Fergus J Couch

Fergus J Couch, PhD

Chair, Division of Experimental Pathology

1991 …2022

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  • Article

    11q13 is a susceptibility locus for hormone receptor positive breast cancer

    Lambrechts, D., Truong, T., Justenhoven, C., Humphreys, M. K., Wang, J., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Cornelissen, S., van Hien, R., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Milne, R. L., Zamora, M. P., Pérez, J. I. A., & 130 othersBenítez, J., Hamann, U., Ko, Y. D., Brüning, T., Chang-Claude, J., Eilber, U., Hein, R., Nickels, S., Flesch-Janys, D., Wang-Gohrke, S., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Chenevix-Trench, G., Beesley, J., Chen, X., Investigators, K. C. F., Menegaux, F., Cordina-Duverger, E., Shen, C. Y., Yu, J. C., Wu, P. E., Hou, M. F., Andrulis, I. L., Selander, T., Glendon, G., Mulligan, A. M., Anton-Culver, H., Ziogas, A., Muir, K. R., Lophatananon, A., Rattanamongkongul, S., Puttawibul, P., Jones, M., Orr, N., Ashworth, A., Swerdlow, A., Severi, G., Baglietto, L., Giles, G., Marmé, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Yesilyurt, B. T., Neven, P., Paridaens, R., Wildiers, H., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Meindl, A., Schott, S., Bartram, C. R., Schmutzler, R. K., Cox, A., Brock, I. W., Elliott, G., Cross, S. S., Fasching, P. A., Schulz-Wendtland, R., Ekici, A. B., Beckmann, M. W., Fletcher, O., Johnson, N., Silva, I. D. S., Peto, J., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N. V., Antonenkova, N. N., Rogov, Y. I., Karstens, J. H., Khusnutdinova, E., Bermisheva, M., Prokofieva, D., Gancev, S., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Nordestgaard, B. G., Bojesen, S. E., Lanng, C., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Radice, P., Peterlongo, P., Manoukian, S., Bernard, L., Couch, F. J., Olson, J. E., Wang, X., Fredericksen, Z., Alnæs, G. G., Kristensen, V., Børresen-Dale, A. L., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C. M., Hooning, M. J., García-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Hall, P., Liu, J., Czene, K., Kang, D., Yoo, K. Y., Noh, D. Y., Lindblom, A., Margolin, S., Dunning, A. M., Pharoah, P. D. P., Easton, D. F., Guénel, P. & Brauch, H., Jul 2012, In: Human mutation. 33, 7, p. 1123-1132 10 p.

    Research output: Contribution to journalArticlepeer-review

    33 Scopus citations
  • 17q23 amplifications in breast cancer involve the PAT1, RAD51C, PS6K, and SIGMA1B genes

    Wu, G. J., Sinclair, C. S., Paape, J., Ingle, J. N., Roche, P. C., David James, C. & Couch, F. J., Oct 1 2000, In: Cancer research. 60, 19, p. 5371-5375 5 p.

    Research output: Contribution to journalArticlepeer-review

    80 Scopus citations
  • 19p13.1 Is a triple-negative-specific breast cancer susceptibility locus

    Stevens, K. N., Fredericksen, Z., Vachon, C. M., Wang, X., Margolin, S., Lindblom, A., Nevanlinna, H., Greco, D., Aittomak̈i, K., Blomqvist, C., Chang-Claude, J., Vrieling, A., Flesch-Janys, D., Sinn, H. P., Wang-Gohrke, S., Nickels, S., Brauch, H., Ko, Y. D., Fischer, H. P., Schmutzler, R. K., & 134 othersMeindl, A., Bartram, C. R., Schott, S., Engel, C., Godwin, A. K., Weaver, J. E., Pathak, H. B., Sharma, P., Brenner, H., Mul̈ler, H., Arndt, V., Stegmaier, C., Miron, P., Yannoukakos, D., Stavropoulou, A., Fountzilas, G., Gogas, H. J., Swann, R., Dwek, M., Perkins, A., Milne, R. L., Benit́ez, J., Zamora, M. P., Peŕez, J. I. A., Bojesen, S. E., Nielsen, S. F., Nordestgaard, B. G., Flyger, H., Gueńel, P., Truong, T., Menegaux, F., Cordina-Duverger, E., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Sawyer, E., Tomlinson, I., Kerin, M. J., Peto, J., Johnson, N., Fletcher, O., Dos Santos Silva, I., Fasching, P. A., Beckmann, M. W., Hartmann, A., Ekici, A. B., Lophatananon, A., Muir, K., Puttawibul, P., Wiangnon, S., Schmidt, M. K., Broeks, A., Braaf, L. M., Rosenberg, E. H., Hopper, J. L., Apicella, C., Park, D. J., Southey, M. C., Swerdlow, A. J., Ashworth, A., Nicholas, O., Schoemaker, M. J., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C. C., Shen, C. Y., Yu, J. C., Hsu, H. M., Hsiung, C. N., Hamann, U., Dun̈nebier, T., Rud̈iger, T., Ulmer, H. U., Pharoah, P. P., Dunning, A. M., Humphreys, M. K., Wang, Q., Cox, A., Cross, S. S., Reed, M. W., Hall, P., Czene, K., Ambrosone, C. B., Ademuyiwa, F., Hwang, H., Eccles, D. M., Garcia-Closas, M., Figueroa, J. D., Sherman, M. E., Lissowska, J., Devilee, P., Seynaeve, C., Tollenaar, R. A. E. M., Hooning, M. J., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Winqvist, R., Pylkas̈, K., Jukkola-Vuorinen, A., Grip, M., John, E. M., Miron, A., Alnsæ, G. G., Kristensen, V., Brøresen-Dale, A. L., Giles, G. G., Baglietto, L., McLean, C. A., Severi, G., Kosel, M. L., Pankratz, V. S., Slager, S., Olson, J. E., Radice, P., Peterlongo, P., Manoukian, S., Barile, M., Lambrechts, D., Hatse, S., Dieudonne, A. S., Christiaens, M. R., Chenevix-Trench, G., Beesley, J., Chen, X., Mannermaa, A., Kosma, V. M., Hartikainen, J. M., Soini, Y., Easton, D. F. & Couch, F. J., Apr 1 2012, In: Cancer research. 72, 7, p. 1795-1803 9 p.

