Fergus J Couch

Fergus J Couch, PhD

Chair, Division of Experimental Pathology

1991 …2023

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  • Article

    Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

    Gaudet, M. M., Kirchhoff, T., Green, T., Vijai, J., Korn, J. M., Guiducci, C., Segrè, A. V., McGee, K., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Gauthier-Villars, M., Sobol, H., Longy, M., Frenay, M., Hogervorst, F. B. L., & 96 othersRookus, M. A., Collée, J. M., Hoogerbrugge, N., van Roozendaal, K. E. P., Piedmonte, M., Rubinstein, W., Nerenstone, S., Van Le, L., Blank, S. V., Caldés, T., De la Hoya, M., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Arason, A., Johannsson, O. T., Barkardottir, R. B., Devilee, P., Olopade, O. I., Neuhausen, S. L., Wang, X., Fredericksen, Z. S., Peterlongo, P., Manoukian, S., Barile, M., Viel, A., Radice, P., Phelan, C. M., Narod, S., Rennert, G., Lejbkowicz, F., Flugelman, A., Andrulis, I. L., Glendon, G., Ozcelik, H., Toland, A. E., Montagna, M., D'Andrea, E., Friedman, E., Laitman, Y., Borg, A., Beattie, M., Ramus, S. J., Domchek, S. M., Nathanson, K. L., Rebbeck, T., Spurdle, A. B., Chen, X., Holland, H., John, E. M., Hopper, J. L., Buys, S. S., Daly, M. B., Southey, M. C., Terry, M. B., Tung, N., Hansen, T. V. O., Nielsen, F. C., Greene, M. I., Mai, P. L., Osorio, A., Durán, M., Andres, R., Benítez, J., Weitzel, J. N., Garber, J., Hamann, U., Peock, S., Cook, M., Oliver, C., Frost, D., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Walker, L., Eason, J., Barwell, J., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Engert, S., Arnold, N., Gadzicki, D., Dean, M., Gold, B., Klein, R. J., Couch, F. J., Chenevix-Trench, G., Easton, D. F., Daly, M. J., Antoniou, A. C., Altshuler, D. M. & Offit, K., Oct 2010, In: PLoS genetics. 6, 10, p. 1-12 12 p., e1001183.

    Research output: Contribution to journalArticlepeer-review

    75 Scopus citations
  • Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

    Spurdle, A. B., Marquart, L., McGuffog, L., Healey, S., Sinilnikova, O., Wan, F., Chen, X., Beesley, J., Singer, C. F., Dressler, A. C., Gschwantler-Kaulich, D., Blum, J. L., Tung, N., Weitzel, J., Lynch, H., Garber, J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., & 58 othersFrost, D., Conroy, D., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Selkirk, C. G., Daly, M., Isaacs, C., Stoppa-Lyonnet, D., Sinilnikova, O. M., Buecher, B., Belotti, M., Mazoyer, S., Barjhoux, L., Verny-Pierre, C., Lasset, C., Dreyfus, H., Pujol, P., Collonge-Rame, M. A., Rookus, M. A., Verhoef, S., Kriege, M., Hoogerbrugge, N., Ausems, M. G. E. M., Van Os, T. A., Wijnen, J., Devilee, P., Meijers-Heijboer, H. E. J., Blok, M. J., Heikkinen, T., Nevanlinna, H., Jakubowska, A., Lubiński, J., Huzarski, T., Byrski, T., Durocher, F., Couch, F. J., Lindor, N. M., Wang, X., Thomassen, M., Domchek, S., Nathanson, K., Caligo, M. A., Jernström, H., Liljegren, A., Ehrencrona, H., Karlsson, P., Ganz, P. A., Olopade, O. I., Tomlinson, G., Neuhausen, S., Antoniou, A. C., Chenevix-Trench, G. & Rebbeck, T. R., May 2011, In: Cancer Epidemiology Biomarkers and Prevention. 20, 5, p. 1032-1038 7 p.

    Research output: Contribution to journalArticlepeer-review

    11 Scopus citations
  • Common germline polymorphisms associated with breast cancer-specific survival

    Pirie, A., Guo, Q., Kraft, P., Canisius, S., Eccles, D. M., Rahman, N., Nevanlinna, H., Chen, C., Khan, S., Tyrer, J., Bolla, M. K., Wang, Q., Dennis, J., Michailidou, K., Lush, M., Dunning, A. M., Shah, M., Czene, K., Darabi, H., Eriksson, M., & 127 othersLambrechts, D., Weltens, C., Leunen, K., van Ongeval, C., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Rudolph, A., Seibold, P., Flesch-Janys, D., Blomqvist, C., Aittomäki, K., Fagerholm, R., Muranen, T. A., Olsen, J. E., Hallberg, E., Vachon, C., Knight, J. A., Glendon, G., Mulligan, A. M., Broeks, A., Cornelissen, S., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Hopper, J. L., Tsimiklis, H., Apicella, C., Southey, M. C., Cross, S. S., Reed, M. W. R., Giles, G. G., Milne, R. L., McLean, C., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Hooning, M. J., Hollestelle, A., Martens, J. W. M., van den Ouweland, A. M. W., Marme, F., Schneeweiss, A., Yang, R., Burwinkel, B., Figueroa, J., Chanock, S. J., Lissowska, J., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Brenner, H., Butterbach, K., Holleczek, B., Kataja, V., Kosma, V. M., Hartikainen, J. M., Li, J., Brand, J. S., Humphreys, K., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Radice, P., Peterlongo, P., Manoukian, S., Ficarazzi, F., Beckmann, M. W., Hein, A., Ekici, A. B., Balleine, R., Phillips, K. A., Benitez, J., Zamora, M. P., Perez, J. I. A., Menéndez, P., Jakubowska, A., Lubinski, J., Gronwald, J., Durda, K., Hamann, U., Kabisch, M., Ulmer, H. U., Rüdiger, T., Margolin, S., Kristensen, V., Nord, S., Evans, D. G., Abraham, J., Earl, H., Poole, C. J., Hiller, L., Dunn, J. A., Bowden, S., Yang, R., Campa, D., Diver, W. R., Gapstur, S. M., Gaudet, M. M., Hankinson, S., Hoover, R. N., Hüsing, A., Kaaks, R., Machiela, M. J., Willett, W., Barrdahl, M., Canzian, F., Chin, S. F., Caldas, C., Hunter, D. J., Lindstrom, S., Garcia-Closas, M., Couch, F. J., Chenevix-Trench, G., Mannermaa, A., Andrulis, I. L., Hall, P., Chang-Claude, J., Easton, D. F., Bojesen, S. E., Cox, A., Fasching, P. A., Pharoah, P. D. P. & Schmidt, M. K., Apr 22 2015, In: Breast Cancer Research. 17, 1, 58.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    21 Scopus citations
  • Commonly studied single-nucleotide polymorphisms and breast cancer: Results from the Breast Cancer Association Consortium

    Australian Breast Cancer Family Study, British Breast Cancer Study, Copenhagen Breast Cancer Study, GENICA, Hannover Bilateral Breast Cancer Study, Genetic Epidemiologic Study of Breast Cancer by Age 50, Helsinki Breast Cancer Study, International Agency for Research on Cancer Breast Cancer Study in Thailand, Kuopio Breast Cancer Project, Mayo Clinic Breast Cancer Study, National Cancer Institute Breast Cancer Study in Poland, US Three-State Breast Cancer Study, Studies of Epidemiology and Risk Factors in Cancer Heredity, Seoul Breast Cancer Study, Sei Hyun Ahn, Ulsan University. Sheffi eld Breast Cancer Study, Spanish National Cancer Centre Breast Cancer Study & US Radiologic Technologists Study, Oct 4 2006, In: Journal of the National Cancer Institute. 98, 19, p. 1382-1396 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    210 Scopus citations
  • Common non-synonymous SNPs associated with breast cancer susceptibility: Findings from the Breast Cancer Association Consortium

    The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, Australian Ovarian Cancer Study Group, KConFab investigators, Australian Ovarian Cancer Study Group & TNBCC, Nov 15 2014, In: Human molecular genetics. 23, 22, p. 6096-6111 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    44 Scopus citations
  • Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

    Wang, X., Pankratz, V. S., Fredericksen, Z., Tarrell, R., Karaus, M., McGuffog, L., Pharaoh, P. D. P., Ponder, B. A. J., Dunning, A. M., Peock, S., Cook, M., Oliver, C., Frost, D., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Houdayer, C., Hogervorst, F. B. L., Hooning, M. J., Ligtenberg, M. J., & 24 othersSpurdle, A., Chenevix-Trench, G., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Singer, C. F., Gschwantler-Kaulich, D., Dressler, C., Fink, A., Szabo, C. I., Zikan, M., Foretova, L., Claes, K., Thomas, G., Hoover, R. N., Hunter, D. J., Chanock, S. J., Easton, D. F., Antoniou, A. C. & Couch, F. J., Apr 23 2010, In: Human molecular genetics. 19, 14, p. 2886-2897 12 p., ddq174.

    Research output: Contribution to journalArticlepeer-review

    52 Scopus citations
  • Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Couch, F. J., Gaudet, M. M., Antoniou, A. C., Ramus, S. J., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O. M., Andrulis, I. L., Ozcelik, H., Mulligan, A. M., Thomassen, M., Gerdes, A. M., & 170 othersJensen, U. B., Skytte, A. B., Kruse, T. A., Caligo, M. A., Von Wachenfeldt, A., Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Nathanson, K., Rebbeck, T. R., Domchek, S. M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zołwocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Goŕski, B., Osorio, A., Durań, M., Tejada, M. I., Benitez, J., Hamann, U., Hogervorst, F. B. L., Van Os, T. A., Van Leeuwen, F. E., Meijers-Heijboer, H. E. J., Wijnen, J., Blok, M. J., Kets, M., Hooning, M. J., Oldenburg, R. A., Ausems, M. G. E. M., Peock, S., Frost, D., Ellis, S. D., Platte, R., Fineberg, E., Evans, D. G., Jacobs, C., Eeles, R. A., Adlard, J., Davidson, R., Eccles, D. M., Cole, T., Cook, J., Paterson, J., Brewer, C., Douglas, F., Hodgson, S. V., Morrison, P. J., Walker, L., Porteous, M. E., Kennedy, M. J., Side, L. E., Bove, B., Godwin, A. K., Stoppa-Lyonnet, D., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leóne, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Lynch, H. T., Snyder, C. L., Buys, S. S., Daly, M. B., Terry, M. B., Chung, W. K., John, E. M., Miron, A., Southey, M. C., Hopper, J. L., Goldgar, D. E., Singer, C. F., Rappaport, C., Tea, M. K. M., Fink-Retter, A., Hansen, T. V. O., Nielsen, F. C., Arason, A., Vijai, J., Shah, S., Sarrel, K., Robson, M. E., Piedmonte, M., Phillips, K., Basil, J., Rubinstein, W. S., Boggess, J., Wakeley, K., Ewart-Toland, A., Montagna, M., Agata, S., Imyanitov, E. N., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Feliubadalo, L., Brunet, J., Gayther, S. A., Pharoah, P. P. D., Odunsi, K. O., Karlan, B. Y., Walsh, C. S., Olah, E., Teo, S. H., Ganz, P. A., Beattie, M. S., Van Rensburg, E. J., Dorfling, C. M., Diez, O., Kwong, A., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Heidemann, S., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Fiebig, B., Heinritz, W., Caldes, T., De La Hoya, M., Muranen, T. A., Nevanlinna, H., Tischkowitz, M. D., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Lindor, N. M., Fredericksen, Z., Pankratz, V. S., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Bernard, L., Viel, A., Giannini, G., Varesco, L., Radice, P., Greene, M. H., Mai, P. L., Easton, D. F., Chenevix-Trench, G., Offit, K. & Simard, J., Apr 2012, In: Cancer Epidemiology Biomarkers and Prevention. 21, 4, p. 645-657 13 p.

    Research output: Contribution to journalArticlepeer-review

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

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

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L., & 117 othersRadice, P., Szabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P. L., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Ozcelik, H., Glendon, G., Gerdes, A. M., Thomassen, M., Sunde, L., Caligo, M. A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Dagan, E., Baruch, R. G., Friedman, E., Harbst, K., Barbany-Bustinza, G., Rantala, J., Ehrencrona, H., Karlsson, P., Domchek, S. M., Nathanson, K. L., Osorio, A., Blanco, I., Lasa, A., Benítez, J., Hamann, U., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., Godwin, A. K., Stoppa-Lyonnet, D., Buecher, B., Léoné, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G. M., Sevenet, N., Longy, M., Ferrer, S. F., Prieur, F., Goldgar, D., Miron, A., John, E. M., Buys, S. S., Daly, M. B., Hopper, J. L., Terry, M. B., Yassin, Y., Singer, C., Gschwantler-Kaulich, D., Staudigl, C., Hansen, T. V. O., Barkardottir, R. B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, 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., Deißler, H., Fiebig, B., Suttner, C., Schönbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, K. A., Easton, D. F. & Chenevix-Trench, G., 2009, In: Human molecular genetics. 18, 22, p. 4442-4456 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    91 Scopus citations
  • Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

    Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Glendon, G., Selander, T., Weerasooriya, N., Thomassen, M., Gerdes, A. M., Caligo, M. A., & 302 othersFriedman, E., Laitman, Y., Kaufman, B., Paluch, S. S., Borg, Å., Karlsson, P., Askmalm, M. S., Bustinza, G. B., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benítez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, L. D., Paterson, J., Eason, J., Godwin, A. K., Remon, M. A., Moncoutier, V., Gauthier-Villars, M., Lasset, C., Giraud, S., Hardouin, A., Berthet, P., Sobol, H., Eisinger, F., de Paillerets, B. B., Caron, O., Delnatte, C., Goldgar, D., Miron, A., Ozcelik, H., Buys, S., Southey, M. C., Terry, M. B., Singer, C. F., Dressler, A. C., Tea, M. K., Hansen, T. V. O., Johannsson, O., Piedmonte, M., Rodriguez, G. C., Basil, J. B., Blank, S., Toland, A. E., Montagna, M., Isaacs, C., Blanco, I., Gayther, S. A., Moysich, K. B., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Sutter, C., Gadzicki, D., Fiebig, B., Caldes, T., Laframboise, R., Nevanlinna, H., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Peterlongo, P., Manoukian, S., Bernard, L., Radice, P., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Stoppa-Lyonnet, D., Mazoyer, S., Sinilnikova, O. M., Nordling, M., Bergman, A., Einbeigi, Z., Stenmark-Askmalm, M., Liedgren, S., Borg, Å., Loman, N., Olsson, H., Kristoffersson, U., Soller, M., Jernström, H., Harbst, K., Henriksson, K., Lindblom, A., Arver, B., von Wachenfeldt, A., Liljegren, A., Barbany-Bustinza, G., Rantala, J., Melin, B., Grönberg, H., Stattin, E. L., Emanuelsson, M., Ehrencrona, H., Brandell, R. R., Dahl, N., Hogervorst, F. B. L., Verhoef, S., Verheus, M., van't Veer, L. J., van Leeuwen, F. E., Rookus, M. A., Collée, M., Jager, A., Hooning, M. J., Tilanus-Linthorst, M. M. A., Seynaeve, C., van Asperen, C. J., Wijnen, J. T., Vreeswijk, M. P., Tollenaar, R. A., Ligtenberg, M. J., Hoogerbrugge, N., Ausems, M. G., van der Luijt, R. B., Aalfs, C. M., van Os, T. A., Gille, J. J. P., Waisfisz, Q., Meijers-Heijboer, H. E. J., Gomez-Garcia, E. B., van Roozendaal, C. E., Blok, M. J., Caanen, B., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., Vasen, H. F., Peock, S., Cook, M., Frost, D., Platte, R., Miedzybrodzka, Z., Gregory, H., Morrison, P., Jeffers, L., Cole, T., Ong, K. R., Hoffman, J., Donaldson, A., James, M., Paterson, J., Downing, S., Taylor, A., Murray, A., Rogers, M. T., McCann, E., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Brewer, C., Kivuva, E., Searle, A., Goodman, S., Hill, K., Davidson, R., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Izatt, L., Jacobs, C., Langman, C., Whaite, A., Dorkins, H., Barwell, J., Adlard, J., Chu, C., Miller, J., Ellis, I., Houghton, C., Lalloo, F., Taylor, J., Side, L., Male, A., Berlin, C., Eason, J., Collier, R., Douglas, F., Claber, O., Jobson, I., Walker, L., McLeod, D., Halliday, D., Durell, S., Stayner, B., Eeles, R., Shanley, S., Rahman, N., Houlston, R., Bancroft, E., D'Mello, L., Page, E., Ardern-Jones, A., Kohut, K., Wiggins, J., Castro, E., Mitra, A., Robertson, L., Cook, J., Quarrell, O., Bardsley, C., Hodgson, S., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Eccles, D., Lucassen, A., Crawford, G., McBride, D., Smalley, S., Sinilnikova, O., Barjhoux, L., Verny-Pierre, C., Giraud, S., Léone, M., Mazoyer, S., Stoppa-Lyonnet, D., Gauthier-Villars, M., Buecher, B., Houdayer, C., Moncoutier, V., Belotti, M., Tirapo, C., de Pauw, A., Bressac-de-Paillerets, B., Remenieras, A., Byrde, V., Caron, O., Lenoir, G., Bignon, Y. J., Uhrhammer, N., Bonadona, V., Hardouin, A., Berthet, P., Sobol, H., Bourdon, V., Noguchi, T., Eisinger, F., Coulet, F., Colas, C., Soubrier, F., Coupier, I., Pujol, P., Peyrat, J. P., Fournier, J., Révillion, F., Vennin, P., Adenis, C., Rouleau, E., Lidereau, R., Demange, L., Nogues, C., Muller, D., Fricker, J. P., Longy, M., Sevenet, N., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Leroux, D., Dreyfus, H., Rebischung, C., Coron, F., Faivre, L., Prieur, F., Lebrun, M., Ferrer, S. F., Frénay, M. & Vénat-Bouvet, L., Dec 1 2011, In: Human molecular genetics. 20, 23, p. 4732-4747 16 p.

    Research output: Contribution to journalArticlepeer-review

    21 Scopus citations
  • Common variation in nemo-like kinase is associated with risk of ovarian cancer

    Stevens, K. N., Kelemen, L. E., Wang, X., Fridley, B. L., Vierkant, R. A., Fredericksen, Z., Armasu, S. M., Tsai, Y. Y., Berchuck, A., Narod, S. A., Phelan, C. M., Sutphen, R., Birrer, M. J., Schildkraut, J. M., Sellers, T. A., Goode, E. L. & Couch, F. J., Mar 2012, In: Cancer Epidemiology Biomarkers and Prevention. 21, 3, p. 523-528 6 p.

    Research output: Contribution to journalArticlepeer-review

    8 Scopus citations
  • Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

    Hein, R., Maranian, M., Hopper, J. L., Kapuscinski, M. K., Southey, M. C., Park, D. J., Schmidt, M. K., Broeks, A., Hogervorst, F. B. L., Bueno-de-Mesquit, H. B., Muir, K. R., Lophatananon, A., Rattanamongkongul, S., Puttawibul, P., Fasching, P. A., Hein, A., Ekici, A. B., Beckmann, M. W., Fletcher, O., Johnson, N., & 148 othersdos Santos Silva, I., Peto, J., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Marmee, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guénel, P., Cordina-Duverger, E., Menegaux, F., Truong, T., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Milne, R. L., Perez, J. I. A., Zamora, M. P., Benítez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Clarke, C. A., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Rahman, N., Seal, S., Turnbull, C., Renwick, A., Meindl, A., Schott, S., Bartram, C. R., Schmutzler, R. K., Brauch, H., Hamann, U., Ko, Y. D., Wang-Gohrke, S., Dörk, T., Schürmann, P., Karstens, J. H., Hillemanns, P., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C., Bogdanova, N. V., Zalutsky, I. V., Antonenkova, N. N., Bermisheva, M., Prokovieva, D., Farahtdinova, A., Khusnutdinova, E., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J., Chen, X., Beesley, J., Lambrechts, D., Zhao, H., Neven, P., Wildiers, H., Nickels, S., Flesch-Janys, D., Radice, P., Peterlongo, P., Manoukian, S., Barile, M., Couch, F. J., Olson, J. E., Wang, X., Fredericksen, Z., Giles, G. G., Baglietto, L., McLean, C. A., Severi, G., Offit, K., Robson, M., Gaudet, M. M., Vijai, J., Alnæs, G. G., Kristensen, V., Børresen-Dale, A. L., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Figueroa, J. D., García-Closas, M., Lissowska, J., Sherman, M. E., Hooning, M., Martens, J. W. M., Seynaeve, C., Collée, M., Hall, P., Humpreys, K., Czene, K., Liu, J., Cox, A., Brock, I. W., Cross, S. S., Reed, M. W. R., Ahmed, S., Ghoussaini, M., Pharoah, P. DP., Kang, D., Yoo, K. Y., Noh, D. Y., Jakubowska, A., Jaworska, K., Durda, K., Złowocka, E., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Shen, C. Y., Yu, J. C., Hsu, H. M., Hou, M. F., Orr, N., Schoemaker, M., Ashworth, A., Swerdlow, A., Trentham-Dietz, A., Newcomb, P. A., Titus, L., Egan, K. M., Chenevix-Trench, G., Antoniou, A. C., Humphreys, M. K., Morrison, J., Chang-Claude, J., Easton, D. F. & Dunning, A. M., Aug 7 2012, In: PloS one. 7, 8, e42380.

