Melissa Southey

Professor

Accepting PhD Students

1990 …2024
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Research Output 1990 2019

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Article
2011

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 journalArticleResearchpeer-review

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

Haiman, C. A., Chen, G. K., Vachon, C. M., Canzian, F., Dunning, A. M., 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 Halverson, S. L., Diasio, R. B., Dimopoulos, M. A., Driver, W. R., Dünnebier, T., Durcan, L., Eccles, D. M., 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. J., 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. K., Ivanovich, J., John, E. M., Johnson, N., Jukkola-Vuorinen, A., Kaaks, R. J., 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. J., Olswold, C., Palmer, J. R., 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. J., 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. P., Hogervorst, F. B. L., Wauters, E., Weaver, J., Wildiers, H., Winqvist, R., Van Den Berg, D., Wan, P., Xia, L. Y., Yannoukakos, D., Zheng, W., Ziegler, R. G., Siddiq, A., Slager, S. L., Stram, D. O., Easton, D. T., Kraft, P., Henderson, B. E. & Couch, F. J., Dec 2011, In : Nature Genetics. 43, 12, p. 1210-1214 5 p.

Research output: Contribution to journalArticleResearchpeer-review

A genome-wide linkage study of mammographic density, a risk factor for breast cancer

Greenwood, C. M. T., Paterson, A. D., Linton, L., Andrulis, I. L., Apicella, C., Dimitromanolakis, A., Kriukov, V., Martin, L. J., Salleh, A., Samiltchuk, E., Parekh, R. V., Southey, M. C., John, E. M., Hopper, J. L., Boyd, N. F. & Rommens, J. M., 21 Dec 2011, In : Breast Cancer Research. 13, 6, 13 p., R132.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

A role for XRCC2 gene polymorphisms in breast cancer risk and survival

Lin, Y-W., Camp, N. J., Cannon-Albright, L. A., Allen-Brady, K., Balasubramanian, S. P., Reed, M. W. R., Hopper, J. L., Apicella, C., Giles, G. G., Southey, M. C., Milne, R. L., Arias-Perez, J. I., Menendez-Rodriguez, P., Benitez, J., Grundmann, M., Dubrowinskaja, N., Park-Simon, T-W., Dork, T., Garcia-Closas, M., Figueroa, J. D. & 11 othersSherman, M. E., Lissowska, J., Easton, D. F., Dunning, A. M., Rajaraman, P., Sigurdson, A. J., Doody, M., Linet, M. S., Pharoah, P. D. P., Schmidt, M. K. & Cox, A., Jul 2011, In : Journal of Medical Genetics. 48, 7, p. 477-484 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the Breast Cancer Association Consortium studies

