Fergus J Couch

Fergus J Couch, PhD

Chair, Division of Experimental Pathology

1991 …2023

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  • Article

    BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

    kConFab/AOCS Investigators & NBCS Collaborators, Jun 1 2017, In: Cancer research. 77, 11, p. 2789-2799 11 p.

    Research output: Contribution to journalArticlepeer-review

    37 Scopus citations
  • BRCA2 Localization to the Midbody by Filamin A Regulates CEP55 Signaling and Completion of Cytokinesis

    Mondal, G., Rowley, M., Guidugli, L., Wu, J., Pankratz, V. S. & Couch, F. J., Jul 17 2012, In: Developmental Cell. 23, 1, p. 137-152 16 p.

    Research output: Contribution to journalArticlepeer-review

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

    Australia Ovarian Cancer Study Group, EMBRACE, OCGN, PRostate cancer Asso Ciation group To Investigate Cancer Associated aLterations in the genome, GEMO Study Collaborators & HEBON, Feb 1 2016, In: Journal of the National Cancer Institute. 108, 2

    Research output: Contribution to journalArticlepeer-review

    Open Access
    56 Scopus citations
  • BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

    BRCA Challenge Authors, Dec 2018, In: PLoS genetics. 14, 12, e1007752.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    56 Scopus citations
  • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers

    Finkelman, B. S., Rubinstein, W. S., Friedman, S., Friebel, T. M., Dubitsky, S., Schonberger, N. S., Shoretz, R., Singer, C. F., Blum, J. L., Tung, N., Olopade, O. I., Weitzel, J. N., Lynch, H. T., Snyder, C., Garber, J. E., Schildkraut, J., Daly, M. B., Isaacs, C., Pichert, G., Neuhausen, S. L., & 11 othersCouch, F. J., Van't Veer, L., Eeles, R., Bancroft, E., Evans, D. G., Ganz, P. A., Tomlinson, G. E., Narod, S. A., Matloff, E., Domchek, S. & Rebbeck, T. R., Apr 20 2012, In: Journal of Clinical Oncology. 30, 12, p. 1321-1328 8 p.

    Research output: Contribution to journalArticlepeer-review

    25 Scopus citations
  • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

    Barnes, D. R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomaki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Belotti, M., & 144 othersBenitez, J., Berthet, P., Boonen, S. E., Borg, A., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldes, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., De La Hoya, M., De Leeneer, K., De Putter, R., Del Valle, J., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Evans, D. G., Feliubadalo, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernandez, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A., Murray, A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nguyen-Dumont, T., Niederacher, D., Olah, E., Olopade, O. I., Palli, D., Parsons, M. T., Pedersen, I. S., Peissel, B., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Pinto, P., Porteous, M. E., Pottinger, C., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Robson, M., Rogers, M. T., Rønlund, K., Rump, A., Sanchez De Abajo, A. M., Shah, P. D., Sharif, S., Side, L. E., Singer, C. F., Stadler, Z., Steele, L., Stoppa-Lyonnet, D., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teule, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Tommasi, S., Toss, A., Trainer, A. H., Tripathi, V., Valentini, V., Van Asperen, C. J., Venturelli, M., Viel, A., Vijai, J., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Whaite, A., Zanna, I., Offit, K., Thomassen, M., Couch, F. J., Schmutzler, R. K., Simard, J., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Ottini, L., Jan 1 2022, In: Journal of the National Cancer Institute. 114, 1, p. 109-122 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

    NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, ABCTB Investigators, KConFab investigators, KConFab investigators, NBCS Collaborators & ABCTB Investigators, Nov 5 2020, In: American journal of human genetics. 107, 5, p. 837-848 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

    Kirchhoff, T., Offit, K., Gaudet, M. M., Pharoah, P. D. P., Easton, D. F., Antoniou, A. C., Mcguffog, L., Humphreys, M. K., Dunning, A. M., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Kang, D., Yoo, K. Y., Noh, D. Y., Ahn, S. H., Dork, T., Schürmann, P., Karstens, J. H., Hillemanns, P., & 115 othersCouch, F. J., Olson, J., Vachon, C., Wang, X., Cox, A., Brock, I., Elliott, G., Reed, M. W. R., Burwinkel, B., Meindl, A., Brauch, H., Justenhoven, C., Hamann, U., Ko, Y. D., Fischer, H. P., Brüning, T., Pesch, B., Harth, V., Rabstein, S., Broeks, A., Schmidt, M. K., Van 't Veer, L. J., Braaf, L. M., Johnson, N., Fletcher, O., Gibson, L., Peto, J., Turnbull, C., Seal, S., Renwick, A., Rahman, N., Wu, P. E., Yu, J. C., Hsiung, C. N., Shen, C. Y., Southey, M. C., Hopper, J. L., Hammet, F., van Dorpe, T., Dieudonne, A. S., Hatse, S., Lambrechts, D., Andrulis, I. L., Bogdanova, N., Antonenkova, N., Rogov, J. I., Prokofieva, D., Bermisheva, M., Khusnutdinova, E., van Asperen, C. J., Tollenaar, R. A. E. M., Hooning, M. J., Devilee, P., Margolin, S., Lindblom, A., Milne, R. L., Arias, J. I., Pilar Zamora, M., Benítez, J., Severi, G., Baglietto, L., Giles, G. G., Chenevix-Trench, G., Spurdle, A. B., Beesley, J., Chen, X., Holland, H., Healey, S., Wang-Gohrke, S., Chang-Claude, J., Mannermaa, A., Kosma, V. M., Kauppinen, J., Kataja, V., Agnarsson, B. A., Caligo, M. A., Godwin, A. K., Nevanlinna, H., Heikkinen, T., Fredericksen, Z., Lindor, N., Nathanson, K. L., Domchek, S. M., Loman, N., Karlsson, P., Askmalm, M. S., Melin, B., Von Wachenfeldt, A., Hogervorst, F. B. L., Verheus, M., Rookus, M. A., Seynaeve, C., Oldenburg, R. A., Ligtenberg, M. J., Ausems, M. G. E. M., Aalfs, C. M., Gille, H. J. P., Wijnen, J. T., Gómez García, E. B., Peock, S., Cook, M., Oliver, C. T., Frost, D., Luccarini, C., Pichert, G., Davidson, R., Chu, C., Eccles, D., Ong, K. R., Cook, J., Douglas, F., Hodgson, S., Gareth Evans, D., Eeles, R. & Gold, B., Jun 29 2012, In: PloS one. 7, 6, e35706.