    Research output: Contribution to journalArticlepeer-review

    75 Scopus citations
  • 7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium

    Milne, R. L., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, J. I., Pilar Zamora, M., Benítez, J., Humphreys, M. K., García-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Mannermaa, A., Kataja, V., Kosma, V. M., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C., Anton-Culver, H., & 63 othersZiogas, A., Devilee, P., van Asperen, C. J., Tollenaar, R. A. E. M., Seynaeve, C., Hall, P., Czene, K., Liu, J., Irwanto, A. K., Kang, D., Yoo, K. Y., Noh, D. Y., Couch, F. J., Olson, J. E., Wang, X., Fredericksen, Z., Nordestgaard, B. G., Bojesen, S. E., Flyger, H., Margolin, S., Lindblom, A., Fasching, P. A., Schulz-Wendtland, R., Ekici, A. B., Beckmann, M. W., Wang-Gohrke, S., Shen, C. Y., Yu, J. C., Hsu, H. M., Wu, P. E., Giles, G. G., Severi, G., Baglietto, L., English, D. R., Cox, A., Brock, I., Elliott, G., Reed, M. W. R., Beesley, J., Chen, X., Fletcher, O., Gibson, L., Silva, I. D. S., Peto, J., Frank, B., Heil, J., Meindl, A., Chang-Claude, J., Hein, R., Vrieling, A., Flesch-Janys, D., Southey, M. C., Smith, L., Apicella, C., Hopper, J. L., Dunning, A. M., Pooley, K. A., Pharoah, P. D. P., Hamann, U., Pesch, B., Ko, Y. D., Easton, D. F. & Chenevix-Trench, G., Oct 2011, In: Journal of medical genetics. 48, 10, p. 698-702 5 p.

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: Evidence from the Breast Cancer Association Consortium

    Warren, H., Dudbridge, F., Fletcher, O., Orr, N., Johnson, N., Hopper, J. L., Apicella, C., Southey, M. C., Mahmoodi, M., Schmidt, M. K., Broeks, A., Cornelissen, S., Braaf, L. M., Muir, K. R., Lophatananon, A., Chaiwerawattana, A., Wiangnon, S., Fasching, P. A., Beckmann, M. W., Ekici, A. B., & 120 othersSchulz-Wendtland, R., Sawyer, E. J., Tomlinson, I., Kerin, M., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Guénel, P., Truong, T., Laurent-Puig, P., Mulot, C., Bojesen, S. E., Nielsen, S. F., Flyger, H., Nordestgaard, B. G., Milne, R. L., Benítez, J., Arias-Pérez, J. I., Zamora, M. P., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C. C., Brenner, H., Müller, H., Arndt, V., Langheinz, A., Meindl, A., Golatta, M., Bartram, C. R., Schmutzler, R. K., Brauch, H., Justenhoven, C., Brüning, T., Chang-Claude, J., Wang-Gohrke, S., Eilber, U., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Bogdanova, N., Antonenkova, N., Rogov, Y., Bermisheva, M., Prokofyeva, D., Zinnatullina, G., Khusnutdinova, E., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V. M., Hartikainen, J. M., Kataja, V., Chenevix-Trench, G., Beesley, J., Chen, X., Lambrechts, D., Smeets, A., Paridaens, R., Weltens, C., Flesch-Janys, D., Buck, K., Behrens, S., Peterlongo, P., Bernard, L., Manoukian, S., Radice, P., Couch, F. J., Vachon, C., Wang, X., Olson, J., Giles, G., Baglietto, L., McLean, C. A., Severi, G., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I. L., Knight, J. A., Mulligan, A. M., Weerasooriya, N., Devilee, P., Tollenaar, R. A. E. M., Martens, J. W. M., Seynaeve, C. M., Hooning, M. J., Hollestelle, A., Jager, A., Tilanus-Linthorst, M. M. A., Hall, P., Czene, K., Liu, J., Li, J., Cox, A., Cross, S. S., Brock, I. W., Reed, M. W. R., Pharoah, P., Blows, F. M., Dunning, A. M., Ghoussaini, M., Ashworth, A., Swerdlow, A., Jones, M., Schoemaker, M., Easton, D. F., Humphreys, M., Wang, Q., Peto, J. & Dos-Santos-Silva, I., Oct 2012, In: Cancer Epidemiology Biomarkers and Prevention. 21, 10, p. 1783-1791 9 p.

    Research output: Contribution to journalArticlepeer-review

    14 Scopus citations
  • A candidate tumor suppressor HtrA1 is downregulated in ovarian cancer

    Chien, J., Staub, J., Hu, S. I., Erickson-Johnson, M. R., Couch, F. J., Smith, D. I., Crowl, R. M., Kaufmann, S. H. & Shridhar, V., Feb 26 2004, In: Oncogene. 23, 8, p. 1636-1644 9 p.

    Research output: Contribution to journalArticlepeer-review

    134 Scopus citations
  • A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    GEMO Study Collaborators, EMBRACE Collaborators, KConFab investigators, HEBON Investigators & ABCTB Investigators, Dec 1 2021, In: Nature communications. 12, 1, 1078.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Accuracy of self-reported cancer treatment data in young breast cancer survivors

    Gast, K. C., Cathcart-Rake, E. J., Norman, A., Eshraghi, L., Obidegwu, N., Couch, F., Vachon, C. & Ruddy, K. J., Dec 1 2019, In: Journal of Patient-Reported Outcomes. 3, 1, 24.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

    Guidugli, L., Pankratz, V. S., Singh, N., Thompson, J., Erding, C. A., Engel, C., Schmutzler, R., Domchek, S., Nathanson, K., Radice, P., Singer, C., Tonin, P. N., Lindor, N. M., Goldgar, D. E. & Couch, F. J., Jan 1 2013, In: Cancer research. 73, 1, p. 265-275 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    70 Scopus citations
  • A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

    LaDuca, H., Polley, E. C., Yussuf, A., Hoang, L., Gutierrez, S., Hart, S. N., Yadav, S., Hu, C., Na, J., Goldgar, D. E., Fulk, K., Smith, L. P., Horton, C., Profato, J., Pesaran, T., Gau, C. L., Pronold, M., Davis, B. T., Chao, E. C., Couch, F. J., & 1 othersDolinsky, J. S., Feb 1 2020, In: Genetics in Medicine. 22, 2, p. 407-415 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    33 Scopus citations
  • Open Access
  • A Collaborative Survey of 80 Mutations in the BRCA1 Breast and Ovarian Cancer Susceptibility Gene: Implications for Presymptomatic Testing and Screening

    Shattuck Eidens, D., Mcclure, M., Simard, J., Labrie, F., Narod, S., Couch, F., Hoskins, K., Weber, B., Castilla, L., Erdos, M., Brody, L., Friedman, L., Ostermeyer, E., Szabo, C., King, M. C., Jhanwar, S., Offit, K., Norton, L., Gilewski, T., Lubin, M., & 22 othersOsborne, M., Black, D., Boyd, M., Steel, M., Ingles, S., Haile, R., Lindblom, A., Olsson, H., Borg, A., Bishop, D. T., Solomon, E., Radice, P., Spatti, G., Gayther, S., Ponder, B., Warren, W., Stratton, M., Liu, Q., Fujimura, F., Lewis, C., Skolnick, M. H. & Goldgar, D. E., Feb 1995, In: JAMA: The Journal of the American Medical Association. 273, 7, p. 535-541 7 p.

    Research output: Contribution to journalArticlepeer-review

    405 Scopus citations
  • A common coding variant in CASP8 is associated with breast cancer risk

    Cox, A., Dunning, A. M., Garcia-Closas, M., Balasubramanian, S., Reed, M. W. R., Pooley, K. A., Scollen, S., Baynes, C., Ponder, B. A. J., Chanock, S., Lissowska, J., Brinton, L., Peplonska, B., Southey, M. C., Hopper, J. L., McCredie, M. R. E., Giles, G. G., Fletcher, O., Johnson, N., Dos Santos Silva, I., & 59 othersGibson, L., Bojesen, S. E., Nordestgaard, B. G., Axelsson, C. K., Torres, D., Hamann, U., Justenhoven, C., Brauch, H., Chang-Claude, J., Kropp, S., Risch, A., Wang-Gohrke, S., Schürmann, P., Bogdanova, N., Dörk, T., Fagerholm, R., Aaltonen, K., Blomqvist, C., Nevanlinna, H., Seal, S., Renwick, A., Stratton, M. R., Rahman, N., Sangrajrang, S., Hughes, D., Odefrey, F., Brennan, P., Spurdle, A. B., Chenevix-Trench, G., Beesley, J., Mannermaa, A., Hartikainen, J., Kataja, V., Kosma, V. M., Couch, F. J., Olson, J. E., Goode, E. L., Broeks, A., Schmidt, M. K., Hogervorst, F. B. L., Veer, L. J. V. T., Kang, D., Yoo, K. Y., Noh, D. Y., Ahn, S. H., Wedrén, S., Hall, P., Low, Y. L., Liu, J., Milne, R. L., Ribas, G., Gonzalez-Neira, A., Benitez, J., Sigurdson, A. J., Stredrick, D. L., Alexander, B. H., Struewing, J. P., Pharoah, P. D. P. & Easton, D. F., Mar 2007, In: Nature Genetics. 39, 3, p. 352-358 7 p.

    Research output: Contribution to journalArticlepeer-review

    425 Scopus citations
  • A common variant at the TERT-CLPTM1L locus is associated with estrogen receptorĝ€"negative breast cancer

    Haiman, C. A., Chen, G. K., Vachon, C. M., Canzian, F., Dunning, A., Millikan, R. C., Wang, X., Ademuyiwa, F., Ahmed, S., Ambrosone, C. B., Baglietto, L., Balleine, R., Bandera, E. V., Beckmann, M. W., Berg, C. D., Bernstein, L., Blomqvist, C., Blot, W. J., Brauch, H., Buring, J. E., & 110 othersCarey, L. A., Carpenter, J. E., Chang-Claude, J., Chanock, S. J., Chasman, D. I., Clarke, C. L., Cox, A., Cross, S. S., Deming, S. L., Diasio, R. B., Dimopoulos, A. M., Driver, W. R., Dünnebier, T., Durcan, L., Eccles, D., Edlund, C. K., Ekici, A. B., Fasching, P. A., Feigelson, H. S., Flesch-Janys, D., Fostira, F., Försti, A., Fountzilas, G., Gerty, S. M., Giles, G. G., Godwin, A. K., Goodfellow, P., Graham, N., Greco, D., Hamann, U., Hankinson, S. E., Hartmann, A., Hein, R., Heinz, J., Holbrook, A., Hoover, R. N., Hu, J. J., Hunter, D. J., Ingles, S. A., Irwanto, A., Ivanovich, J., John, E. M., Johnson, N., Jukkola-Vuorinen, A., Kaaks, R., Ko, Y. D., Kolonel, L. N., Konstantopoulou, I., Kosma, V. M., Kulkarni, S., Lambrechts, D., Lee, A. M., Marchand, L. L., Lesnick, T., Liu, J., Lindstrom, S., Mannermaa, A., Margolin, S., Martin, N. G., Miron, P., Montgomery, G. W., Nevanlinna, H., Nickels, S., Nyante, S., Olswold, C., Palmer, J., Pathak, H., Pectasides, D., Perou, C. M., Peto, J., Pharoah, P. D. P., Pooler, L. C., Press, M. F., Pylkäs, K., Rebbeck, T. R., Rodriguez-Gil, J. L., Rosenberg, L., Ross, E., Rüdiger, T., Silva, I. D. S., Sawyer, E., Schmidt, M. K., Schulz-Wendtland, R., Schumacher, F., Severi, G., Sheng, X., Signorello, L. B., Sinn, H. P., Stevens, K. N., Southey, M. C., Tapper, W. J., Tomlinson, I., Hogervorst, F. B. L., Wauters, E., Weaver, J., Wildiers, H., Winqvist, R., Berg, D. V. D., Wan, P., Xia, L. Y., Yannoukakos, D., Zheng, W., Ziegler, R. G., Siddiq, A., Slager, S. L., Stram, D. O., Easton, D., Kraft, P., Henderson, B. E. & Couch, F. J., Dec 2011, In: Nature Genetics. 43, 12, p. 1210-1214 5 p.