Yang, X., Chang-Claude, J., Goode, E., Couch, F., Nevanlinna, H., Milne, R., Gaudet, M., Schmidt, M., Broeks, A., Cox, A., Fasching, P. A., Hein, R., Spurdle, A. B., Blows, F., Driver, K., Flesch-Janys, D., Heinz, J., Sinn, P., Vrieling, A., Heikkinen, T. & 154 othersAittomaki, K., Heikkila, P., Blomqvist, C., Lissowksa, J., Peplonska, B., Chanock, S., Figueroa, J., Brinton, L., Hall, P., Czene, K., Humphreys, K., Darabi, H., Liu, J., Van 't Veer, L., van Leeuwen, F. E., Andrulis, I., Glendon, G., Knight, J. A., Mulligan, A., O'Malley, F., Weerasooriya, N., John, E. M., Beckman, M., Hartmann, A., Weihbrecht, S., Wachter, D., Jud, S., Loehberg, C., Baglietto, L., English, D., Giles, G., McLean, C. A., Severi, G., Lambrechts, D., Vandorpe, T., Weltens, C., Paridaens, R., Smeets, A., Neven, P., Wildiers, H., Wang, X., Olsen, J., Cafourek, V., Fredericksen, Z., Kosel, M., Vachon, C., Cramp, H., Connley, D., Cross, S., Balasubramanian, S., Reed, M., Dork, T., Bremer, M., Meyer, A., Krastens, J., Ay, A., Park-Simon, T-W., Hillemanns, P., Perez, J., Rodriguez, P., Zamora, P., Benitez, J., Ko, Y-D., Fischer, H-P., Hamann, U., Pesch, B., Bruning, T., Justenhoven, C., Brauch, H., Eccles, D. M., Tapper, W. J., Gerty, S. M., Sawyer, E. J., Tomlinson, I. P., Jones, A., Kerin, M., Miller, N., McInerney, N., Anton-Culver, H., Ziogas, A., Shen, C-Y., Hsiung, C-N., Wu, P-E., Yang, S-L., Yu, J-C., Chen, S-T., Hsu, G-C., Haiman, C. A., Henderson, B. E., Le Marchand, L., Kolonel, L. N., Lindblom, A., Margolin, S., Jakubowska, A., Lubinski, J., Huzarski, T., Byrski, T., Gorski, B., Gronwald, J., Hooning, M. J., Hollestelle, A., van den Ouweland, A. M. W., Jager, A., Kriege, M., Tilanus-Linthorst, M. M. A., Collee, M., Wang-Gohrke, S., Pylkas, K., Jukkola-Vuorinen, A., Mononen, K., Grip, M., Hirvikoski, P., Wingvist, R., Mannermaa, A., Kosma, V-M., Kauppinen, J., Kataja, V., Auvinen, P., Soini, Y., Sironen, R., Bojesen, S. E., Orsted, D. D., Kaur-Knudsen, D., Flyger, H., Nordestgaard, B. G., Holland, H., Chenevix-Trench, G., Manoukian, S., Barile, M., Radice, P., Hankinson, S. E., Hunter, D. J., Tamimi, R., Sangrajrang, S., Brennan, P., McKay, J., Odefrey, F., Gaborieau, V., Devilee, P., Huijts, P. E. A., Tollenaar, R. A. E. M., Seynaeve, G., Dite, G. S., Apicella, C., Hopper, J. L., Hammet, F., Tsimiklis, H., Smith, L., Southey, M. C., Humphreys, M. K., Easton, D. F., Pharoah, P. D., Sherman, M. E. & Garcia-Closas, M., 2011, In : Journal of the National Cancer Institute. 103, 3, p. 250 - 263 14 p.

Research output: Contribution to journalArticleResearchpeer-review

Associations of common variants at 1p11.2 and 14q24.1 (RAD51l1) with breast cancer risk and heterogeneity by tumor subtype: Findings from the Breast Cancer Association Consortium

Figueroa, J. D., Garcia-Closas, M., Humphreys, M., Platte, R., Hopper, J. L., Southey, M. C., Apicella, C., Hammet, F., Schmidt, M. K., Broeks, A., Tollenaar, R. A. E. M., Van't Veer, L. J., Fasching, P. A., Beckmann, M. W., Ekici, A. B., Strick, R., Peto, J., Silva, I. D. S., Fletcher, O., Johnson, N. & 138 othersSawyer, E. J., Tomlinson, I. P., Kerin, M., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Bojesen, S. E., Flyger, H., Nordestgaard, B. G., Benítez, J., Milne, R. L., Arias, J. I., Zamora, P. M., Brenner, H., Müller, H., Arndt, V., Rahman, N., Turnbull, C., Seal, S., Renwick, A., Brauch, H., Justenhoven, C., Brüning, T., Ko, Y-D., Baisch, C., Fischer, H. P., Hamann, U., Pesch, B., Rabstein, S., Harth, V., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C., Bogdanova, N., Antonenkova, N., Rogov, Y. I., Karstens, J. H., Bermisheva, M., Prokofieva, D., Gantcev, S. H., Khusnutdinova, E., Lindblom, A., Margolin, S., Chenevix-Trench, G., Beesley, J., Chen, X., Bowtell, D. D. L., Chenevix-Trench, G., DeFazio, A., Gertig, D. M., Green, A., Webb, P. M., Mannermaa, A., Kosma, V-M., Soini, Y., Kataja, V., Lambrechts, D., Yesilyurt, B. T., Chrisiaens, M. R., Peeters, S., Radice, P., Peterlongo, P., Manoukian, S., Barile, M., Couch, F. J., Lee, A. M., Diasio, R. B., Wang, X., Giles, G. G., Severi, G., Baglietto, L., Maclean, C., Offit, K., Robson, M. E., Joseph, V., Gaudet, M. M., John, E. M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I. L., Knight, J. A., Mulligan, A. M., O'Malley, F. P., Brinton, L. A., Sherman, M. E., Lissowska, J., Chanock, S. J., Hooning, M. J., