Fergus J Couch

Fergus J Couch, PhD

Chair, Division of Experimental Pathology

1991 …2022

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  • 2016

    Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers

    Sung, H., Garcia-Closas, M., Chang-Claude, J., Blows, F. M., Ali, H. R., Figueroa, J., Nevanlinna, H., Fagerholm, R., Heikkilä, P., Blomqvist, C., Giles, G. G., Milne, R. L., Southey, M. C., McLean, C., Mannermaa, A., Kosma, V. M., Kataja, V., Sironen, R., Couch, F. J., Olson, J. E., & 16 othersHallberg, E., Olswold, C., Cox, A., Cross, S. S., Kraft, P., Tamimi, R. M., Eliassen, A. H., Schmidt, M. K., Bolla, M. K., Wang, Q., Easton, D., Howat, W. J., Coulson, P., Pharoah, P. D. P., Sherman, M. E. & Yang, X. R., Feb 2 2016, In: British journal of cancer. 114, 3, p. 298-304 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium

    Abubakar, M., Howat, W. J., Daley, F., Zabaglo, L., McDuffus, L. A., Blows, F., Coulson, P., Raza Ali, H., Benitez, J., Milne, R., Brenner, H., Stegmaier, C., Mannermaa, A., Chang-Claude, J., Rudolph, A., Sinn, P., Couch, F. J., Tollenaar, R. A. E. M., Devilee, P., Figueroa, J., & 23 othersSherman, M. E., Lissowska, J., Hewitt, S., Eccles, D., Hooning, M. J., Hollestelle, A., Martens, J., HM van Deurzen, C., Investigators, K. C. F., Bolla, M. K., Wang, Q., Jones, M., Schoemaker, M., Broeks, A., van Leeuwen, F. E., Van't Veer, L., Swerdlow, A. J., Orr, N., Dowsett, M., Easton, D., Schmidt, M. K., Pharoah, P. D. & Garcia-Closas, M., Jul 1 2016, In: Journal of Pathology: Clinical Research. 2, 3, p. 138-153 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    14 Scopus citations
  • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

    Couch, F. J., Kuchenbaecker, K. B., Michailidou, K., Mendoza-Fandino, G. A., Nord, S., Lilyquist, J., Olswold, C., Hallberg, E., Agata, S., Ahsan, H., Aittomäki, K., Ambrosone, C., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Barile, M., Barkardottir, R. B., Barrowdale, D., & 229 othersBeckmann, L., Beckmann, M. W., Benitez, J., Blank, S. V., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldes, T., Caligo, M. A., Canzian, F., Carpenter, J., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., De La Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Dos-Santos-Silva, I., Dumont, M., Dunning, A. M., Eccles, D. M., Ehrencrona, H., Ekici, A. B., Eliassen, H., Ellis, S., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Försti, A., Fostira, F., Foulkes, W. D., Friebel, T., Friedman, E., Frost, D., Gabrielson, M., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Gaudet, M. M., Gayther, S. A., Gerdes, A. M., Ghoussaini, M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Gunter, M., Haeberle, L., Haiman, C. A., Hamann, U., Hansen, T. V. O., Hart, S., Healey, S., Heikkinen, T., Henderson, B. E., Herzog, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Humphreys, K., Hunter, D. J., Huzarski, T., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Jones, M., Kabisch, M., Kar, S., Karlan, B. Y., Khan, S., Khaw, K. T., Kibriya, M. G., Knight, J. A., Ko, Y. D., Konstantopoulou, I., Kosma, V. M., Kristensen, V., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Lee, E., Le Marchand, L., Lester, J., Lindblom, A., Lindor, N., Lindstrom, S., Liu, J., Long, J., Lubinski, J., Mai, P. L., Makalic, E., Malone, K. E., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Martens, J. W. M., Mcguffog, L., Meindl, A., Miller, A., Milne, R. L., Miron, P., Montagna, M., Mazoyer, S., Mulligan, A. M., Muranen, T. A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Osorio, A., Park, S. K., Peeters, P. H., Peissel, B., Peterlongo, P., Peto, J., Phelan, C. M., Pilarski, R., Poppe, B., Pylkäs, K., Radice, P., Rahman, N., Rantala, J., Rappaport, C., Rennert, G., Richardson, A., Robson, M., Romieu, I., Rudolph, A., Rutgers, E. J., Sanchez, M. J., Santella, R. M., Sawyer, E. J., Schmidt, D. F., Schmidt, M. K., Schmutzler, R. K., Schumacher, F., Scott, R., Senter, L., Sharma, P., Simard, J., Singer, C. F., Sinilnikova, O. M., Soucy, P., Southey, M., Steinemann, D., Stenmark-Askmalm, M., Stoppa-Lyonnet, D., Swerdlow, A., Szabo, C. I., Tamimi, R., Tapper, W., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Thompson, D., Tihomirova, L., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I., Truong, T., Tsimiklis, H., Teulé, A., Tumino, R., Tung, N., Turnbull, C., Ursin, G., Van Deurzen, C. H. M., Van Rensburg, E. J., Varon-Mateeva, R., Wang, Z., Wang-Gohrke, S., Weiderpass, E., Weitzel, J. N., Whittemore, A., Wildiers, H., Winqvist, R., Yang, X. R., Yannoukakos, D., Yao, S., Zamora, M. P., Zheng, W., Hall, P., Kraft, P., Vachon, C., Slager, S., Chenevix-Trench, G., Pharoah, P. D. P., Monteiro, A. A. N., García-Closas, M., Easton, D. F. & Antoniou, A. C., Apr 27 2016, In: Nature communications. 7, 11375.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    55 Scopus citations
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

