output: Contribution to journalArticlepeer-review

    42 Scopus citations
  • Five polymorphisms and breast cancer risk: Results from the breast cancer association consortium

    Gaudet, M. M., Milne, R. L., Cox, A., Camp, N. J., Goode, E. L., Humphreys, M. K., Dunning, A. M., Morrison, J., Giles, G. G., Severi, G., Baglietto, L., English, D. R., Couch, F. J., Olson, J. E., Wang, X., Chang-Claude, J., Flesch-Janys, D., Abbas, S., Salazar, R., Mannermaa, A., & 95 othersKataja, V., Kosma, V. M., Lindblom, A., Margolin, S., Heikkinen, T., Kämpjärvi, K., Aaltonen, K., Nevanlinna, H., Bogdanova, N., Coinac, I., Schürmann, P., Dörk, T., Bartram, C. R., Schmutzler, R. K., Tchatchou, S., Burwinkel, B., Brauch, H., Torres, D., Hamann, U., Justenhoven, C., Ribas, G., Arias, J. I., Benitez, J., Bojesen, S. E., Nordestgaard, B. G., Flyger, H. L., Peto, J., Fletcher, O., Johnson, N., Silva, I. D. S., Fasching, P. A., Beckmann, M. W., Strick, R., Ekici, A. B., Broeks, A., Schmidt, M. K., Van Leeuwen, F. E., Van't Veer, L. J., Southey, M. C., Hopper, J. L., Apicella, C., Haiman, C. A., Henderson, B. E., Le Marchand, L., Kolonel, L. N., Kristensen, V., Alnæs, G. G., Hunter, D. J., Kraft, P., Cox, D. G., Hankinson, S. E., Seynaeve, C., Vreeswijk, M. P. G., Tollenaar, R. A. E. M., Devilee, P., Chanock, S., Lissowska, J., Brinton, L., Peplonska, B., Czene, K., Hall, P., Li, Y., Liu, J., Balasubramanian, S., Rafii, S., Reed, M. W. R., Pooley, K. A., Conroy, D., Baynes, C., Kang, D., Yoo, K. Y., Noh, D. Y., Ahn, S. H., Shen, C. Y., Wang, H. C., Yu, J. C., Wu, P. E., Anton-Culver, H., Ziogoas, A., Egan, K., Newcomb, P., Titus-Ernstoff, L., Dietz, A. T., Sigurdson, A. J., Alexander, B. H., Bhatti, P., Allen-Brady, K., Cannon-Albright, L. A., Wong, J., Chenevix-Trench, G., Spurdle, A. B., Beesley, J., Pharoah, P. D. P., Easton, D. F. & Garcia-Closas, M., May 2009, In: Cancer Epidemiology Biomarkers and Prevention. 18, 5, p. 1610-1616 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    53 Scopus citations
  • Folate receptor alpha expression associates with improved disease-free survival in triple negative breast cancer patients

    Norton, N., Youssef, B., Hillman, D. W., Nassar, A., Geiger, X. J., Necela, B. M., Liu, H., Ruddy, K. J., Polley, M. Y. C., Ingle, J. N., Couch, F. J., Perez, E. A., Liu, M. C., Carter, J. M., Leon-Ferre, R. A., Boughey, J. C., Somers, E. B., Kalari, K. R., Visscher, D. W., Goetz, M. P., & 1 othersKnutson, K. L., Dec 1 2020, In: npj Breast Cancer. 6, 1, 4.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations
  • Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls

    Lilyquist, J., LaDuca, H., Polley, E., Davis, B. T., Shimelis, H., Hu, C., Hart, S. N., Dolinsky, J. S., Couch, F. J. & Goldgar, D. E., Nov 2017, In: Gynecologic oncology. 147, 2, p. 375-380 6 p.

    Research output: Contribution to journalArticlepeer-review

    52 Scopus citations
  • From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals

    Augusto, B. M., Lake, P., Scherr, C. L., Couch, F. J., Lindor, N. M. & Vadaparampil, S. T., Jul 1 2018, In: Journal of Community Genetics. 9, 3, p. 209-215 7 p.

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

    Boonen, R. A. C. M., Rodrigue, A., Stoepker, C., Wiegant, W. W., Vroling, B., Sharma, M., Rother, M. B., Celosse, N., Vreeswijk, M. P. G., Couch, F., Simard, J., Devilee, P., Masson, J. Y. & van Attikum, H., Dec 1 2019, In: Nature communications. 10, 1, 5296.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    15 Scopus citations
  • Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

    NBCS Collaborators, KConFab investigators & ABCTB Investigators, Jul 2021, In: American journal of human genetics. 108, 7, p. 1190-1203 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Functional assays for classification of BRCA2 variants of uncertain significance

    Farrugia, D. J., Agarwal, M. K., Pankratz, V. S., Deffenbaugh, A. M., Pruss, D., Frye, C., Wadum, L., Johnson, K., Mentlick, J., Tavtigian, S. V., Goldgar, D. E. & Couch, F. J., May 1 2008, In: Cancer research. 68, 9, p. 3523-3531 9 p.

    Research output: Contribution to journalArticlepeer-review

    95 Scopus citations
  • Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance

    Woods, N. T., Baskin, R., Golubeva, V., Jhuraney, A., De-Gregoriis, G., Vaclova, T., Goldgar, D. E., Couch, F. J., Carvalho, M. A., Iversen, E. S. & Monteiro, A. N. A., Mar 2 2016, In: npj Genomic Medicine. 1, 16001.

    Research output: Contribution to journalArticlepeer-review

    40 Scopus citations
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