    Research output: Contribution to journalArticlepeer-review

    231 Scopus citations
  • 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
  • A comprehensive examination of CYP19 variation and breast density

    Olson, J. E., Ma, C. X., Pelleymounter, L. L., Schaid, D. J., Pankratz, V. S., Vierkant, R. A., Fredericksen, Z. S., Ingle, J. N., Wu, Y., Couch, F., Sellers, T. A., Weinshilboum, R. M. & Vachon, C. M., Mar 2007, In: Cancer Epidemiology Biomarkers and Prevention. 16, 3, p. 623-625 3 p.

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • A comprehensive examination of CYP19 variation and risk of breast cancer using two haplotype-tagging approaches

    Olson, J. E., Ingle, J. N., Ma, C. X., Pelleymounter, L. L., Schaid, D. J., Pankratz, V. S., Vierkant, R. A., Fredericksen, Z. S., Wu, Y., Couch, F. J., Vachon, C. M., Sellers, T. A. & Weinshilboum, R. M., Apr 2007, In: Breast Cancer Research and Treatment. 102, 2, p. 237-247 11 p.

    Research output: Contribution to journalArticlepeer-review

    29 Scopus citations
  • A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

    Iversen, E. S., Couch, F. J., Goldgar, D. E., Tavtigian, S. V. & Monteiro, A. N. A., Jun 2011, In: Cancer Epidemiology Biomarkers and Prevention. 20, 6, p. 1078-1088 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    37 Scopus citations
  • A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia

    Hogan, K., Couch, F., Powers, P. A. & Gregg, R. G., 1992, In: Anesthesia and analgesia. 75, 3, p. 441-448 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    34 Scopus citations
  • Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers

    Schmidt, M. K., Hogervorst, F., Van Hien, R., Cornelissen, S., Broeks, A., Adank, M. A., Meijers, H., Waisfisz, Q., Hollestelle, A., Schutte, M., Van Den Ouweland, A., Hooning, M., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Arndt, V., Bermisheva, M., Bogdanova, N. V., Bolla, M. K., & 64 othersBrauch, H., Brenner, H., Brüning, T., Burwinkel, B., Chang-Claude, J., Chenevix-Trench, G., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Dunning, A. M., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Galle, E., García-Closas, M., Giles, G. G., Haeberle, L., Hall, P., Hillemanns, P., Hopper, J. L., Jakubowska, A., John, E. M., Jones, M., Khusnutdinova, E., Knight, J. A., Kosma, V. M., Kristensen, V., Lee, A., Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Meindl, A., Milne, R. L., Muranen, T. A., Newcomb, P. A., Offit, K., Park-Simon, T. W., Peto, J., Pharoah, P. D. P., Robson, M., Rudolph, A., Sawyer, E. J., Schmutzler, R. K., Seynaeve, C., Soens, J., Southey, M. C., Spurdle, A. B., Surowy, H., Swerdlow, A., Tollenaar, R. A. E. M., Tomlinson, I., Trentham-Dietz, A., Vachon, C., Wang, Q., Whittemore, A. S., Ziogas, A., Van Der Kolk, L., Nevanlinna, H., Dörk, T., Bojesen, S. & Easton, D. F., Aug 10 2016, In: Journal of Clinical Oncology. 34, 23, p. 2750-2760 11 p.

    Research output: Contribution to journalArticlepeer-review

    82 Scopus citations
  • Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

    Kotsopoulos, J., Lubinski, J., Lynch, H. T., Klijn, J., Ghadirian, P., Neuhausen, S. L., Kim-Sing, C., Foulkes, W. D., Moller, P., Isaacs, C., Domchek, S., Randall, S., Offit, K., Tung, N., Ainsworth, P., Gershoni-Baruch, R., Eisen, A., Daly, M., Karlan, B., Saal, H. M., & 26 othersCouch, F., Pasini, B., Wagner, T., Friedman, E., Rennert, G., Eng, C., Weitzel, J., Sun, P., Narod, S. A., Garber, J., Gilchrist, D., Osborne, M., Fishman, D., Warner, E., McLennan, J., McKinnon, W., Merajver, S., Olsson, H., Provencher, D., Pasche, B., Evans, G., Meschino, W. S., Lemire, E., Chudley, A., Rayson, D. & Bellati, C., Oct 2007, In: Breast Cancer Research and Treatment. 105, 2, p. 221-228 8 p.

    Research output: Contribution to journalArticlepeer-review

    40 Scopus citations
  • A genome-wide association study to identify genetic susceptibility loci that modify ductal and lobular postmenopausal breast cancer risk associated with menopausal hormone therapy use: A two-stage design with replication

    Hein, R., Flesch-Janys, D., Dahmen, N., Beckmann, L., Lindström, S., Schoof, N., Czene, K., Mittelstraß, K., Illig, T., Seibold, P., Behrens, S., Humphreys, K., Li, J., Liu, J., Olson, J. E., Wang, X., Hankinson, S. E., Truong, T., Menegaux, F., Dos Santos Silva, I., & 17 othersJohnson, N., Chen, S. T., Yu, J. C., Ziogas, A., Kataja, V., Kosma, V. M., Mannermaa, A., Anton-Culver, H., Shen, C. Y., Brauch, H., Peto, J., Guénel, P., Kraft, P., Couch, F. J., Easton, D. F., Hall, P. & Chang-Claude, J., Apr 2013, In: Breast Cancer Research and Treatment. 138, 2, p. 529-542 14 p.

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • A genome wide linkage search for breast cancer susceptibility genes

    Smith, P., McGuffog, L., Easton, D. F., Mann, G. J., Pupo, G. M., Newman, B., Chenevix-Trench, G., Szabo, C., Southey, M., Renard, H., Odefrey, F., Lynch, H., Stoppa-Lyonnet, D., Couch, F., Hopper, J. L., Giles, G. G., McCredie, M. R. E., Buys, S., Andrulis, I., Senie, R., & 27 othersGoldgar, D. E., Oldenburg, R., Kroeze-Jansema, K., Kraan, J., Meijers-Heijboer, H., Klijn, J. G. M., Van Asperen, C., Van Leeuwen, I., Vasen, H. F. A., Cornelisse, C. J., Devilee, P., Baskcomb, L., Seal, S., Barfoot, R., Mangion, J., Hall, A., Edkins, S., Rapley, E., Wooster, R., Chang-Claude, J., Eccles, D., Evans, D. G., Futreal, P. A., Nathanson, K. L., Weber, B. L., Rahman, N. & Stratton, M. R., Jul 2006, In: Genes Chromosomes and Cancer. 45, 7, p. 646-655 10 p.

    Research output: Contribution to journalArticlepeer-review

    96 Scopus citations
  • A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis

    Rafiq, S., Khan, S., Tapper, W., Collins, A., Upstill-Goddard, R., Gerty, S., Blomqvist, C., Aittomäki, K., Couch, F. J., Liu, J., Nevanlinna, H. & Eccles, D., Dec 19 2014, In: PloS one. 9, 12, e101488.

    Research output: Contribution to journalArticlepeer-review

    18 Scopus citations
  • A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

    KConFab investigators, Australian Ovarian Cancer Study Group, GENICA-Network & TNBCC, Apr 1 2014, In: Human molecular genetics. 23, 7, p. 1934-1946 13 p.

    Research output: Contribution to journalArticlepeer-review

    24 Scopus citations
  • Alcohol consumption and breast tumor gene expression

    Wang, J., Heng, Y. J., Eliassen, A. H., Tamimi, R. M., Hazra, A., Carey, V. J., Ambrosone, C. B., de Andrade, V. P., Brufsky, A., Couch, F. J., King, T. A., Modugno, F., Vachon, C. M., Hunter, D. J., Beck, A. H. & Hankinson, S. E., Sep 12 2017, In: Breast Cancer Research. 19, 1, 108.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Scopus citations
  • Allele-specific expression in the germline of patients with familial pancreatic cancer: An unbiased approach to cancer gene discovery

    Aik, C. T., Fan, J. B., Karikari, C., Bibikova, M., Garcia, E. W., Zhou, L., Barker, D., Serre, D., Feldmann, G., Hruban, R. H., Klein, A. P., Goggins, M., Couch, F. J., Hudson, T. J., Winslow, R. L., Maitra, A. & Chakravarti, A., Jan 2008, In: Cancer Biology and Therapy. 7, 1, p. 137-146 10 p.

    Research output: Contribution to journalArticlepeer-review

    37 Scopus citations
  • A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

    Antoniou, A. C., Wang, X., Fredericksen, Z. S., McGuffog, L., Tarrell, R., Sinilnikova, O. M., Healey, S., Morrison, J., Kartsonaki, C., Lesnick, T., Ghoussaini, M., Barrowdale, D., Peock, S., Cook, M., Oliver, C., Frost, D., Eccles, D., Evans, D. G., Eeles, R., Izatt, L., & 158 othersChu, C., Douglas, F., Paterson, J., Stoppa-Lyonnet, D., Houdayer, C., Mazoyer, S., Giraud, S., Lasset, C., Remenieras, A., Caron, O., Hardouin, A., Berthet, P., Hogervorst, F. B. L., Rookus, M. A., Jager, A., Van Den Ouweland, A., Hoogerbrugge, N., Van Der Luijt, R. B., Meijers-Heijboer, H., G'mez García, E. B., Devilee, P., Vreeswijk, M. P. G., Lubinski, J., Jakubowska, A., Gronwald, J., Huzarski, T., Byrski, T., G'rski, B., Cybulski, C., Spurdle, A. B., Holland, H., Goldgar, D. E., John, E. M., Hopper, J. L., Southey, M., Buys, S. S., Daly, M. B., Terry, M. B., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Preisler-Adams, S., Arnold, N., Niederacher, D., Sutter, C., Domchek, S. M., Nathanson, K. L., Rebbeck, T., Blum, J. L., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Blank, S. V., Friedman, E., Kaufman, B., Laitman, Y., Milgrom, R., Andrulis, I. L., Glendon, G., Ozcelik, H., Kirchhoff, T., Vijai, J., Gaudet, M. M., Altshuler, D., Guiducci, C., Loman, N., Harbst, K., Rantala, J., Ehrencrona, H., Gerdes, A. M., Thomassen, M., Sunde, L., Peterlongo, P., Manoukian, S., Bonanni, B., Viel, A., Radice, P., Caldes, T., De La Hoya, M., Singer, C. F., Fink-Retter, A., Greene, M. H., Mai, P. L., Loud, J. T., Guidugli, L., Lindor, N. M., Hansen, T. V. O., Nielsen, F. C., Blanco, I., Lazaro, C., Garber, J., Ramus, S. J., Gayther, S. A., Phelan, C., Narod, S., Szabo, C. I., Benitez, J., Osorio, A., Nevanlinna, H., Heikkinen, T., Caligo, M. A., Beattie, M. S., Hamann, U., Godwin, A. K., Montagna, M., Casella, C., Neuhausen, S. L., Karlan, B. Y., Tung, N., Toland, A. E., Weitzel, J., Olopade, O., Simard, J., Soucy, P., Rubinstein, W. S., Arason, A., Rennert, G., Martin, N. G., Montgomery, G. W., Chang-Claude, J., Flesch-Janys, D., Brauch, H., Severi, G., Baglietto, L., Cox, A., Cross, S. S., Miron, P., Gerty, S. M., Tapper, W., Yannoukakos, D., Fountzilas, G., Fasching, P. A., Beckmann, M. W., Dos Santos Silva, I., Peto, J., Lambrechts, D., Paridaens, R., Rüdiger, T., Försti, A., Winqvist, R., Pylkäs, K., Diasio, R. B., Lee, A. M., Eckel-Passow, J., Vachon, C., Blows, F., Driver, K., Dunning, A., Pharoah, P. P. D., Offit, K., Pankratz, V. S., Hakonarson, H., Chenevix-Trench, G., Easton, D. F. & Couch, F. J., Oct 2010, In: Nature Genetics. 42, 10, p. 885-892 8 p.