    on behalf of HEBON, on behalf of KConFab, AOCS Investigators, on behalf of EMBRACE & behalf of GEMO Study Collaborators, Jun 21 2016, In: Breast Cancer Research. 18, 1, 64.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    18 Scopus citations
  • Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer

    Chiba, A., Hoskin, T. L., Hallberg, E. J., Cogswell, J. A., Heins, C. N., Couch, F. J. & Boughey, J. C., Oct 1 2016, In: Annals of surgical oncology. 23, 10, p. 3232-3238 7 p.

    Research output: Contribution to journalArticlepeer-review

    24 Scopus citations
  • Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

    HEBON & KConFab investigators, Nov 11 2016, In: Breast Cancer Research. 18, 1, 112.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 Scopus citations
  • Integrated genomic analysis of pancreatic ductal adenocarcinomas reveals genomic rearrangement events as significant drivers of disease

    Murphy, S. J., Hart, S. N., Halling, G. C., Johnson, S. H., Smadbeck, J. B., Drucker, T., Lima, J. F., Rohakhtar, F. R., Harris, F. R., Kosari, F., Subramanian, S., Petersen, G. M., Wiltshire, T. D., Kipp, B. R., Truty, M. J., McWilliams, R. R., Couch, F. J. & Vasmatzis, G., Feb 1 2016, In: Cancer research. 76, 3, p. 749-761 13 p.

    Research output: Contribution to journalArticlepeer-review

    20 Scopus citations
  • Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

    Silvestri, V., Barrowdale, D., Mulligan, A. M., Neuhausen, S. L., Fox, S., Karlan, B. Y., Mitchell, G., James, P., Thull, D. L., Zorn, K. K., Carter, N. J., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Ramus, S. J., Nussbaum, R. L., Olopade, O. I., Rantala, J., Yoon, S. Y., Caligo, M. A., & 126 othersSpugnesi, L., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Toland, A. E., Senter, L., Andrulis, I. L., Glendon, G., Hulick, P. J., Imyanitov, E. N., Greene, M. H., Mai, P. L., Singer, C. F., Rappaport-Fuerhauser, C., Kramer, G., Vijai, J., Offit, K., Robson, M., Lincoln, A., Jacobs, L., Machackova, E., Foretova, L., Navratilova, M., Vasickova, P., Couch, F. J., Hallberg, E., Ruddy, K. J., Sharma, P., Kim, S. W., Teixeira, M. R., Pinto, P., Montagna, M., Matricardi, L., Arason, A., Johannsson, O. T., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Izquierdo, A., Pujana, M. A., Balmaña, J., Diez, O., Ivady, G., Papp, J., Olah, E., Kwong, A., Nevanlinna, H., Aittomäki, K., Perez Segura, P., Caldes, T., Van Maerken, T., Poppe, B., Claes, K. B. M., Isaacs, C., Elan, C., Lasset, C., Stoppa-Lyonnet, D., Barjhoux, L., Belotti, M., Meindl, A., Gehrig, A., Sutter, C., Engel, C., Niederacher, D., Steinemann, D., Hahnen, E., Kast, K., Arnold, N., Varon-Mateeva, R., Wand, D., Godwin, A. K., Evans, D. G., Frost, D., Perkins, J., Adlard, J., Izatt, L., Platte, R., Eeles, R., Ellis, S., Hamann, U., Garber, J., Fostira, F., Fountzilas, G., Pasini, B., Giannini, G., Rizzolo, P., Russo, A., Cortesi, L., Papi, L., Varesco, L., Palli, D., Zanna, I., Savarese, A., Radice, P., Manoukian, S., Peissel, B., Barile, M., Bonanni, B., Viel, A., Pensotti, V., Tommasi, S., Peterlongo, P., Weitzel, J. N., Osorio, A., Benitez, J., McGuffog, L., Healey, S., Gerdes, A. M., Ejlertsen, B., Hansen, T. V. O., Steele, L., Ding, Y. C., Tung, N., Janavicius, R., Goldgar, D. E., Buys, S. S., Daly, M. B., Bane, A., Terry, M. B., John, E. M., Southey, M., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Ottini, L., Feb 9 2016, In: Breast Cancer Research. 18, 1, 15.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    46 Scopus citations
  • Mammographic texture and risk of breast cancer by tumor type and estrogen receptor status

    Malkov, S., Shepherd, J. A., Scott, C. G., Tamimi, R. M., Ma, L., Bertrand, K. A., Couch, F., Jensen, M. R., Mahmoudzadeh, A. P., Fan, B., Norman, A., Brandt, K. R., Pankratz, V. S., Vachon, C. M. & Kerlikowske, K., Dec 6 2016, In: Breast Cancer Research. 18, 1, 122.

    Research output: Contribution to journalArticlepeer-review

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

    Australian Ovarian Cancer Study Group, KConFab investigators, Lifepool Investigators & NBCS Investigators, Feb 26 2016, In: Journal of medical genetics. 53, 5, p. 298-309 12 p.

    Research output: Contribution to journalArticlepeer-review

    68 Scopus citations
  • Novel patient-derived xenograft mouse model for pancreatic acinar cell carcinoma demonstrates single agent activity of oxaliplatin

    Hall, J. C., Marlow, L. A., Mathias, A. C., Dawson, L. K., Durham, W. F., Meshaw, K. A., Mullin, R. J., Synnott, A. J., Small, D. L., Krishna, M., Hoff, D., Schüler, J., Hart, S. N., Couch, F. J., Colon-Otero, G. & Copland, J. A., May 10 2016, In: Journal of Translational Medicine. 14, 1, 129.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

    kConFab Investigators66 & Australian Ovarian Cancer Study Group65,66, Dec 1 2016, In: Journal of medical genetics. 53, 12, p. 800-811 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    106 Scopus citations
  • Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium

    Muranen, T. A., Blomqvist, C., Dörk, T., Jakubowska, A., Heikkilä, P., Fagerholm, R., Greco, D., Aittomäki, K., Bojesen, S. E., Shah, M., Dunning, A. M., Rhenius, V., Hall, P., Czene, K., Brand, J. S., Darabi, H., Chang-Claude, J., Rudolph, A., Nordestgaard, B. G., Couch, F. J., & 24 othersHart, S. N., Figueroa, J., García-Closas, M., Fasching, P. A., Beckmann, M. W., Li, J., Liu, J., Andrulis, I. L., Winqvist, R., Pylkäs, K., Mannermaa, A., Kataja, V., Lindblom, A., Margolin, S., Lubinski, J., Dubrowinskaja, N., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Easton, D. F., Pharoah, P. D. P., Schmidt, M. K. & Nevanlinna, H., Oct 3 2016, In: Breast Cancer Research. 18, 1, 98.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Scopus citations
  • Prevalence of pathogenic mutations in cancer predisposition genes among pancreatic cancer patients

    Hu, C., Hart, S. N., Bamlet, W. R., Moore, R. M., Nandakumar, K., Eckloff, B. W., Lee, Y. K., Petersen, G. M., McWilliams, R. R. & Couch, F. J., Jan 2016, In: Cancer Epidemiology Biomarkers and Prevention. 25, 1, p. 207-211 5 p.

    Research output: Contribution to journalArticlepeer-review

    78 Scopus citations
  • Prognostic value of automated KI67 scoring in breast cancer: A centralised evaluation of 8088 patients from 10 study groups

    Abubakar, M., Orr, N., Daley, F., Coulson, P., Ali, H. R., Blows, F., Benitez, J., Milne, R., Brenner, H., Stegmaier, C., Mannermaa, A., Chang-Claude, J., Rudolph, A., Sinn, P., Couch, F. J., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Figueroa, J., Sherman, M. E., & 21 othersLissowska, J., Hewitt, S., Eccles, D., Hooning, M. J., Hollestelle, A., Martens, J. W. M., Deurzen, C. H. M., Investigators, K. C. F., Bolla, M. K., Wang, Q., Jones, M., Schoemaker, M., Wesseling, J., van Leeuwen, F. E., Van 't Veer, L., Easton, D., Swerdlow, A. J., Dowsett, M., Pharoah, P. D., Schmidt, M. K. & Garcia-Closas, M., Oct 18 2016, In: Breast Cancer Research. 18, 1, 104.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    40 Scopus citations
  • RAD51B in familial breast cancer

    kConFab/AOCS Investigators, 2016, In: PloS one. 11, 5, e0153788.

    Research output: Contribution to journalArticlepeer-review

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

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

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation

    Gronwald, J., Glass, K., Rosen, B., Karlan, B., Tung, N., Neuhausen, S. L., Moller, P., Ainsworth, P., Sun, P., Narod, S. A., Lubinski, J., Kotsopoulos, J., Lynch, H. T., Cybulski, C., Kim-Sing, C., Friedman, S., Senter, L., Weitzel, J., Singer, C., Eng, C., & 60 othersMitchell, G., Huzarski, T., McCuaig, J., Eisen, A., Gilchrist, D., Blum, J. L., Zakalik, D., Pal, T., Daly, M., Weber, B., Snyder, C., Fallen, T., Chudley, A., Lunn, J., Donenberg, T., Kurz, R. N., Saal, H., Garber, J., Rennert, G., Sweet, K., Rappaport, C., Lemire, E., Stoppa-Lyonnet, D., Olopade, O. I., Merajver, S., Bordeleau, L., Cullinane, C. A., Friedman, E., McKinnon, W., Wood, M., Rayson, D., Meschino, W., Costalas, J. W., Reilly, R. E., Vadaparampil, S., Offit, K., Kauff, N., Euhus, D., Kwong, A., Isaacs, C., Couch, F., Manoukian, S., Byrski, T., Elser, C., Panchal, S., Armel, S., Demsky, R., Nanda, S., Metcalfe, K., Poll, A., Foulkes, W. D., Robidoux, A., Warner, E., Maehle, L., Evans, G., Pasini, B., Ginsburg, O., Cohen, S., Jakubowska, A. & Little, J., Mar 1 2016, In: Fertility and sterility. 105, 3, p. 781-785 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    24 Scopus citations
  • 2015