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    48 Scopus citations
  • Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing

    Whiley, P. J., De La Hoya, M., Thomassen, M., Becker, A., Brandão, R., Pedersen, I. S., Montagna, M., Menéndez, M., Quiles, F., Gutiérrez-Enríquez, S., Leeneer, K. D., Tenés, A., Montalban, G., Tserpelis, D., Yoshimatsu, T., Tirapo, C., Raponi, M., Caldes, T., Blanco, A., Santamariña, M., & 30 othersGuidugli, L., De Garibay, G. R., Wong, M., Tancredi, M., Fachal, L., Ding, Y. C., Kruse, T., Lattimore, V., Kwong, A., Chan, T. L., Colombo, M., De Vecchi, G., Caligo, M., Baralle, D., Lázaro, C., Couch, F., Radice, P., Southey, M. C., Neuhausen, S., Houdayer, C., Fackenthal, J., Van Overeem Hansen, T., Vega, A., Diez, O., Blok, R., Claes, K., Wappenschmidt, B., Walker, L., Spurdle, A. B. & Brown, M. A., Feb 2014, In: Clinical chemistry. 60, 2, p. 341-352 12 p.

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    44 Scopus citations
  • Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women with Breast Cancer in the United States

    Domchek, S. M., Yao, S., Chen, F., Hu, C., Hart, S. N., Goldgar, D. E., Nathanson, K. L., Ambrosone, C. B., Haiman, C. A., Couch, F. J., Polley, E. C. & Palmer, J. R., Jul 2021, In: JAMA Oncology. 7, 7, p. 1045-1050 6 p.

    Research output: Contribution to journalArticlepeer-review

  • Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

    Hart, S. N., Hoskin, T., Shimelis, H., Moore, R. M., Feng, B., Thomas, A., Lindor, N. M., Polley, E. C., Goldgar, D. E., Iversen, E., Monteiro, A. N. A., Suman, V. J. & Couch, F. J., Jan 1 2019, In: Genetics in Medicine. 21, 1, p. 71-80 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Scopus citations
  • Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

    O'Mara, T. A., Glubb, D. M., Painter, J. N., Cheng, T., Dennis, J., Attia, J., Holliday, E. G., McEvoy, M., Scott, R. J., Ashton, K., Proietto, T., Otton, G., Shah, M., Ahmed, S., Healey, C. S., Gorman, M., Martin, L., Hodgson, S., Fasching, P. A., Hein, A., & 49 othersBeckmann, M. W., Ekici, A. B., Hall, P., Czene, K., Darabi, H., Li, J., Dürst, M., Runnebaum, I., Hillemanns, P., Dörk, T., Lambrechts, D., Depreeuw, J., Annibali, D., Amant, F., Zhao, H., Goode, E. L., Dowdy, S. C., Fridley, B. L., Winham, S. J., Salvesen, H. B., Njølstad, T. S., Trovik, J., Werner, H. M. J., Tham, E., Liu, T., Mints, M., Bolla, M. K., Michailidou, K., Tyrer, J. P., Wang, Q., 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., Dunning, A. M., Tomlinson, I., Easton, D. F., Thompson, D. J. & Spurdle, A. B., Oct 1 2015, In: Endocrine-Related Cancer. 22, 5, p. 851-861 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    18 Scopus citations
  • Comprehensive molecular portraits of human breast tumours

    Koboldt, D. C., Fulton, R. S., McLellan, M. D., Schmidt, H., Kalicki-Veizer, J., McMichael, J. F., Fulton, L. L., Dooling, D. J., Ding, L., Mardis, E. R., Wilson, R. K., Ally, A., Balasundaram, M., Butterfield, Y. S. N., Carlsen, R., Carter, C., Chu, A., Chuah, E., Chun, H. J. E., Coope, R. J. N., & 323 othersDhalla, N., Guin, R., Hirst, C., Hirst, M., Holt, R. A., Lee, D., Li, H. I., Mayo, M., Moore, R. A., Mungall, A. J., Pleasance, E., Robertson, A. G., Schein, J. E., Shafiei, A., Sipahimalani, P., Slobodan, J. R., Stoll, D., Tam, A., Thiessen, N., Varhol, R. J., Wye, N., Zeng, T., Zhao, Y., Birol, I., Jones, S. J. M., Marra, M. A., Cherniack, A. D., Saksena, G., Onofrio, R. C., Pho, N. H., Carter, S. L., Schumacher, S. E., Tabak, B., Hernandez, B., Gentry, J., Nguyen, H., Crenshaw, A., Ardlie, K., Beroukhim, R., Winckler, W., Getz, G., Gabriel, S. B., Meyerson, M., Chin, L., Kucherlapati, R., Hoadley, K. A., Auman, J. T., Fan, C., Turman, Y. J., Shi, Y., Li, L., Topal, M. D., He, X., Chao, H. H., Prat, A., Silva, G. O., Iglesia, M. D., Zhao, W., Usary, J., Berg, J. S., Adams, M., Booker, J., Wu, J., Gulabani, A., Bodenheimer, T., Hoyle, A. P., Simons, J. V., Soloway, M. G., Mose, L. E., Jefferys, S. R., Balu, S., Parker, J. S., Hayes, D. N., Perou, C. M., Malik, S., Mahurkar, S., Shen, H., Weisenberger, D. J., Triche, T., Lai, P. H., Bootwalla, M. S., Maglinte, D. T., Berman, B. P., Van Den Berg, D. J., Baylin, S. B., Laird, P. W., Creighton, C. J., Donehower, L. A., Noble, M., Voet, D., Gehlenborg, N., Di Cara, D., Zhang, J., Zhang, H., Wu, C. J., Yingchun Liu, S., Lawrence, M. S., Zou, L., Sivachenko, A., Lin, P., Stojanov, P., Jing, R., Cho, J., Sinha, R., Park, R. W., Nazaire, M. D., Robinson, J., Thorvaldsdottir, H., Mesirov, J., Park, P. J., Reynolds, S., Kreisberg, R. B., Bernard, B., Bressler, R., Erkkila, T., Lin, J., Thorsson, V., Zhang, W., Shmulevich, I., Ciriello, G., Weinhold, N., Schultz, N., Gao, J., Cerami, E., Gross, B., Jacobsen, A., Sinha, R., Aksoy, B. A., Antipin, Y., Reva, B., Shen, R., Taylor, B. S., Ladanyi, M., Sander, C., Anur, P., Spellman, P. T., Lu, Y., Liu, W., Verhaak, R. R. G., Mills, G. B., Akbani, R., Zhang, N., Broom, B. M., Casasent, T. D., Wakefield, C., Unruh, A. K., Baggerly, K., Coombes, K., Weinstein, J. N., Haussler, D., Benz, C. C., Stuart, J. M., Benz, S. C., Zhu, J., Szeto, C. C., Scott, G. K., Yau, C., Paull, E. O., Carlin, D., Wong, C., Sokolov, A., Thusberg, J., Mooney, S., Ng, S., Goldstein, T. C., Ellrott, K., Grifford, M., Wilks, C., Ma, S., Craft, B., Yan, C., Hu, Y., Meerzaman, D., Gastier-Foster, J. M., Bowen, J., Ramirez, N. C., Black, A. D., Pyatt, R. E., White, P., Zmuda, E. J., Frick, J., Lichtenberg, T. M., Brookens, R., George, M. M., Gerken, M. A., Harper, H. A., Leraas, K. M., Wise, L. J., Tabler, T. R., McAllister, C., Barr, T., Hart-Kothari, M., Tarvin, K., Saller, C., Sandusky, G., Mitchell, C., Iacocca, M. V., Brown, J., Rabeno, B., Czerwinski, C., Petrelli, N., Dolzhansky, O., Abramov, M., Voronina, O., Potapova, O., Marks, J. R., Suchorska, W. M., Murawa, D., Kycler, W., Ibbs, M., Korski, K., Spychała, A., Murawa, P., Brzeziński, J. J., Perz, H., Łaźniak, R., Teresiak, M., Tatka, H., Leporowska, E., Bogusz-Czerniewicz, M., Malicki, J., Mackiewicz, A., Wiznerowicz, M., Van Le, X., Kohl, B., Viet Tien, N., Thorp, R., Van Bang, N., Sussman, H., Phu, B. D., Hajek, R., Hung, N. P., Phuong, T. V. T., Thang, H. Q., Khan, K. Z., Penny, R., Mallery, D., Curley, E., Shelton, C., Yena, P., Ingle, J. N., Couch, F. J., Lingle, W. L., King, T. A., Gonzalez-Angulo, A. M., Dyer, M. D., Liu, S., Meng, X., Patangan, M., Waldman, F., Stöppler, H., Rathmell, W. K., Thorne, L., Huang, M., Boice, L., Hill, A., Morrison, C., Gaudioso, C., Bshara, W., Daily, K., Egea, S. C., Pegram, M. D., Gomez-Fernandez, C., Dhir, R., Bhargava, R., Brufsky, A., Shriver, C. D., Hooke, J. A., Campbell, J. L., Mural, R. J., Hu, H., Somiari, S., Larson, C., Deyarmin, B., Kvecher, L., Kovatich, A. J., Ellis, M. J., Stricker, T., White, K., Olopade, O., Luo, C., Chen, Y., Bose, R., Chang, L. W., Beck, A. H., Pihl, T., Jensen, M., Sfeir, R., Kahn, A., Chu, A., Kothiyal, P., Wang, Z., Snyder, E., Pontius, J., Ayala, B., Backus, M., Walton, J., Baboud, J., Berton, D., Nicholls, M., Srinivasan, D., Raman, R., Girshik, S., Kigonya, P., Alonso, S., Sanbhadti, R., Barletta, S., Pot, D., Sheth, M., Demchok, J. A., Shaw, K. R. M., Yang, L., Eley, G., Ferguson, M. L., Tarnuzzer, R. W., Zhang, J., Dillon, L. A. L., Buetow, K., Fielding, P., Ozenberger, B. A., Guyer, M. S., Sofia, H. J. & Palchik, J. D., Oct 4 2012, In: Nature. 490, 7418, p. 61-70 10 p.

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  • Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

    Milne, R. L., Goode, E. L., García-Closas, M., Couch, F. J., Severi, G., Hein, R., Fredericksen, Z., Malats, N., Zamora, M. P., Pérez, J. I. A., Benítez, J., Dörk, T., Schürmann, P., Karstens, J. H., Hillemanns, P., Cox, A., Brock, I. W., Elliot, G., Cross, S. S., Seal, S., & 123 othersTurnbull, C., Renwick, A., Rahman, N., Shen, C. Y., Yu, J. C., Huang, C. S., Hou, M. F., Nordestgaard, B. G., Bojesen, S. E., Lanng, C., Alnæs, G. G., Kristensen, V., Børrensen-Dale, A. L., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Lambrechts, D., Yesilyurt, B. T., Floris, G., Leunen, K., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Chang-Claude, J., Wang-Gohrke, S., Radice, P., Peterlongo, P., Manoukian, S., Barile, M., Giles, G. G., Baglietto, L., John, E. M., Miron, A., Chanock, S. J., Lissowska, J., Sherman, M. E., Figueroa, J. D., Bogdanova, N. V., Antonenkova, N. N., Zalutsky, I. V., Rogov, Y. I., Fasching, P. A., Bayer, C. M., Ekici, A. B., Beckmann, M. W., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Meindl, A., Heil, J., Bartram, C. R., Schmutzler, R. K., Thomas, G. D., Hoover, R. N., Fletcher, O., Gibson, L. J., Dos Santos Silva, I., Peto, J., Nickels, S., Flesch-Janys, D., Anton-Culver, H., Ziogas, A., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Schmidt, M. K., Broeks, A., Van't Veer, L. J., Tollenaar, R. A. E. M., Pharoah, P. D. P., Dunning, A. M., Pooley, K. A., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Kang, D., Yoo, K. Y., Noh, D. Y., Ahn, S. H., Hunter, D. J., Hankinson, S. E., Kraft, P., Lindstrom, S., Chen, X., Beesley, J., Hamann, U., Harth, V., Justenhoven, C., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Hooning, M., Hollestelle, A., Oldenburg, R. A., Tilanus-Linthorst, M., Khusnutdinova, E., Bermisheva, M., Prokofieva, D., Farahtdinova, A., Olson, J. E., Wang, X., Humphreys, M. K., Wang, Q., Chenevix-Trench, G. & Easton, D. F., Oct 2011, In: Cancer Epidemiology Biomarkers and Prevention. 20, 10, p. 2222-2231 10 p.

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    23 Scopus citations
  • Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing

    Balmaña, J., Digiovanni, L., Gaddam, P., Walsh, M. F., Joseph, V., Stadler, Z. K., Nathanson, K. L., Garber, J. E., Couch, F. J., Offit, K., Robson, M. E. & Domchek, S. M., Dec 1 2016, In: Journal of Clinical Oncology. 34, 34, p. 4071-4078 8 p.

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    99 Scopus citations
  • Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening

    Andersen, T. I., Eiken, H. G., Couch, F., Kaada, G., Skrede, M., Johnsen, H., Aloysius, T. A., Tveit, K. M., Tranebjærg, L., Dørum, A., Møller, P., Weber, B. L. & Børresen-Dale, A. L., 1998, In: Human mutation. 11, 2, p. 166-174 9 p.

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    13 Scopus citations
  • Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17

    Brody, L. C., Abel, K. J., Castilla, L. H., Couch, F. J., McKinley, D. R., Yin, G., Ho, P. P., Merajver, S., Chandrasekharappa, S. C., Xu, J., Cole, J. L., Struewing, J. P., Valdes, J. M., Collins, F. S. & Weber, B. L., Jan 1 1995, In: Genomics. 25, 1, p. 238-247 10 p.

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  • Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women

    Palmer, J. R., Polley, E. C., Hu, C., John, E. M., Haiman, C., Hart, S. N., Gaudet, M., Pal, T., Anton-Culver, H., Trentham-DIetz, A., Bernstein, L., Ambrosone, C. B., Bandera, E. V., Bertrand, K. A., Bethea, T. N., Gao, C., Gnanaolivu, R. D., Huang, H., Lee, K. Y., Lemarchand, L., & 12 othersNa, J., Sandler, D. P., Shah, P. D., Yadav, S., Yang, W., Weitzel, J. N., Domchek, S. M., Goldgar, D. E., Nathanson, K. L., Kraft, P., Yao, S. & Couch, F. J., Dec 1 2020, In: Journal of the National Cancer Institute. 112, 12, p. 1213-1221 9 p.

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    10 Scopus citations
  • Contribution of inherited DNA-repair gene mutations to hormone-sensitive and castrate-resistant metastatic prostate cancer and implications for clinical outcome

    Yadav, S., Hart, S. N., Hu, C., Hillman, D., Lee, K. Y., Gnanaolivu, R., Na, J., Polley, E. C., Couch, F. J. & Kohli, M., 2019, In: JCO Precision Oncology. 3, p. 1-12 12 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2

    Xia, B., Sheng, Q., Nakanishi, K., Ohashi, A., Wu, J., Christ, N., Liu, X., Jasin, M., Couch, F. J. & Livingston, D. M., Jun 23 2006, In: Molecular Cell. 22, 6, p. 719-729 11 p.

    Research output: Contribution to journalArticlepeer-review

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  • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, KConFab investigators & HEBON Investigators, Oct 6 2022, In: Communications Biology. 5, 1, p. 1061 1 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer

    Candido dos Reis, F. J., Lynn, S., Ali, H. R., Eccles, D., Hanby, A., Provenzano, E., Caldas, C., Howat, W. J., McDuffus, L. A., Liu, B., Daley, F., Coulson, P., Vyas, R. J., Harris, L. M., Owens, J. M., Carton, A. F. M., McQuillan, J. P., Paterson, A. M., Hirji, Z., Christie, S. K., & 26 othersHolmes, A. R., Schmidt, M. K., Garcia-Closas, M., Easton, D. F., Bolla, M. K., Wang, Q., Benitez, J., Milne, R. L., Mannermaa, A., Couch, F., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Cox, A., Cross, S. S., Blows, F. M., Sanders, J., de Groot, R., Figueroa, J., Sherman, M., Hooning, M., Brenner, H., Holleczek, B., Stegmaier, C., Lintott, C. & Pharoah, P. D. P., Jul 1 2015, In: EBioMedicine. 2, 7, p. 681-689 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    37 Scopus citations
  • Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients

    Augusto, B., Kasting, M. L., Couch, F. J., Lindor, N. M. & Vadaparampil, S. T., Apr 15 2019, In: Journal of Immigrant and Minority Health. 21, 2, p. 434-437 4 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • CYP19A1 fine-mapping and Mendelian randomization: Estradiol is causal for endometrial cancer

    Australian National Endometrial Cancer Study Group (ANECS), Feb 2016, In: Endocrine-Related Cancer. 23, 2, p. 77-91 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    33 Scopus citations
  • CYP2B6*6 is associated with increased breast cancer risk

    Justenhoven, C., Pentimalli, D., Rabstein, S., Harth, V., Lotz, A., Pesch, B., Brüning, T., Dörk, T., Schürmann, P., Bogdanova, N., Park-Simon, T. W., Couch, F. J., Olson, J. E., Fasching, P. A., Beckmann, M. W., Häberle, L., Ekici, A., Hall, P., Czene, K., Liu, J., & 5 othersLi, J., Baisch, C., Hamann, U., Ko, Y. D. & Brauch, H., Jan 15 2014, In: International Journal of Cancer. 134, 2, p. 426-430 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    17 Scopus citations
  • CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

    NBCS Collaborators, AOCS Group, ABCTB Investigators & KConFab investigators, Feb 16 2021, In: British journal of cancer. 124, 4, p. 842-854 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Cytochrome P450 2D6 and homeobox 13/interleukin-17B receptor: Combining inherited and tumor gene markers for prediction of tamoxifen resistance

    Goetz, M. P., Suman, V. J., Couch, F. J., Ames, M. M., Rae, J. M., Erlander, M. G., Ma, X. J., Sgroi, D. C., Reynolds, C. A., Lingle, W. L., Weinshilboum, R. M., Flockhart, D. A., Desta, Z., Perez, E. A. & Ingle, J. N., Sep 15 2008, In: Clinical Cancer Research. 14, 18, p. 5864-5868 5 p.

    Research output: Contribution to journalArticlepeer-review

    22 Scopus citations
  • Dense and nondense Mammographic area and risk of breast cancer by age and tumor characteristics

    Bertrand, K. A., Scott, C. G., Tamimi, R. M., Jensen, M. R., Pankratz, V. S., Norman, A. D., Visscher, D. W., Couch, F. J., Shepherd, J., Chen, Y. Y., Fan, B., Wu, F. F., Ma, L., Beck, A. H., Cummings, S. R., Kerlikowske, K. & Vachon, C. M., May 1 2015, In: Cancer Epidemiology Biomarkers and Prevention. 24, 5, p. 798-809 12 p.

    Research output: Contribution to journalArticlepeer-review

    34 Scopus citations
  • Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: Implications for prediction of pathogenicity

    Walker, L. C., Whiley, P. J., Couch, F. J., Farrugia, D. J., Healey, S., Eccles, D. M., Lin, F., Butler, S. A., Goff, S. A., Thompson, B. A., Lakhani, S. R., Da Silva, L. M., Tavtigian, S. V., Goldgar, D. E., Brown, M. A. & Spurdle, A. B., Jun 2010, In: Human mutation. 31, 6, p. E1484-E1505

    Research output: Contribution to journalArticlepeer-review

    49 Scopus citations
  • Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

    Carvalho, M. A., Marsillac, S. M., Karchin, R., Manoukian, S., Grist, S., Swaby, R. F., Urmenyi, T. P., Rondinelli, E., Silva, R., Gayol, L., Baumbach, L., Sutphen, R., Pickard-Brzosowicz, J. L., Nathanson, K. L., Sali, A., Goldgar, D., Couch, F. J., Radice, P. & Monteiro, A. N. A., Feb 15 2007, In: Cancer research. 67, 4, p. 1494-1501 8 p.

    Research output: Contribution to journalArticlepeer-review

    96 Scopus citations
  • Development of donor-derived prostate cancer in a recipient following orthotopic heart transplantation

    Loh, E., Couch, F. J., Hendricksen, C., Farid, L., Kelly, P. F., Acker, M. A., Tomaszewski, J. E., Malkowicz, S. B. & Weber, B. L., Jan 8 1997, In: JAMA. 277, 2, p. 133-137 5 p.

    Research output: Contribution to journalArticlepeer-review

    78 Scopus citations
  • Dinucleotide repeat polymorphism at the D17S18 locus

    Couch, F. J., Mccarthy, T. V., Gregg, R. G. & Hogan, K., Sep 25 1991, In: Nucleic acids research. 19, 18, p. 5093 1 p.

    Research output: Contribution to journalArticlepeer-review

    7 Scopus citations
  • Dinucleotide repeat polymorphism at the RTR1 locus (19q13.1)

    Couch, F. J., Mccarthy, T. V., Hogan, K. & Gregg, R. G., Sep 25 1991, In: Nucleic acids research. 19, 18, p. 5094 1 p.

    Research output: Contribution to journalArticlepeer-review

    12 Scopus citations
  • Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis

    Rohlfs, E. M., Learning, W. G., Friedman, K. J., Couch, F. J., Weber, B. L. & Silverman, L. M., 1997, In: Clinical chemistry. 43, 1, p. 24-29 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    61 Scopus citations
  • Disseminated medulloblastoma in a child with germline BRCA2 6174delT mutation and without Fanconi anemia

    Xu, J., Margol, A. S., Shukla, A., Ren, X., Finlay, J. L., Krieger, M. D., Gilles, F. H., Couch, F. J., Aziz, M., Fung, E. T., Asgharzadeh, S., Barrett, M. T. & Erdreich-Epstein, A., 2015, In: Frontiers in Oncology. 5, Aug, 191.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Scopus citations
  • DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Osorio, A., Milne, R. L., Kuchenbaecker, K., Vaclová, T., Pita, G., Alonso, R., Peterlongo, P., Blanco, I., de la Hoya, M., Duran, M., Díez, O., Ramón y Cajal, T., Konstantopoulou, I., Martínez-Bouzas, C., Andrés Conejero, R., Soucy, P., McGuffog, L., Barrowdale, D., Lee, A., Arver, B., & 177 othersRantala, J., Loman, N., Ehrencrona, H., Olopade, O. I., Beattie, M. S., Domchek, S. M., Nathanson, K., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Walsh, C., Lester, J., John, E. M., Whittemore, A. S., Daly, M. B., Southey, M., Hopper, J., Terry, M. B., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Steele, L., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Ejlertsen, B., Gerdes, A. M., Infante, M., Herráez, B., Moreno, L. T., Weitzel, J. N., Herzog, J., Weeman, K., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Bonanni, B., Mariette, F., Volorio, S., Viel, A., Varesco, L., Papi, L., Ottini, L., Tibiletti, M. G., Radice, P., Yannoukakos, D., Garber, J., Ellis, S., Frost, D., Platte, R., Fineberg, E., Evans, G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Eccles, D., Cook, J., Hodgson, S., Brewer, C., Tischkowitz, M., Douglas, F., Porteous, M., Side, L., Walker, L., Morrison, P., Donaldson, A., Kennedy, J., Foo, C., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H. J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Damiola, F., Poppe, B., Claes, K., Piedmonte, M., Tucker, K., Backes, F., Rodríguez, G., Brewster, W., Wakeley, K., Rutherford, T., Caldés, T., Nevanlinna, H., Aittomäki, K., Rookus, M. A., van Os, T. A. M., van der Kolk, L., de Lange, J. L., Meijers-Heijboer, H. E. J., van der Hout, A. H., van Asperen, C. J., Gómez Garcia, E. B., Hoogerbrugge, N., Collée, J. M., van Deurzen, C. H. M., van der Luijt, R. B., Devilee, P., Olah, E., Lázaro, C., Teulé, A., Menéndez, M., Jakubowska, A., Cybulski, C., Gronwald, J., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Johannsson, O. T., Maugard, C., Montagna, M., Tognazzo, S., Teixeira, M. R., Healey, S., Olswold, C., Guidugli, L., Lindor, N., Slager, S., Szabo, C. I., Vijai, J., Robson, M., Kauff, N., Zhang, L., Rau-Murthy, R., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler Kaulich, D., Pfeiler, G., Tea, M. K., Berger, A., Phelan, C. M., Greene, M. H., Mai, P. L., Lejbkowicz, F., Andrulis, I., Mulligan, A. M., Glendon, G., Toland, A. E., Bojesen, A., Pedersen, I. S., Sunde, L., Thomassen, M., Kruse, T. A., Jensen, U. B., Friedman, E., Laitman, Y., Shimon, S. P., Simard, J., Easton, D. F., Offit, K., Couch, F. J., Chenevix-Trench, G., Antoniou, A. C. & Benitez, J., Apr 2014, In: PLoS genetics. 10, 4, e1004256.

    Research output: Contribution to journalArticlepeer-review

    28 Scopus citations
  • DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

    Perry, J. R. B., Hsu, Y. H., Chasman, D. I., Johnson, A. D., Elks, C., Albrecht, E., Andrulis, I. L., Beesley, J., Berenson, G. S., Bergmann, S., Bojesen, S. E., Bolla, M. K., Brown, J., Buring, J. E., Campbell, H., Chang-Claude, J., Chenevix-Trench, G., Corre, T., Couch, F. J., Cox, A., & 61 othersCzene, K., D'adamo, A. P., Davies, G., Deary, I. J., Dennis, J., Easton, D. F., Engelhardt, E. G., Eriksson, J. G., Esko, T., Fasching, P. A., Figueroa, J. D., Flyger, H., Fraser, A., Garcia-Closas, M., Gasparini, P., Gieger, C., Giles, G., Guenel, P., Hägg, S., Hall, P., Hayward, C., Hopper, J., Ingelsson, E., Kardia, S. L. R., Kasiman, K., Knight, J. A., Lahti, J., Lawlor, D. A., Magnusson, P. K. E., Margolin, S., Marsh, J. A., Metspalu, A., Olson, J. E., Pennell, C. E., Polasek, O., Rahman, I., Ridker, P. M., Robino, A., Rudan, I., Rudolph, A., Salumets, A., Schmidt, M. K., Schoemaker, M. J., Smith, E. N., Smith, J. A., Southey, M., Stöckl, D., Swerdlow, A. J., Thompson, D. J., Truong, T., Ulivi, S., Waldenberger, M., Wang, Q., Wild, S., Wilson, J. F., Wright, A. F., Zgaga, L., Ong, K. K., Murabito, J. M., Karasik, D. & Murray, A., May 2014, In: Human molecular genetics. 23, 9, p. 2490-2497 8 p., ddt620.