    Research output: Contribution to journalArticlepeer-review

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

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

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Breast-cancer risk in families with mutations in PALB2

    Antoniou, A. C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., Lee, A., Subramanian, D., De Leeneer, K., Fostira, F., Tomiak, E., Neuhausen, S. L., Teo, Z. L., Khan, S., Aittomäki, K., Moilanen, J. S., Turnbull, C., Seal, S., Mannermaa, A., Kallioniemi, A., & 28 othersLindeman, G. J., Buys, S. S., Andrulis, I. L., Radice, P., Tondini, C., Manoukian, S., Toland, A. E., Miron, P., Weitzel, J. N., Domchek, S. M., Poppe, B., Claes, K. B. M., Yannoukakos, D., Concannon, P., Bernstein, J. L., James, P. A., Easton, D. F., Goldgar, D. E., Hopper, J. L., Rahman, N., Peterlongo, P., Nevanlinna, H., King, M. C., Couch, F. J., Southey, M. C., Winqvist, R., Foulkes, W. D. & Tischkowitz, M., Aug 7 2014, In: New England Journal of Medicine. 371, 6, p. 497-506 10 p.

    Research output: Contribution to journalArticlepeer-review

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

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

    Research output: Contribution to journalArticlepeer-review

    70 Scopus citations
  • Breast Cancer Screening Strategies for Women with ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis

    Lowry, K. P., Geuzinge, H. A., Stout, N. K., Alagoz, O., Hampton, J., Kerlikowske, K., De Koning, H. J., Miglioretti, D. L., Van Ravesteyn, N. T., Schechter, C., Sprague, B. L., Tosteson, A. N. A., Trentham-Dietz, A., Weaver, D., Yaffe, M. J., Yeh, J. M., Couch, F. J., Hu, C., Kraft, P., Polley, E. C., & 3 othersMandelblatt, J. S., Kurian, A. W. & Robson, M. E., Apr 2022, In: JAMA Oncology. 8, 4, p. 587-596 10 p.

    Research output: Contribution to journalArticlepeer-review

  • Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

    Kotsopoulos, J., Lubinski, J., Salmena, L., Lynch, H. T., Kim-Sing, C., Foulkes, W. D., Ghadirian, P., Neuhausen, S. L., Demsky, R., Tung, N., Ainsworth, P., Senter, L., Eisen, A., Eng, C., Singer, C., Ginsburg, O., Blum, J., Huzarski, T., Poll, A., Sun, P., & 65 othersNarod, S. A., Daly, M., Gilchrist, D., Fallen, T., Chudley, A., Lunn, J., Donenberg, T., Karlan, B., Kurz, R. N., Weitzel, J., Saal, H., Zakalik, D., Friedman, S., Garber, J., Rennert, G., Sweet, K., Gershoni-Baruch, R., 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., McLennan, J., Costalas, J. W., Reilly, R. E., Pal, T., Vadaparampil, S., Offit, K., Robson, M., Kauff, N., Klijn, J., Moller, P., Euhus, D., Kwong, A., Isaacs, C., Couch, F., Manoukian, S., Cybulski, C., Gronwald, J., Byrski, T., Panchal, S., Nanda, S., Metcalfe, K., Rosen, B., Randall, S., Valentini, A., Llacuachaqui, M., Ragone, A., Ng, J., Buono, K. D., Bisnaire, K., Nikitina, D., Loo, A., Khorram, B., Gordon, D., May, C., Jones, M. & Lozano, J. M., Mar 9 2012, In: Breast Cancer Research. 14, 2, R42.

    Research output: Contribution to journalArticlepeer-review

    61 Scopus citations
  • Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation

    the Hereditary Ovarian Cancer Clinical Study Group, Dec 2020, In: Gynecologic oncology. 159, 3, p. 820-826 7 p.

    Research output: Contribution to journalArticlepeer-review

  • Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer

    the PRACTICAL Consortium, the COGS-CRUK GWAS, the BCAC Consortium, the TRICL Consortium, Mar 31 2017, In: BMC genomics. 18, 1, 270.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    17 Scopus citations
  • Cancer risks associated with germline PALB2 pathogenic variants: An international study of 524 families

    Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., Pooley, K., Dorling, L., Leei, A., Adank, M. A., Adlard, J., Aittomäki, K., Andrulis, I. L., Ang, P., & 99 othersBarwell, J., Bernstein, J. L., Bobolis, K., Borg, Å., Blomqvist, C., Claes, K. B. M., Concannon, P., Cuggia, A., Culver, J. O., Damiola, F., De Pauw, A., Diez, O., Dolinsky, J. S., Domchek, S. M., Engel, C., Evans, D. G., Fostira, F., Garber, J., Golmard, L., Goode, E. L., Gruber, S. B., Hahnen, E., Hake, C., Heikkinen, T., Hurley, J. E., Janavicius, R., Kleibl, Z., Kleiblova, P., Konstantopoulou, I., Kvist, A., Laduca, H., Lee, A. S. G., Lesueur, F., Maher, E. R., Mannermaa, A., Manoukian, S., McFarland, R., McKinnon, W., Meindl, A., Metcalfe, K., Taib, N. A. M., Moilanen, J., Nathanson, K. L., Neuhausen, S., Ng, P. S., Nguyen-Dumont, T., Nielsen, S. M., Obermair, F., Offit, K., Olopade, O. I., Ottini, L., Penkert, J., Pylkäs, K., Radice, P., Ramus, S. J., Rudaitis, V., Side, L., Silva-Smith, R., Silvestri, V., Skytte, A. B., Slavin, T., Soukupova, J., Tondini, C., Trainer, A. H., Unzeitig, G., Usha, L., Van Overeem Hansen, T., Whitworth, J., Wood, M., Yip, C. H., Yoon, S. Y., Yussuf, A., Zogopoulos, G., Goldgar, D., Hopper, J. L., Chenevix-Trench, G., Pharoah, P., George, S. H. L., Balmaña, J., Houdayer, C., James, P., El-Haffaf, Z., Ehrencrona, H., Janatova, M., Peterlongo, P., Nevanlinna, H., Schmutzler, R., Teo, S. H., Robson, M., Pal, T., Couch, F., Weitzel, J. N., Elliott, A., Southey, M., Winqvist, R., Easton, D. F., Foulkes, W. D., Antoniou, A. C. & Tischkowitz, M., Mar 1 2020, In: Journal of Clinical Oncology. 38, 7, p. 674-685 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    70 Scopus citations
  • Cancer susceptibility gene mutations in type I and II endometrial cancer

    Long, B., Lilyquist, J., Weaver, A., Hu, C., Gnanaolivu, R., Lee, K. Y., Hart, S. N., Polley, E. C., Bakkum-Gamez, J. N., Couch, F. J. & Dowdy, S. C., Jan 2019, In: Gynecologic oncology. 152, 1, p. 20-25 6 p.

    Research output: Contribution to journalArticlepeer-review

    15 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
  • CBP truncating mutations in ovarian cancer

    Ward, R., Johnson, M., Shridhar, V., Van Deursen, J. & Couch, F. J., Jun 2005, In: Journal of medical genetics. 42, 6, p. 514-518 5 p.

    Research output: Contribution to journalArticlepeer-review

    21 Scopus citations
  • CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival

    Minguillón, J., Ramírez, M. J., Rovirosa, L., Bustamante-Madrid, P., Camps-Fajol, C., De Garibay, G. R., Shimelis, H., Montanuy, H., Pujol, R., Hernandez, G., Bogliolo, M., Castillo, P., Soucy, P., Martrat, G., Gómez, A., Cuadras, D., García, M. J., Gayarre, J., Lázaro, C., Benítez, J., & 3 othersCouch, F. J., Angel Pujana, M. & Surrallés, J., Jan 1 2022, In: Cancers. 14, 2, 353.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Cell cycle genes and ovarian cancer susceptibility: A tagSNP analysis

    Cunningham, J. M., Vierkant, R. A., Sellers, T. A., Phelan, C., Rider, D. N., Liebow, M., Schildkraut, J., Berchuck, A., Couch, F. J., Wang, X., Fridley, B. L., Gentry-Maharaj, A., Menon, U., Hogdall, E., Kjaer, S., Whittemore, A., Dicioccio, R., Song, H., Gayther, S. A., Ramus, S. J., & 2 othersPharaoh, P. D. P. & Goode, E. L., Oct 20 2009, In: British journal of cancer. 101, 8, p. 1461-1468 8 p.

    Research output: Contribution to journalArticlepeer-review

    35 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
  • Centrosome-related genes, genetic variation, and risk of breast cancer

    Olson, J. E., Wang, X., Pankratz, V. S., Fredericksen, Z. S., Vachon, C. M., Vierkant, R. A., Cerhan, J. R. & Couch, F. J., Jan 2011, In: Breast Cancer Research and Treatment. 125, 1, p. 221-228 8 p.

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    34 Scopus citations
  • Characteristics and Spatially Defined Immune (micro)landscapes of Early-stage PD-L1–positive Triple-negative Breast Cancer

    Carter, J. M., Polley, M. Y. C., Leon-Ferre, R. A., Sinnwell, J., Thompson, K. J., Wang, X., Ma, Y., Zahrieh, D., Kachergus, J. M., Solanki, M., Boughey, J. C., Liu, M. C., Ingle, J. N., Kalari, K. R., Couch, F. J., Thompson, E. A. & Goetz, M. P., Oct 15 2021, In: Clinical Cancer Research. 27, 20, p. 5628-5637 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Characterization of 10 new polymorphic dinucleotide repeats and generation of a high-density microsatellite-based physical map of the BRCA1 region of chromosome 17q21

    Couch, F. J., Kiousis, S., Castilla, L. H., Xu, J., Chandrasekharappa, S. C., Chamberlain, J. S., Collins, F. S. & Weber, B. L., Dec 1994, In: Genomics. 24, 3, p. 419-424 6 p.

    Research output: Contribution to journalArticlepeer-review

    10 Scopus citations
  • Characterization of EZH1, a human homolog of Drosophila enhancer of zeste near BRCA1

    Abel, K. J., Brody, L. C., Valdes, J. M., Erdos, M. R., McKinley, D. R., Castilla, L. H., Merajver, S. D., Couch, F. J., Friedman, L. S., Ostermeyer, E. A., Lynch, E. D., King, M. C., Welcsh, P. L., Osborne-Lawrence, S., Spillman, M., Bowcock, A. M., Collins, F. S. & Weber, B. L., Oct 15 1996, In: Genomics. 37, 2, p. 161-171 11 p.