    A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density

    Rudolph, A., Fasching, P. A., Behrens, S., Eilber, U., Bolla, M. K., Wang, Q., Thompson, D., Czene, K., Brand, J. S., Li, J., Scott, C., Pankratz, V. S., Brandt, K., Hallberg, E., Olson, J. E., Lee, A., Beckmann, M. W., Ekici, A. B., Haeberle, L., Maskarinec, G., & 20 othersLe Marchand, L., Schumacher, F., Milne, R. L., Knight, J. A., Apicella, C., Southey, M. C., Kapuscinski, M. K., Hopper, J. L., Andrulis, I. L., Giles, G. G., Haiman, C. A., Khaw, K. T., Luben, R., Hall, P., Pharoah, P. D. P., Couch, F. J., Easton, D. F., dos-Santos-Silva, I., Vachon, C. & Chang-Claude, J., Aug 16 2015, In: Breast Cancer Research. 17, 1, 110.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Scopus citations
  • Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

    kConFab/AOCS Investigators, Jul 2 2015, In: BMC Medicine. 13, 1, 156.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    33 Scopus citations
  • An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

    GEMO Study Collaborators & HEBON, Apr 25 2015, In: Breast Cancer Research. 17, 1, 61.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 Scopus citations
  • A polygenic risk score for breast cancer in women receiving tamoxifen or raloxifene on NSABP P-1 and P-2

    Vachon, C. M., Schaid, D. J., Ingle, J. N., Wickerham, D. L., Kubo, M., Mushiroda, T., Goetz, M. P., Carlson, E. E., Paik, S., Wolmark, N., Nakamura, Y., Wang, L., Weinshilboum, R. & Couch, F. J., Jan 2015, In: Breast Cancer Research and Treatment. 149, 2, p. 517-523 7 p.

    Research output: Contribution to journalArticlepeer-review

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

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

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: A mixed methods study

    Scherr, C. L., Lindor, N. M., Malo, T. L., Couch, F. J. & Vadaparampil, S. T., Sep 2 2015, In: Genetics in Medicine. 17, 9, p. 739-746 8 p.

    Research output: Contribution to journalArticlepeer-review

    18 Scopus citations
  • Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

    Blanco, I., Kuchenbaecker, K., Cuadras, D., Wang, X., Barrowdale, D., De Garibay, G. R., Librado, P., Sánchez-Gracia, A., Rozas, J., Bonifaci, N., McGuffog, L., Pankratz, V. S., Islam, A., Mateo, F., Berenguer, A., Petit, A., Català, I., Brunet, J., Feliubadaló, L., Tornero, E., & 176 othersBenítez, J., Osorio, A., Teresa, R., Teresa, C., Nevanlinna, H., Aittomäki, K., Arun, B. K., Toland, A. E., Karlan, B. Y., Walsh, C., Lester, J., Greene, M. H., Mai, P. L., Nussbaum, R. L., Andrulis, I. L., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Claes, K., Van Maerken, T., Díez, O., Hansen, T. V., Jønson, L., Gerdes, A. M., Ejlertsen, B., De La Hoya, M., Caldés, T., Dunning, A. M., Oliver, C., Fineberg, E., Cook, M., Peock, S., McCann, E., Murray, A., Jacobs, C., Pichert, G., Lalloo, F., Chu, C., Dorkins, H., Paterson, J., Ong, K. R., Teixeira, M. R., Teixeira, T., Hogervorst, F. B. L., Van Der Hout, A. H., Seynaeve, C., Van Der Luijt, R. B., Ligtenberg, M. J. L., Devilee, P., Wijnen, J. T., Rookus, M. A., Meijers-Heijboer, H. E. J., Blok, M. J., Van Den Ouweland, A. M. W., Aalfs, C. M., Rodriguez, G. C., Phillips, K. A. A., Piedmonte, M., Nerenstone, S. R., Bae-Jump, V. L., O'Malley, D. M., Ratner, E. S., 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., Bojesen, A., Pedersen, I. S., Sunde, L., Jensen, U. B., Thomassen, M., Kruse, T. A., Foretova, L., Peterlongo, P., Bernard, L., Peissel, B., Scuvera, G., Manoukian, S., Radice, P., Ottini, L., Montagna, M., Agata, S., Maugard, C., Simard, J., Soucy, P., Berger, A., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler-Kaulich, D., Tea, M. K., Pfeiler, G., John, E. M., Miron, A., Neuhausen, S. L., Terry, M. B., Chung, W. K., Daly, M. B., Goldgar, D. E., Janavicius, R., Dorfling, C. M., Van Rensburg, E. J., Fostira, F., Konstantopoulou, I., Garber, J., Godwin, A. K., Olah, E., Narod, S. A., Rennert, G., Paluch, S. S., Laitman, Y., Friedman, E., Liljegren, A., Rantala, J., Stenmark-Askmalm, M., Loman, N., Imyanitov, E. N., Hamann, U., Spurdle, A. B., Healey, S., Weitzel, J. N., Herzog, J., Margileth, D., Gorrini, C., Esteller, M., Gómez, A., Sayols, S., Vidal, E., Heyn, H., Stoppa-Lyonnet, D., Léoné, M., Barjhoux, L., Fassy-Colcombet, M., De Pauw, A., Lasset, C., Ferrer, S. F., Castera, L., Berthet, P., Cornelis, F., Bignon, Y. J., Damiola, F., Mazoyer, S., Sinilnikova, O. M., Maxwell, C. A., Vijai, J., Robson, M., Kauff, N., Corines, M. J., Villano, D., Cunningham, J., Lee, A., Lindor, N., Lázaro, C., Easton, D. F., Offit, K., Chenevix-Trench, G., Couch, F. J., Antoniou, A. C. & Pujana, M. A., Apr 1 2015, In: PloS one. 10, 4, 120020.