    Research output: Contribution to journalArticlepeer-review

    253 Scopus citations
  • Altered expression of FANCL confers mitomycin C sensitivity in Calu-6 lung cancer cells

    Zhang, J., Wang, X., Lin, C. J., Couch, F. J. & Fei, P., Dec 2006, In: Cancer Biology and Therapy. 5, 12, p. 1632-1636 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    23 Scopus citations
  • A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

    Australian Breast Cancer Tissue Bank Investigators, Dec 15 2012, In: Human molecular genetics. 21, 24, p. 5373-5384 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    135 Scopus citations
  • Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

    Stacey, S. N., Sulem, P., Zanon, C., Gudjonsson, S. A., Thorleifsson, G., Helgason, A., Jonasdottir, A., Besenbacher, S., Kostic, J. P., Fackenthal, J. D., Huo, D., Adebamowo, C., Ogundiran, T., Olson, J. E., Fredericksen, Z. S., Wang, X., Look, M. P., Sieuwerts, A. M., Martens, J. W. M., Pajares, I., & 41 othersGarcia-Prats, M. D., Ramon-Cajal, J. M., de Juan, A., Panadero, A., Ortega, E., Aben, K. K. H., Vermeulen, S. H., Asadzadeh, F., Anton van Engelenburg, K. C., Margolin, S., Shen, C. Y., Wu, P. E., Försti, A., Lenner, P., Henriksson, R., Johansson, R., Enquist, K., Hallmans, G., Jonsson, T., Sigurdsson, H., Alexiusdottir, K., Gudmundsson, J., Sigurdsson, A., Frigge, M. L., Gudmundsson, L., Kristjansson, K., Halldorsson, B. V., Styrkarsdottir, U., Gulcher, J. R., Hemminki, K., Lindblom, A., Kiemeney, L. A., Mayordomo, J. I., Foekens, J. A., Couch, F. J., Olopade, O. I., Gudbjartsson, D. F., Thorsteinsdottir, U., Rafnar, T., Johannsson, O. T. & Stefansson, K., Jul 2010, In: PLoS genetics. 6, 7, p. 1-12 12 p.

    Research output: Contribution to journalArticlepeer-review

    71 Scopus citations
  • A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

    Escala-Garcia, M., Abraham, J., Andrulis, I. L., Anton-Culver, H., Arndt, V., Ashworth, A., Auer, P. L., Auvinen, P., Beckmann, M. W., Beesley, J., Behrens, S., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Børresen-Dale, A. L., Brauch, H., & 125 othersBrenner, H., Brucker, S. Y., Burwinkel, B., Caldas, C., Canzian, F., Chang-Claude, J., Chanock, S. J., Chin, S. F., Clarke, C. L., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., Dennis, J., Devilee, P., Dunn, J. A., Dunning, A. M., Dwek, M., Earl, H. M., Eccles, D. M., Eliassen, A. H., Ellberg, C., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Gago-Dominguez, M., Gapstur, S. M., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., George, A., Giles, G. G., Goldgar, D. E., González-Neira, A., Grip, M., Guénel, P., Guo, Q., Haiman, C. A., Håkansson, N., Hamann, U., Harrington, P. A., Hiller, L., Hooning, M. J., Hopper, J. L., Howell, A., Huang, C. S., Huang, G., Hunter, D. J., Jakubowska, A., John, E. M., Kaaks, R., Kapoor, P. M., Keeman, R., Kitahara, C. M., Koppert, L. B., Kraft, P., Kristensen, V. N., Lambrechts, D., Le Marchand, L., Lejbkowicz, F., Lindblom, A., Lubiński, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M. E., Maurer, T., Mavroudis, D., Meindl, A., Milne, R. L., Mulligan, A. M., Neuhausen, S. L., Nevanlinna, H., Newman, W. G., Olshan, A. F., Olson, J. E., Olsson, H., Orr, N., Peterlongo, P., Petridis, C., Prentice, R. L., Presneau, N., Punie, K., Ramachandran, D., Rennert, G., Romero, A., Sachchithananthan, M., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Schwentner, L., Scott, C., Simard, J., Sohn, C., Southey, M. C., Swerdlow, A. J., Tamimi, R. M., Tapper, W. J., Teixeira, M. R., Terry, M. B., Thorne, H., Tollenaar, R. A. E. M., Tomlinson, I., Troester, M. A., Truong, T., Turnbull, C., Vachon, C. M., van der Kolk, L. E., Wang, Q., Winqvist, R., Wolk, A., Yang, X. R., Ziogas, A., Pharoah, P. D. P., Hall, P., Wessels, L. F. A., Chenevix-Trench, G., Bader, G. D., Dörk, T., Easton, D. F., Canisius, S. & Schmidt, M. K., Dec 1 2020, In: Nature communications. 11, 1, 312.

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    Open Access
    12 Scopus citations
  • An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

    Iversen, E. S., Lipton, G., Hart, S. N., Lee, K. Y., Hu, C., Polley, E. C., Pesaran, T., Yussuf, A., LaDuca, H., Chao, E., Karam, R., Goldgar, D. E., Couch, F. J. & Monteiro, A. N. A., Dec 2022, In: npj Genomic Medicine. 7, 1, 35.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

    The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, KConFab investigators, KConFab investigators, Australian Ovarian Cancer Study Group & The GENICA Network, Sep 1 2016, In: Human molecular genetics. 25, 17, p. 3863-3876 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    18 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
  • A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

    Ding, Y. C., McGuffog, L., Healey, S., Friedman, E., Laitman, Y., Shimon, S. P., Kaufman, B., Liljegren, A., Lindblom, A., Olsson, H., Kristoffersson, U., Stenmark-Askmalm, M., Melin, B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., & 141 othersGronwald, J., Huzarski, T., Cybulski, C., Byrski, T., Osorio, A., Cajal, T. R., Stavropoulou, A. V., Benítez, J., Hamann, U., Rookus, M., Aalfs, C. M., De Lange, J. L., Meijers-Heijboer, H. E. J., Oosterwijk, J. C., Van Asperen, C. J., Gómez García, E. B., Hoogerbrugge, N., Jager, A., Van Der Luijt, R. B., Easton, D. F., Peock, S., Frost, D., Ellis, S. D., Platte, R., Fineberg, E., Evans, D. G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Eccles, D., Cole, T., Cook, J., Brewer, C., Tischkowitz, M., Godwin, A. K., Pathak, H., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Barjhoux, L., Léoné, M., Gauthier-Villars, M., Caux-Moncoutier, V., De Pauw, A., Hardouin, A., Berthet, P., Dreyfus, H., Ferrer, S. F., Collonge-Rame, M. A., Sokolowska, J., Buys, S., Daly, M., Miron, A., Terry, M. B., Chung, W., John, E. M., Southey, M., Goldgar, D., Singer, C. F., Tea, M. K. M., Gschwantler-Kaulich, D., Fink-Retter, A., Hansen, T. V. O., Ejlertsen, B., Johannsson, O. T., Offi, K., Sarrel, K., Gaudet, M. M., Vijai, J., Robson, M., Piedmonte, M. R., Andrews, L., Cohn, D., DeMars, L. R., DiSilvestro, P., Rodriguez, G., Toland, A. E., Montagna, M., Agata, S., Imyanitov, E., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Ramus, S. J., Sucheston, L., Karlan, B. Y., Gross, J., Ganz, P. A., Beattie, M. S., Schmutzler, R. K., Wappenschmidt, B., Meindl, A., Arnold, N., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Nevanlinna, H., Aittomäki, K., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Tomlinson, G. E., Weitzel, J., Garber, J. E., Olopade, O. I., Rubinstein, W. S., Tung, N., Blum, J. L., Narod, S. A., Brummel, S., Gillen, D. L., Lindor, N., Fredericksen, Z., Pankratz, V. S., Couch, F. J., Radice, P., Peterlongo, P., Greene, M. H., Loud, J. T., Mai, P. L., Andrulis, I. L., Glendon, G., Ozcelik, H., Gerdes, A. M., Thomassen, M., Jensen, U. B., Skytte, A. B., Caligo, M. A., Lee, A., Chenevix-Trench, G., Antoniou, A. C. & Neuhausen, S. L., Aug 2012, In: Cancer Epidemiology Biomarkers and Prevention. 21, 8, p. 1362-1370 9 p.

    Research output: Contribution to journalArticlepeer-review

    17 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 novel automated mammographic density measure and breast cancer risk

    Heine, J. J., Scott, C. G., Sellers, T. A., Brandt, K. R., Serie, D. J., Wu, F. F., Morton, M. J., Schueler, B. A., Couch, F. J., Olson, J. E., Pankratz, V. S. & Vachon, C. M., Jul 3 2012, In: Journal of the National Cancer Institute. 104, 13, p. 1028-1037 10 p.

    Research output: Contribution to journalArticlepeer-review

    54 Scopus citations
  • Antimullerian Hormone as a Serum Biomarker for Risk of Chemotherapy-Induced Amenorrhea

    Ruddy, K. J., Schaid, D. J., Batzler, A., Cecchini, R. S., Partridge, A. H., Norman, A., Fehrenbacher, L., Stewart, E. A., Trabuco, E., Ginsburg, E., Couch, F. J., Fasching, P. A., Vachon, C. & Ganz, P. A., Aug 1 2021, In: Journal of the National Cancer Institute. 113, 8, p. 1105-1108 4 p.

    Research output: Contribution to journalArticlepeer-review

  • 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 population-based study of genes previously implicated in breast cancer

    Hu, C., Hart, S. N., Gnanaolivu, R., Huang, H., Lee, K. Y., Na, J., Gao, C., Lilyquist, J., Yadav, S., Boddicker, N. J., Samara, R., Klebba, J., Ambrosone, C. B., Anton-Culver, H., Auer, P., Bandera, E. V., Bernstein, L., Bertrand, K. A., Burnside, E. S., Carter, B. D., & 40 othersEliassen, H., Gapstur, S. M., Gaudet, M., Haiman, C., Hodge, J. M., Hunter, D. J., Jacobs, E. J., John, E. M., Kooperberg, C., Kurian, A. W., Le Marchand, L., Lindstroem, S., Lindstrom, T., Ma, H., Neuhausen, S., Newcomb, P. A., O'Brien, K. M., Olson, J. E., Ong, I. M., Pal, T., Palmer, J. R., Patel, A. V., Reid, S., Rosenberg, L., Sandler, D. P., Scott, C., Tamimi, R., Taylor, J. A., Trentham-Dietz, A., Vachon, C. M., Weinberg, C., Yao, S., Ziogas, A., Weitzel, J. N., Goldgar, D. E., Domchek, S. M., Nathanson, K. L., Kraft, P., Polley, E. C. & Couch, F. J., Feb 4 2021, In: New England Journal of Medicine. 384, 5, p. 440-451 12 p.