    Research output: Contribution to journalArticlepeer-review

    41 Scopus citations
  • Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    Silvestri, V., Leslie, G., Barnes, D. R., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., Barkardottir, R. B., Barroso, A., Barrowdale, D., Benitez, J., Bonanni, B., Borg, A., Buys, S. S., Caldés, T., Caligo, M. A., Capalbo, C., Campbell, I., Chung, W. K., Claes, K. B. M., & 103 othersColonna, S. V., Cortesi, L., Couch, F. J., De La Hoya, M., Diez, O., Ding, Y. C., Domchek, S., Easton, D. F., Ejlertsen, B., Engel, C., Evans, D. G., Feliubadalò, L., Foretova, L., Fostira, F., Géczi, L., Gerdes, A. M., Glendon, G., Godwin, A. K., Goldgar, D. E., Hahnen, E., Hogervorst, F. B. L., Hopper, J. L., Hulick, P. J., Isaacs, C., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., John, E. M., Joseph, V., Konstantopoulou, I., Kurian, A. W., Kwong, A., Landucci, E., Lesueur, F., Loud, J. T., Machackova, E., Mai, P. L., Majidzadeh-A, K., Manoukian, S., Montagna, M., Moserle, L., Mulligan, A. M., Nathanson, K. L., Nevanlinna, H., Ngeow Yuen Ye, J., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Osorio, A., Papi, L., Park, S. K., Pedersen, I. S., Perez-Segura, P., Petersen, A. H., Pinto, P., Porfirio, B., Pujana, M. A., Radice, P., Rantala, J., Rashid, M. U., Rosenzweig, B., Rossing, M., Santamariña, M., Schmutzler, R. K., Senter, L., Simard, J., Singer, C. F., Solano, A. R., Southey, M. C., Steele, L., Steinsnyder, Z., Stoppa-Lyonnet, D., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Toland, A. E., Torres-Esquius, S., Tung, N., Van Asperen, C. J., Vega, A., Viel, A., Vierstraete, J., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yoon, S. Y., Zorn, K. K., Mcguffog, L., Parsons, M. T., Hamann, U., Greene, M. H., Kirk, J. A., Neuhausen, S. L., Rebbeck, T. R., Tischkowitz, M., Chenevix-Trench, G., Antoniou, A. C., Friedman, E. & Ottini, L., Aug 2020, In: JAMA Oncology. 6, 8, p. 1218-1230 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

    Weischer, M., Nordestgaard, B. G., Pharoah, P., Bolla, M. K., Nevanlinna, H., Van't Veer, L. J., Garcia-Closas, M., Hopper, J. L., Hall, P., Andrulis, I. L., Devilee, P., Fasching, P. A., Anton-Culver, H., Lambrechts, D., Hooning, M., Cox, A., Giles, G. G., Burwinkel, B., Lindblom, A., Couch, F. J., & 49 othersMannermaa, A., Alnæs, G. G., John, E. M., Dörk, T., Flyger, H., Dunning, A. M., Wang, Q., Muranen, T. A., Van Hien, R., Figueroa, J., Southey, M. C., Czene, K., Knight, J. A., Tollenaar, R. A. E. M., Beckmann, M. W., Ziogas, A., Christiaens, M. R., Collée, J. M., Reed, M. W. R., Severi, G., Marme, F., Margolin, S., Olson, J. E., Kosma, V. M., Kristensen, V. N., Miron, A., Bogdanova, N., Shah, M., Blomqvist, C., Broeks, A., Sherman, M., Phillips, K. A., Li, J., Liu, J., Glendon, G., Seynaeve, C., Ekici, A. B., Leunen, K., Kriege, M., Cross, S. S., Baglietto, L., Sohn, C., Wang, X., Kataja, V., Børresen-Dale, A. L., Meyer, A., Easton, D. F., Schmidt, M. K. & Bojesen, S. E., Dec 10 2012, In: Journal of Clinical Oncology. 30, 35, p. 4308-4316 9 p.

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    113 Scopus citations
  • Chromosomal mapping of the rat Slc4a family of anion exchanger genes, Ae1, Ae2, and Ae3

    Simon, J. S., Deshmukh, G., Couch, F. J., Merajver, S. D., Weber, B. L., Van Vooren, P., Tissil, F., Szpirer, J., Szpirer, C., Alper, S. L., Jacob, H. J. & Brosius, F. C., 1996, In: Mammalian Genome. 7, 5, p. 380-382 3 p.

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • Cigarette smoking increases risk for breast cancer in high-risk breast cancer families

    Couch, F. J., Cerhan, J. R., Vierkant, R. A., Grabrick, D. M., Therneau, T. M., Pankratz, V. S., Hartmann, L. C., Olson, J. E., Vachon, C. M. & Sellers, T. A., 2001, In: Cancer Epidemiology Biomarkers and Prevention. 10, 4, p. 327-332 6 p.

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    51 Scopus citations
  • Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

    Hu, C., Susswein, L. R., Roberts, M. E., Yang, H., Marshall, M. L., Hiraki, S., Berkofsky-Fessler, W., Gupta, S., Shen, W., Dunn, C. A., Huang, H., Na, J., Domchek, S. M., Yadav, S., Monteiro, A. N. A., Polley, E. C., Hart, S. N., Hruska, K. S. & Couch, F. J., Sep 1 2022, In: Clinical Cancer Research. 28, 17, p. 3742-3751 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

    Vallée, M. P., Francy, T. C., Judkins, M. K., Babikyan, D., Lesueur, F., Gammon, A., Goldgar, D. E., Couch, F. J. & Tavtigian, S. V., Jan 2012, In: Human mutation. 33, 1, p. 22-28 7 p.

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    54 Scopus citations
  • Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

    Li, H., LaDuca, H., Pesaran, T., Chao, E. C., Dolinsky, J. S., Parsons, M., Spurdle, A. B., Polley, E. C., Shimelis, H., Hart, S. N., Hu, C., Couch, F. J. & Goldgar, D. E., Apr 1 2020, In: Genetics in Medicine. 22, 4, p. 701-708 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • Classifying variants of undetermined significance in BRCA2 with protein likelihood ratios

    Karchin, R., Agarwal, M., Sali, A., Couch, F. & Beattie, M. S., 2008, In: Cancer Informatics. 6, p. 203-216 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    40 Scopus citations
  • Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes

    Welsh, J. L., Hoskin, T. L., Day, C. N., Thomas, A. S., Cogswell, J. A., Couch, F. J. & Boughey, J. C., Oct 1 2017, In: Annals of surgical oncology. 24, 10, p. 3067-3072 6 p.

    Research output: Contribution to journalArticlepeer-review

    33 Scopus citations
  • Clinical effectiveness of olaparib monotherapy in germline BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: phase IIIb LUCY interim analysis

    Collaborating Investigators, Jul 2021, In: European Journal of Cancer. 152, p. 68-77 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

    Spearman, A. D., Sweet, K., Zhou, X. P., McLennan, J., Couch, F. J. & Toland, A. E., Nov 20 2008, In: Journal of Clinical Oncology. 26, 33, p. 5393-5400 8 p.

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    65 Scopus citations
  • Clinical options for women at high risk for breast cancer

    Hartmann, L. C., Sellers, T. A., Schaid, D. J., Nayfield, S., Grant, C. S., Bjoraker, J. A., Woods, J. & Couch, F., Jan 1 1999, In: Surgical Clinics of North America. 79, 5, p. 1189-1206 18 p.

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    19 Scopus citations
  • Clinical testing of BRCA1 and BRCA2: A worldwide snapshot of technological practices

    Toland, A. E., Forman, A., Couch, F. J., Culver, J. O., Eccles, D. M., Foulkes, W. D., Hogervorst, F. B. L., Houdayer, C., Levy-Lahad, E., Monteiro, A. N., Neuhausen, S. L., Plon, S. E., Sharan, S. K., Spurdle, A. B., Szabo, C. & Brody, L. C., Dec 1 2018, In: npj Genomic Medicine. 3, 1, 7.

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    Open Access
    19 Scopus citations
  • Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

    Lee, K., Seifert, B. A., Shimelis, H., Ghosh, R., Crowley, S. B., Carter, N. J., Doonanco, K., Foreman, A. K., Ritter, D. I., Jimenez, S., Trapp, M., Offit, K., Plon, S. E. & Couch, F. J., Jul 1 2019, In: Genetics in Medicine. 21, 7, p. 1497-1506 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 Scopus citations
  • Collaborative science in the next-generation sequencing era: A viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

    Hart, S. N., Maxwell, K. N., Thomas, T., Ravichandran, V., Wubberhorst, B., Klein, R. J., Schrader, K., Szabo, C., Weitzel, J. N., Neuhausen, S. L., Nathanson, K., Offit, K., Couch, F. J. & Vijai, J., Jul 1 2016, In: Briefings in bioinformatics. 17, 4, p. 672-677 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Combined Associations of a Polygenic Risk Score and Classical Risk Factors with Breast Cancer Risk

    ABCTB Investigators & kConFab/AOCS Investigators, Mar 1 2021, In: Journal of the National Cancer Institute. 113, 3, p. 329-337 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    de la Hoya, M., Soukarieh, O., López-Perolio, I., Vega, A., Walker, L. C., van Ierland, Y., Baralle, D., Santamariña, M., Lattimore, V., Wijnen, J., Whiley, P., Blanco, A., Raponi, M., Hauke, J., Wappenschmidt, B., Becker, A., Hansen, T. V. O., Behar, R., KConFaB Investigators, I., Niederacher, D., & 55 othersArnold, N., Dworniczak, B., Steinemann, D., Faust, U., Rubinstein, W., Hulick, P. J., Houdayer, C., Caputo, S. M., Castera, L., Pesaran, T., Chao, E., Brewer, C., Southey, M. C., van Asperen, C. J., Singer, C. F., Sullivan, J., Poplawski, N., Mai, P., Peto, J., Johnson, N., Burwinkel, B., Surowy, H., Bojesen, S. E., Flyger, H., Lindblom, A., Margolin, S., Chang-Claude, J., Rudolph, A., Radice, P., Galastri, L., Olson, J. E., Hallberg, E., Giles, G. G., Milne, R. L., Andrulis, I. L., Glendon, G., Hall, P., Czene, K., Blows, F., Shah, M., Wang, Q., Dennis, J., Michailidou, K., McGuffog, L., Bolla, M. K., Antoniou, A. C., Easton, D. F., Couch, F. J., Tavtigian, S., Vreeswijk, M. P., Parsons, M., Meeks, H. D., Martins, A., Goldgar, D. E. & Spurdle, A. B., Jun 1 2016, In: Human molecular genetics. 25, 11, p. 2256-2268 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    44 Scopus citations
  • Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L., Radice, P., & 282 othersMai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A. M., Kruse, T. A., Jensen, U. B., Crüger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch-Shimon, S., Friedman, E., Loman, N., Harbst, K., Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Gronwald, J., Huzarski, T., Byrski, T., Cybulski, C., Gorski, B., Osorio, A., Cajal, T. R., Fostira, F., Andrés, R., Benitez, J., Hamann, U., Hogervorst, F. B., Rookus, M. A., Hooning, M. J., Nelen, M. R., van der Luijt, R. B., van Os, T. A. M., van Asperen, C. J., Devilee, P., Meijers-Heijboer, H. E. J., Garcia, E. B. G., Peock, S., Cook, M., Frost, D., Platte, R., Leyland, J., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Adlard, J., Davidson, R., Eccles, D., Ong, K. R., Cook, J., Douglas, F., Paterson, J., Kennedy, M. J., Miedzybrodzka, Z., Godwin, A., Stoppa-Lyonnet, D., Buecher, B., Belotti, M., Tirapo, C., Mazoyer, S., Barjhoux, L., Lasset, C., Leroux, D., Faivre, L., Bronner, M., Prieur, F., Nogues, C., Rouleau, E., Pujol, P., Coupier, I., Frénay, M., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S. S., Yassin, Y., Miron, A., Goldgar, D., Singer, C. F., Tea, M. K., Pfeiler, G., Dressler, A. C., Hansen, T. V. O., Jønson, L., Ejlertsen, B., Barkardottir, R. B., Kirchhoff, T., Offit, K., Piedmonte, M., Rodriguez, G., Small, L., Boggess, J., Blank, S., Basil, J., Azodi, M., Toland, A. E., Montagna, M., Tognazzo, S., Agata, S., Imyanitov, E., Janavicius, R., Lazaro, C., Blanco, I., Pharoah, P. D. P., Sucheston, L., Karlan, B. Y., Walsh, C. S., Olah, E., Bozsik, A., Teo, S. H., Seldon, J. L., Beattie, M. S., van Rensburg, E. J., Sluiter, M. D., Diez, O., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ruehl, I., Varon-Mateeva, R., Kast, K., Deissler, H., Niederacher, D., Arnold, N., Gadzicki, D., Schönbuchner, I., Caldes, T., de la Hoya, M., Nevanlinna, H., Aittomäki, K., Dumont, M., Chiquette, J., Tischkowitz, M., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Fredericksen, Z., Wang, X., Pankratz, V. S., Couch, F., Simard, J., Easton, D. F., Chenevix-Trench, G., Karlsson, P., Nordling, M., Bergman, A., Einbeigi, Z., Stenmark-Askmalm, M., Liedgren, S., Borg, A., Olsson, H., Kristoffersson, U., Jernström, H., Henriksson, K., von Wachenfeldt, A., Liljegren, A., Barbany-Bustinza, G., Rantala, J., Grönberg, H., Stattin, E. L., Emanuelsson, M., Brandell, R. R., Dahl, N., Verhoef, S., Verheus, M., Veer, L. J. V. T., van Leeuwen, F. E., Collée, M., van den Ouweland, A. M. W., Jager, A., Tilanus-Linthorst, M. M. A., Seynaeve, C., Wijnen, J. T., Vreeswijk, M. P., Tollenaar, R. A., Ligtenberg, M. J., Hoogerbrugge, N., Ausems, M. G., Aalfs, C. M., van Os, T. A. M., Gille, J. J. P., Waisfisz, Q., 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., Gregory, H., Morrison, P., Jeffers, L., Cole, T., McKeown, C., Hoffman, J., Donaldson, A., Downing, S., Taylor, A., Murray, A., Rogers, M. T., McCann, E., Barton, D., Porteous, M., Drummond, S., Brewer, C., Kivuva, E., Searle, A., Goodman, S., Hill, K., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Jacobs, C., Langman, C., Whaite, A., Dorkins, H., Barwell, J., Chu, C., Miller, J., Ellis, I., Houghton, C., Taylor, J., Side, L., Male, A., Berlin, C., Eason, J., Collier, R., Claber, O., Jobson, I., Walker, L., McLeod, D., Halliday, D., Durell, S., Stayner, B., 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., Quarrell, O., Bardsley, C., Hodgson, S., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Lucassen, A., Crawford, G., McBride, D. & Smalley, S., Aug 1 2011, In: Human molecular genetics. 20, 16, p. 3304-3321 18 p.

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  • Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Antoniou, A. C., Spurdle, A. B., Sinilnikova, O. M., Healey, S., Pooley, K. A., Schmutzler, R. K., Versmold, B., Engel, C., Meindl, A., Arnold, N., Hofmann, W., Sutter, C., Niederacher, D., Deissler, H., Caldes, T., Kämpjärvi, K., Nevanlinna, H., Simard, J., Beesley, J., Chen, X., & 66 othersNeuhausen, S. L., Rebbeck, T. R., Wagner, T., Lynch, H. T., Isaacs, C., Weitzel, J., Ganz, P. A., Daly, M. B., Tomlinson, G., Olopade, O. I., Blum, J. L., Couch, F. J., Peterlongo, P., Manoukian, S., Barile, M., Radice, P., Szabo, C. I., Pereira, L. H. M., Greene, M. H., Rennert, G., Lejbkowicz, F., Barnett-Griness, O., Andrulis, I. L., Ozcelik, H., Gerdes, A. M., Caligo, M. A., Laitman, Y., Kaufman, B., Milgrom, R., Friedman, E., Domchek, S. M., Nathanson, K. L., Osorio, A., Llort, G., Milne, R. L., Benítez, J., Hamann, U., Hogervorst, F. B. L., Manders, P., Ligtenberg, M. J. L., van den Ouweland, A. M. W., Peock, S., Cook, M., Platte, R., Evans, D. G., Eeles, R., Pichert, G., Chu, C., Eccles, D., Davidson, R., Douglas, F., Godwin, A. K., Barjhoux, L., Mazoyer, S., Sobol, H., Bourdon, V., Eisinger, F., Chompret, A., Capoulade, C., Bressac-de Paillerets, B., Lenoir, G. M., Gauthier-Villars, M., Houdayer, C., Stoppa-Lyonnet, D., Chenevix-Trench, G. & Easton, D. F., Apr 11 2008, In: American journal of human genetics. 82, 4, p. 937-948 12 p.

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    223 Scopus citations
  • Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction

    Antoniou, A. C., Beesley, J., McGuffog, L., Sinilnikova, O. M., Healey, S., Neuhausen, S. L., Ding, Y. C., Rebbeck, T. R., Weitzel, J. N., Lynch, H. T., Isaacs, C., Ganz, P. A., Tomlinson, G., Olopade, O. I., Couch, F. J., Wang, X., Lindor, N. M., Pankratz, V. S., Radice, P., Manoukian, S., & 158 othersPeissel, B., Zaffaroni, D., Barile, M., Viel, A., Allavena, A., Dall'Olio, V., Peterlongo, P., Szabo, C. I., Zikan, M., Claes, K., Poppe, B., Foretova, L., Mai, P. L., Greene, M. H., Rennert, G., Lejbkowicz, F., Glendon, G., Ozcelik, H., Andrulis, I. L., Thomassen, M., Gerdes, A. M., Sunde, L., Cruger, D., Jensen, U. B., Caligo, M., Friedman, E., Kaufman, B., Laitman, Y., Milgrom, R., Dubrovsky, M., Cohen, S., Borg, A., Jernström, H., Lindblom, A., Rantala, J., Stenmark-Askmalm, M., Melin, B., Nathanson, K., Domchek, S., Jakubowska, A., Lubinski, J., Huzarski, T., Osorio, A., Lasa, A., Durán, M., Tejada, M. I., Godino, J., Benitez, J., Hamann, U., Kriege, M., Hoogerbrugge, N., Van Der Luijt, R. B., Van Asperen, C. J., Devilee, P., Meijers-Heijboer, E. J., Blok, M. J., Aalfs, C. M., Hogervorst, F., Rookus, M., Cook, M., Oliver, C., Frost, D., Conroy, D., Evans, D. G., Lalloo, F., Pichert, G., Davidson, R., Cole, T., Cook, J., Paterson, J., Hodgson, S., Morrison, P. J., Porteous, M. E., Walker, L., Kennedy, M. J., Dorkins, H., Peock, S., Godwin, A. K., Stoppa-Lyonnet, D., De Pauw, A., Mazoyer, S., Bonadona, V., Lasset, C., Dreyfus, H., Leroux, D., Hardouin, A., Berthet, P., Faivre, L., Loustalot, C., Noguchi, T., Sobol, H., Rouleau, E., Nogues, C., Frénay, M., Vénat-Bouvet, L., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S. S., Yassin, Y., Miron, A., Goldgar, D., Singer, C. F., Dressler, A. C., Gschwantler-Kaulich, D., Pfeiler, G., Hansen, T. V. O., Jnson, L., Agnarsson, B. A., Kirchhoff, T., Offit, K., Devlin, V., Dutra-Clarke, A., 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., Tihomirova, L., Blanco, I., Lazaro, C., Ramus, S. J., Sucheston, L., Karlan, B. Y., Gross, J., Schmutzler, R., Wappenschmidt, B., Engel, C., Meindl, A., Lochmann, M., Arnold, N., Heidemann, S., Varon-Mateeva, R., Niederacher, D., Sutter, C., Deissler, H., Gadzicki, D., Preisler-Adams, S., Kast, K., Schönbuchner, I., Caldes, T., De La Hoya, M., Aittomäki, K., Nevanlinna, H., Simard, J., Spurdle, A. B., Holland, H., Chen, X., Platte, R., Chenevix-Trench, G. & Easton, D. F., Dec 1 2010, In: Cancer research. 70, 23, p. 9742-9754 13 p.

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    144 Scopus citations
  • Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    Mulligan, A. M., Couch, F. J., Barrowdale, D., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Robson, M., Sherman, M., Spurdle, A. B., Wappenschmidt, B., Lee, A., McGuffog, L., Healey, S., Sinilnikova, O. M., Janavicius, R., Hansen, T. V., Nielsen, F. C., Ejlertsen, B., Osorio, A., & 162 othersMuñoz-Repeto, I., Durán, M., Godino, J., Pertesi, M., Benítez, J., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Bonanni, B., Viel, A., Pasini, B., Papi, L., Ottini, L., Savarese, A., Bernard, L., Radice, P., Hamann, U., Verheus, M., Meijers-Heijboer, H. E. J., Wijnen, J., Gómez García, E. B., Nelen, M. R., Kets, C. M., Seynaeve, C., Tilanus-Linthorst, M. M. A., van der Luijt, R. B., Os, T. V., Rookus, M., Frost, D., Jones, J. L., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Adlard, J., Davidson, R., Cook, J., Donaldson, A., Dorkins, H., Gregory, H., Eason, J., Houghton, C., Barwell, J., Side, L. E., McCann, E., Murray, A., Peock, S., Godwin, A. K., Schmutzler, R. K., Rhiem, K., Engel, C., Meindl, A., Ruehl, I., Arnold, N., Niederacher, D., Sutter, C., Deissler, H., Gadzicki, D., Kast, K., Preisler-Adams, S., Varon-Mateeva, R., Schoenbuchner, I., Fiebig, B., Heinritz, W., Schäfer, D., Gevensleben, H., Caux-Moncoutier, V., Fassy-Colcombet, M., Cornelis, F., Mazoyer, S., Léoné, M., Boutry-Kryza, N., Hardouin, A., Berthet, P., Muller, D., Fricker, J. P., Mortemousque, I., Pujol, P., Coupier, I., Lebrun, M., Kientz, C., Longy, M., Sevenet, N., Stoppa-Lyonnet, D., Isaacs, C., Caldes, T., de la Hoya, M., Heikkinen, T., Aittomäki, K., Blanco, I., Lazaro, C., Barkardottir, R. B., Soucy, P., Dumont, M., Simard, J., Montagna, M., Tognazzo, S., D'Andrea, E., Fox, S., Yan, M., Rebbeck, T., Olopade, O. I., Weitzel, J. N., Lynch, H. T., Ganz, P. A., Tomlinson, G. E., Wang, X., Fredericksen, Z., Pankratz, V. S., Lindor, N. M., Szabo, C., Offit, K., Sakr, R., Gaudet, M., Bhatia, J., Kauff, N., Singer, C. F., Tea, M. K., gschwantler-kaulich, D., Fink-Retter, A., Mai, P. L., Greene, M. H., Imyanitov, E., O'Malley, F. P., Ozcelik, H., Glendon, G., Toland, A. E., Gerdes, A. M., Thomassen, M., Kruse, T. A., Jensen, U. B., Skytte, A. B., Caligo, M. A., Soller, M., Henriksson, K., Wachenfeldt, V. A., Arver, B., Stenmark-Askmalm, M., Karlsson, P., Ding, Y. C., Neuhausen, S. L., Beattie, M., Pharoah, P. D. P., Moysich, K. B., Nathanson, K. L., Karlan, B. Y., Gross, J., John, E. M., Daly, M. B., Buys, S. M., Southey, M. C., Hopper, J. L., Terry, M. B., Chung, W., Miron, A. F., Goldgar, D., Chenevix-Trench, G., Easton, D. F., Andrulis, I. L. & Antoniou, A. C., Nov 2 2011, In: Breast Cancer Research. 13, 6, R110.