    Research output: Contribution to journalArticlepeer-review

    18 Scopus citations
  • 17 Scopus citations
  • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

    the Cimba Consortium, Apr 7 2015, In: JAMA - Journal of the American Medical Association. 313, 13, p. 1347-1361 15 p.

    Research output: Contribution to journalArticlepeer-review

    245 Scopus citations
  • BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

    on behalf of the ENIGMA Clinical Working Group, Oct 2015, In: Annals of Oncology. 26, 10, p. 2057-2065 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    110 Scopus citations
  • BRCA1 Circos: A visualisation resource for functional analysis of missense variants

    on behalf of the ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) Consortium, 2015, In: Journal of medical genetics. 52, 4, p. 224-230 7 p.

    Research output: Contribution to journalArticlepeer-review

    24 Scopus citations
  • Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

    On Behalf Of Gemo Study Collaborators, Jan 1 2015, In: Cancer Epidemiology Biomarkers and Prevention. 24, 1, p. 308-316 9 p.

    Research output: Contribution to journalArticlepeer-review

    16 Scopus citations
  • Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

    Carvajal-Carmona, L. G., O’Mara, T. A., Painter, J. N., Lose, F. A., Dennis, J., Michailidou, K., Tyrer, J. P., Ahmed, S., Ferguson, K., Healey, C. S., Pooley, K., Beesley, J., Cheng, T., Jones, A., Howarth, K., Martin, L., Gorman, M., Hodgson, S., National Study of Endometrial Cancer Genetics Group (NSECG), S. O. E. C. G. G., The Australian National Endometrial Cancer Study Group (ANECS), A. N. E. C. S. G., & 74 othersWentzensen, N., Fasching, P. A., Hein, A., Beckmann, M. W., Renner, S. P., Dörk, T., Hillemanns, P., Dürst, M., Runnebaum, I., Lambrechts, D., Coenegrachts, L., Schrauwen, S., Amant, F., Winterhoff, B., Dowdy, S. C., Goode, E. L., Teoman, A., Salvesen, H. B., Trovik, J., Njolstad, T. S., Werner, H. M. J., Scott, R. J., Ashton, K., Proietto, T., Otton, G., Wersäll, O., Mints, M., Tham, E., RENDOCAS, Hall, P., Czene, K., Liu, J., Li, J., Hopper, J. L., Southey, M. C., Australian Ovarian Cancer Study (AOCS), O. C. S., Ekici, A. B., Ruebner, M., Johnson, N., Peto, J., Burwinkel, B., Marme, F., Brenner, H., Dieffenbach, A. K., Meindl, A., Brauch, H., The GENICA Network, GENICA. N., Lindblom, A., Depreeuw, J., Moisse, M., Chang-Claude, J., Rudolph, A., Couch, F. J., Olson, J. E., Giles, G. G., Bruinsma, F., Cunningham, J. M., Fridley, B. L., Børresen-Dale, A. L., Kristensen, V. N., Cox, A., Swerdlow, A. J., Orr, N., Bolla, M. K., Wang, Q., Weber, R. P., Chen, Z., Shah, M., Pharoah, P. D. P., Dunning, A. M., Tomlinson, I., Easton, D. F., Spurdle, A. B. & Thompson, D. J., Jan 13 2015, In: Human genetics. 134, 2, p. 231-245 15 p.