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    Open Access
    23 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
  • A rare TP53 mutation predominant in ashkenazi jews confers risk of multiple cancers

    Powers, J., Pinto, E. M., Barnoud, T., Leung, J. C., Martynyuk, T., Kossenkov, A. V., Philips, A. H., Desai, H., Hausler, R., Kelly, G., Le, A. N., Li, M. M., MacFarland, S. P., Pyle, L. C., Zelley, K., Nathanson, K. L., Domchek, S. M., Slavin, T. P., Weitzel, J. N., Stopfer, J. E., & 16 othersGarber, J. E., Joseph, V., Offit, K., Dolinsky, J. S., Gutierrez, S., McGoldrick, K., Couch, F. J., Levin, B., Edelman, M. C., Levy, C. F., Spunt, S. L., Kriwacki, R. W., Zambetti, G. P., Ribeiro, R. C., Murphy, M. E. & Maxwell, K. N., Sep 1 2020, In: Cancer research. 80, 17, p. 3732-3744 13 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • A recurrent ERCC3 truncating mutation confers moderate risk for breast cancer

    Vijai, J., Topka, S., Villano, D., Ravichandran, V., Maxwell, K. N., Maria, A., Thomas, T., Gaddam, P., Lincoln, A., Kazzaz, S., Wenz, B., Carmi, S., Schrader, K. A., Hart, S. N., Lipkin, S. M., Neuhausen, S. L., Walsh, M. F., Zhang, L., Lejbkowicz, F., Rennert, H., & 10 othersStadler, Z. K., Robson, M., Weitzel, J. N., Domchek, S., Daly, M. J., Couch, F. J., Nathanson, K. L., Norton, L., Rennert, G. & Offit, K., Nov 2016, In: Cancer discovery. 6, 11, p. 1267-1275 9 p.

    Research output: Contribution to journalArticlepeer-review

    27 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
  • Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: A combined case-control study

    Milne, R. L., Gaudet, M. M., Spurdle, A. B., Fasching, P. A., Couch, F. J., Benítez, J., Arias Pérez, J. I., Zamora, M. P., Malats, N., dos Santos Silva, I., Gibson, L. J., Fletcher, O., Johnson, N., Anton-Culver, H., Ziogas, A., Figueroa, J., Brinton, L., Sherman, M. E., Lissowska, J., Hopper, J. L., & 64 othersDite, G. S., Apicella, C., Southey, M. C., Sigurdson, A. J., Linet, M. S., Schonfeld, S. J., Freedman, D. M., Mannermaa, A., Kosma, V. M., Kataja, V., Auvinen, P., Andrulis, I. L., Glendon, G., Knight, J. A., Weerasooriya, N., Cox, A., Reed, M. W. R., Cross, S. S., Dunning, A. M., Ahmed, S., Shah, M., Brauch, H., Ko, Y. D., Brüning, T., Brauch, H., Lambrechts, D., Reumers, J., Smeets, A., Wang-Gohrke, S., Hall, P., Czene, K., Liu, J., Irwanto, A. K., Chenevix-Trench, G., Holland, H., Fab, K. C., Giles, G. G., Baglietto, L., Severi, G., Bojensen, S. E., Nordestgaard, B. G., Flyger, H., John, E. M., West, D. W., Whittemore, A. S., Vachon, C., Olson, J. E., Fredericksen, Z., Kosel, M., Hein, R., Vrieling, A., Flesch-Janys, D., Heinz, J., Beckmann, M. W., Heusinger, K., Ekici, A. B., Haeberle, L., Humphreys, M. K., Morrison, J., Easton, D. F., Pharoah, P. D., García-Closas, M., Goode, E. L. & Chang-Claude, J., Dec 31 2010, In: Breast Cancer Research. 12, 6, R110.

    Research output: Contribution to journalArticlepeer-review

    73 Scopus citations
  • Assessment of hepatocyte growth factor in ovarian cancer mortality

    Goode, E. L., Chenevix-Trench, G., Hartmann, L. C., Fridley, B. L., Kalli, K. R., Vierkant, R. A., Larson, M. C., White, K. L., Keeney, G. L., Oberg, T. N., Cunningham, J. M., Beesley, J., Johnatty, S. E., Chen, X., Goodman, K. E., Armasu, S. M., Rider, D. N., Sicotte, H., Schmidt, M. M., Elliott, E. A., & 22 othersHøgdall, E., Kjær, S. K., Fasching, P. A., Ekici, A. B., Lambrechts, D., Despierre, E., Høgdall, C., Lundvall, L., Karlan, B. Y., Gross, J., Brown, R., Chien, J., Duggan, D. J., Tsai, Y. Y., Phelan, C. M., Kelemen, L. E., Peethambaram, P. P., Schildkraut, J. M., Shridhar, V., Sutphen, R., Couch, F. J. & Sellers, T. A., Aug 2011, In: Cancer Epidemiology Biomarkers and Prevention. 20, 8, p. 1638-1648 11 p.

    Research output: Contribution to journalArticlepeer-review

    30 Scopus citations
  • Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

    Nepomuceno, T. C., dos Santos, A. P. P., Fernandes, V. C., Elias, A. B. R., Gomes, T. T., Suarez-Kurtz, G., Iversen, E. S., Couch, F. J., Monteiro, A. N. A. & Carvalho, M. A., Dec 2022, In: Scientific reports. 12, 1, 16203.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

    Guidugli, L., Shimelis, H., Masica, D. L., Pankratz, V. S., Lipton, G. B., Singh, N., Hu, C., Monteiro, A. N. A., Lindor, N. M., Goldgar, D. E., Karchin, R., Iversen, E. S. & Couch, F. J., Feb 1 2018, In: American journal of human genetics. 102, 2, p. 233-248 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    31 Scopus citations
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