    Research output: Contribution to journalArticlepeer-review

    31 Scopus citations
  • Does mammographic density mediate risk factor associations with breast cancer? An analysis by tumor characteristics

    Rice, M. S., Tamimi, R. M., Bertrand, K. A., Scott, C. G., Jensen, M. R., Norman, A. D., Visscher, D. W., Chen, Y. Y., Brandt, K. R., Couch, F. J., Shepherd, J. A., Fan, B., Wu, F. F., Ma, L., Collins, L. C., Cummings, S. R., Kerlikowske, K. & Vachon, C. M., Jul 1 2018, In: Breast Cancer Research and Treatment. 170, 1, p. 129-141 13 p.

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1

    Singh, N., Basnet, H., Wiltshire, T. D., Mohammad, D. H., Thompson, J. R., Héroux, A., Botuyan, M. V., Yaffe, M. B., Couch, F. J., Rosenfeld, M. G. & Mer, G., Sep 4 2012, In: Proceedings of the National Academy of Sciences of the United States of America. 109, 36, p. 14381-14386 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    44 Scopus citations
  • Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers

    Gronwald, J., Robidoux, A., Kim-Sing, C., Tung, N., Lynch, H. T., Foulkes, W. D., Manoukian, S., Ainsworth, P., Neuhausen, S. L., Demsky, R., Eisen, A., Singer, C. F., Saal, H., Senter, L., Eng, C., Weitzel, J., Moller, P., Gilchrist, D. M., Olopade, O., Ginsburg, O., & 53 othersSun, P., Huzarski, T., Lubinski, J., Narod, S. A., Euhus, D., Garber, J., Rennert, G., Sweet, K., Gershoni-Baruch, R., Rappaport, C., Lemire, E., Maehle, L., Stoppa-Lyonnet, D., Daly, M., Merajver, S., Kwong, A., Bordeleau, L., Cullinane, C. A., Friedman, E., McKinnon, W., Wood, M., Rayson, D., Meschino, W., McLennan, J., Costalas, J. W., Reilly, R. E., Pal, T., Vadaparampil, S., Offit, K., Robson, M., Kauff, N., Klijn, J., Isaacs, C., Couch, F., Cybulski, C., Byrski, T., Jakubowska, A., Panchal, S., Nanda, S., Poll, A., Metcalfe, K., Rosen, B., Armel, S. R., Chudley, A., Evans, G., Blum, J., Karlan, B., Zakalik, D., Lunn, J., Donenberg, T., Pasini, B., Kurz, R. N. & Fallen, T., Jul 2014, In: Breast Cancer Research and Treatment. 146, 2, p. 421-427 7 p.

    Research output: Contribution to journalArticlepeer-review

    22 Scopus citations
  • E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium

    Horne, H. N., Oh, H., Sherman, M. E., Palakal, M., Hewitt, S. M., Schmidt, M. K., Milne, R. L., Hardisson, D., Benitez, J., Blomqvist, C., Bolla, M. K., Brenner, H., Chang-Claude, J., Cora, R., Couch, F. J., Cuk, K., Devilee, P., Easton, D. F., Eccles, D. M., Eilber, U., & 32 othersHartikainen, J. M., Heikkilä, P., Holleczek, B., Hooning, M. J., Jones, M., Keeman, R., Mannermaa, A., Martens, J. W. M., Muranen, T. A., Nevanlinna, H., Olson, J. E., Orr, N., Perez, J. I. A., Pharoah, P. D. P., Ruddy, K. J., Saum, K. U., Schoemaker, M. J., Seynaeve, C., Sironen, R., Smit, V. T. H. B. M., Swerdlow, A. J., Tengström, M., Thomas, A. S., Timmermans, A. M., Tollenaar, R. A. E. M., Troester, M. A., Van Asperen, C. J., Van Deurzen, C. H. M., Van Leeuwen, F. F., Van'T Veer, L. J., García-Closas, M. & Figueroa, J. D., Dec 1 2018, In: Scientific reports. 8, 1, 6574.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    16 Scopus citations
  • ECPPF (E2F1, CCNA2, POLE, PPP2R1A, FBXW7) stratification: Profiling high-risk subtypes of histomorphologically low-risk and treatment-insensitive endometrioid endometrial cancer

    Gonzalez-Bosquet, J., John Weroha, S., Bakkum-Gamez, J. N., Weaver, A. L., McGree, M. E., Dowdy, S. C., Famuyide, A. O., Kipp, B. R., Halling, K. C., Yadav, S., Couch, F. J. & Podratz, K. C., Dec 2022, In: PloS one. 17, 12 December, e0278408.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Effect of germline mutations in homologous recombination repair genes on overall survival of patients with pancreatic adenocarcinoma

    Yadav, S., Kasi, P. M., Bamlet, W. R., Ho, T. P., Polley, E. C., Hu, C., Hart, S. N., Rabe, K. G., Boddicker, N. J., Gnanaolivu, R. D., Lee, K. Y., Lindstrom, T. H., Petersen, G. M., Couch, F. J. & McWilliams, R. R., Dec 2020, In: Clinical Cancer Research. 26, 24, p. 6505-6512 8 p.

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers

    Cullinane, C. A., Lubinski, J., Neuhausen, S. L., Ghadirian, P., Lynch, H. T., Isaacs, C., Weber, B., Moller, P., Offit, K., Kim-Sing, C., Friedman, E., Randall, S., Pasini, B., Ainsworth, P., Gershoni-Baruch, R., Foulkes, W. D., Klijn, J., Tung, N., Rennert, G., Olopade, O., & 6 othersCouch, F., Wagner, T., Olsson, H., Sun, P., Weitzel, J. N. & Narod, S. A., Dec 20 2005, In: International Journal of Cancer. 117, 6, p. 988-991 4 p.

    Research output: Contribution to journalArticlepeer-review

    135 Scopus citations
  • Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

    Maia, A. T., Antoniou, A. C., O'Reilly, M., Samarajiwa, S., Dunning, M., Kartsonaki, C., Chin, S. F., Curtis, C. N., McGuffog, L., Domchek, S. M., Easton, D. F., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Eccles, D., Sinilnikova, O. M., Mazoyer, S., & 16 othersStoppa-Lyonnet, D., Gauthier-Villars, M., Faivre, L., Venat-Bouvet, L., Delnatte, C., Nevanlinna, H., Couch, F. J., Godwin, A. K., Caligo, M. A., Barkardottir, R. B., Chen, X., Beesley, J., Healey, S., Caldas, C., Chenevix-Trench, G. & Ponder, B. A. J., Apr 18 2012, In: Breast Cancer Research. 14, 2, R63.

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers

    Hartmann, L. C., Sellers, T. A., Schaid, D. J., Frank, T. S., Soderberg, C. L., Sitta, D. L., Frost, M. H., Grant, C. S., Donohue, J. H., Woods, J. E., McDonnell, S. K., Vockley, C. W., Deffenbaugh, A., Couch, F. J. & Jenkins, R. B., Nov 7 2001, In: Journal of the National Cancer Institute. 93, 21, p. 1633-1637 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    610 Scopus citations
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