    Research output: Contribution to journalArticlepeer-review

    23 Scopus citations
  • Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

    The Consortium of Investigators of Modifiers of BRCA1/2 & The Ovarian Cancer Association Consortium, Jul 1 2015, In: Human molecular genetics. 24, 13, p. 3595-3607 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    23 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
  • 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
  • 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
  • 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
  • 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

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

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

    Research output: Contribution to journalArticlepeer-review

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

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

    Research output: Contribution to journalArticlepeer-review

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

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

    Research output: Contribution to journalArticlepeer-review

    333 Scopus citations
  • Height and breast cancer risk: Evidence from prospective studies and mendelian randomization

    Zhang, B., Shu, X. O., Delahanty, R. J., Zeng, C., Michailidou, K., Bolla, M. K., Wang, Q., Dennis, J., Wen, W., Long, J., Li, C., Dunning, A. M., Chang-Claude, J., Shah, M., Perkins, B. J., Czene, K., Darabi, H., Eriksson, M., Bojesen, S. E., Nordestgaard, B. G., & 151 othersNielsen, S. F., Flyger, H., Lambrechts, D., Neven, P., Wildiers, H., Floris, G., Schmidt, M. K., Rookus, M. A., Van Den Hurk, K., De Kort, W. L. A. M., Couch, F. J., Olson, J. E., Hallberg, E., Vachon, C., Rudolph, A., Seibold, P., Flesch-Janys, D., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Li, J., Humphreys, K., Brand, J., Guénel, P., Truong, T., Cordina-Duverger, E., Menegaux, F., Burwinkel, B., Marme, F., Yang, R., Surowy, H., Benitez, J., Zamora, M. P., Perez, J. I. A., 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., Chenevix-Trench, G., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Lindblom, A., Margolin, S., Hooning, M. J., Martens, J. W. M., Tilanus-Linthorst, M. M. A., Collée, J. M., Hopper, J. L., Southey, M. C., Tsimiklis, H., Apicella, C., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Giles, G. G., Milne, R. L., McLean, C., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Swerdlow, A. J., Ashworth, A., Orr, N., Jones, M., Figueroa, J., Garcia-Closas, M., Brinton, L., Lissowska, J., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Brauch, H., Brüning, T., Ko, Y. D., Peterlongo, P., Manoukian, S., Bonanni, B., Radice, P., Bogdanova, N., Antonenkova, N., Dörk, T., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Devilee, P., Seynaeve, C., Van Asperen, C. J., Jakubowska, A., Lubiski, J., Jaworska-Bieniek, K., Durda, K., Hamann, U., Torres, D., Schmutzler, R. K., Neuhausen, S. L., Anton-Culver, H., Kristensen, V. N., Grenaker Alnæs, G. I., Pierce, B. L., Kraft, P., Peters, U., Lindstrom, S., Seminara, D., Burgess, S., Ahsan, H., Whittemore, A. S., John, E. M., Gammon, M. D., Malone, K. E., Tessier, D. C., Vincent, D., Bacot, F., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C. S., González-Neira, A., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Pharoah, P. D. P., Simard, J., Hall, P., Hunter, D. J., Easton, D. F. & Zheng, W., Nov 2015, In: Journal of the National Cancer Institute. 107, 11

    Research output: Contribution to journalArticlepeer-review

    Open Access
    70 Scopus citations
  • Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

    The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, KConFab investigators, Australian Ovarian Cancer Study Group, The Breast and Ovarian Cancer Susceptibility (BOCS) Study, Australian Ovarian Cancer Study Group & The GENICA Network, Jan 1 2015, In: Human molecular genetics. 24, 1, p. 285-298 14 p.