    Research output: Contribution to journalArticlepeer-review

    53 Scopus citations
  • Common breast cancer susceptibility loci are associated with triple-negative breast cancer

    Stevens, K. N., Vachon, C. M., Lee, A. M., Slager, S., Lesnick, T., Olswold, C., Fasching, P. A., Miron, P., Eccles, D., Carpenter, J. E., Godwin, A. K., Ambrosone, C., Winqvist, R., Brauch, H., Schmidt, M. K., Cox, A., Cross, S. S., Sawyer, E., Hartmann, A., Beckmann, M. W., & 63 othersSchulz-Wendtland, R., Ekici, A. B., Tapper, W. J., Gerty, S. M., Durcan, L., Graham, N., Hein, R., Nickels, S., Flesch-Janys, D., Heinz, J., Sinn, H. P., Konstantopoulou, I., Fostira, F., Pectasides, D., Dimopoulos, A. M., Fountzilas, G., Clarke, C. L., Balleine, R., Olson, J. E., Fredericksen, Z., Diasio, R. B., Pathak, H., Ross, E., Weaver, J. E., Rüdiger, T., Försti, A., Dünnebier, T., Ademuyiwa, F., Kulkarni, S., Pylkäs, K., Jukkola-Vuorinen, A., Ko, Y. D., Van Limbergen, E., Janssen, H., Peto, J., Fletcher, O., Giles, G. G., Baglietto, L., Verhoef, S., Tomlinson, I., Kosma, V. M., Beesley, J., Greco, D., Blomqvist, C., Irwanto, A., Liu, J., Blows, F. M., Dawson, S. J., Margolin, S., Mannermaa, A., Martin, N. G., Montgomery, G. W., Lambrechts, D., Dos Santos Silva, I., Severi, G., Hamann, U., Pharoah, P., Easton, D. F., Chang-Claude, J., Yannoukakos, D., Nevanlinna, H., Wang, X. & Couch, F. J., Oct 1 2011, In: Cancer research. 71, 19, p. 6240-6249 10 p.

    Research output: Contribution to journalArticlepeer-review

    94 Scopus citations
  • Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk

    Vachon, C. M., Scott, C. G., Fasching, P. A., Hall, P., Tamimi, R. M., Li, J., Stone, J., Apicella, C., Odefrey, F., Gierach, G. L., Jud, S. M., Heusinger, K., Beckmann, M. W., Pollan, M., Fernańdez-Navarro, P., Gonzalez-Neira, A., Benitez, J., Van Gils, C. H., Lokate, M., Onland-Moret, N. C., & 56 othersPeeters, P. H. M., Brown, J., Leyland, J., Varghese, J. S., Easton, D. F., Thompson, D. J., Luben, R. N., Warren, R. M. L., Wareham, N. J., Loos, R. J. F., Khaw, K. T., Ursin, G., Lee, E., Gayther, S. A., Ramus, S. J., Eeles, R. A., Leach, M. O., Kwan-Lim, G., Couch, F. J., Giles, G. G., Baglietto, L., Krishnan, K., Southey, M. C., Le Marchand, L., Kolonel, L. N., Woolcott, C., Maskarinec, G., Haiman, C. A., Walker, K., Johnson, N., McCormack, V. A., Biong, M., Alnaes, G. I. G., Gram, I. T., Kristensen, V. N., Brøresen-Dale, A. L., Lindstrom̈, S., Hankinson, S. E., Hunter, D. J., Andrulis, I. L., Knight, J. A., Boyd, N. F., Figuero, J. D., Lissowska, J., Wesolowska, E., Peplonska, B., Bukowska, A., Reszka, E., Liu, J. J., Eriksson, L., Czene, K., Audley, T., Wu, A. H., Pankratz, V. S., Hopper, J. L. & Dos-Santos-Silva, I., Jul 2012, In: Cancer Epidemiology Biomarkers and Prevention. 21, 7, p. 1156-1166 11 p.

    Research output: Contribution to journalArticlepeer-review

    86 Scopus citations
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