    Research output: Contribution to journalArticlepeer-review

    31 Scopus citations
  • Identification of novel genetic markers of breast cancer survival

    Guo, Q., Schmidt, M. K., Kraft, P., Canisius, S., Chen, C., Khan, S., Tyrer, J., Bolla, M. K., Wang, Q., Dennis, J., Michailidou, K., Lush, M., Kar, S., Beesley, J., Dunning, A. M., Shah, M., Czene, K., Darabi, H., Eriksson, M., Lambrechts, D., & 126 othersWeltens, C., Leunen, K., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Blomqvist, C., Aittomäki, K., Fagerholm, R., Muranen, T. A., Couch, F. J., Olson, J. E., Vachon, C., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Broeks, A., Hogervorst, F. B., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Hopper, J. L., Tsimiklis, H., Apicella, C., Southey, M. C., Cox, A., 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., Dieffenbach, A. K., Arndt, V., Holleczek, B., Mannermaa, A., 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., Bonanni, B., Mariani, P., Fasching, P. A., Beckmann, M. W., Hein, A., Ekici, A. B., Chenevix-Trench, G., Balleine, R., Phillips, K. A., Benitez, J., Zamora, M. P., Arias Perez, J. I., Menéndez, P., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Hamann, U., Kabisch, M., Ulmer, H. U., Rüdiger, T., Margolin, S., Kristensen, V., Nord, S., Evans, D. G., Abraham, J. E., Earl, H. M., Hiller, L., Dunn, J. A., Bowden, S., Berg, C., Campa, D., Diver, W. R., Gapstur, S. M., Gaudet, M. M., Hankinson, S. E., 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., García-Closas, M., Hall, P., Easton, D. F., Eccles, D. M., Rahman, N., Nevanlinna, H. & Pharoah, P. D. P., May 1 2015, In: Journal of the National Cancer Institute. 107, 5

    Research output: Contribution to journalArticlepeer-review

    35 Scopus citations
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer

    EMBRACE, GEMO Study Collaborators, Breast cancer Family Registry, HEBON, KConFab investigators, Australian cancer study (ovarian cancer Investigators), Australian Ovarian Cancer Study Group & consortium of Investigators of modifiers of BRCA1 and BRCA2, Jan 1 2015, In: Nature Genetics. 47, 2, p. 164-171 8 p.

    Research output: Contribution to journalArticlepeer-review

    155 Scopus citations
  • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

    Couch, F. J., Hart, S. N., Sharma, P., Toland, A. E., Wang, X., Miron, P., Olson, J. E., Godwin, A. K., Pankratz, V. S., Olswold, C., Slettedahl, S., Hallberg, E., Guidugli, L., Davila, J., Beckmann, M. W., Janni, W., Rack, B., Ekici, A. B., Slamon, D. J., Konstantopoulou, I., & 21 othersFostira, F., Vratimos, A., Fountzilas, G., Pelttari, L. M., Tapper, W. J., Durcan, L., Cross, S. S., Pilarski, R., Shapiro, C. L., Klemp, J., Yao, S., Garber, J., Cox, A., Brauch, H., Ambrosone, C., Nevanlinna, H., Yannoukakos, D., Slager, S. L., Vachon, C. M., Eccles, D. M. & Fasching, P. A., Feb 1 2015, In: Journal of Clinical Oncology. 33, 4, p. 304-311 8 p.

    Research output: Contribution to journalArticlepeer-review

    370 Scopus citations
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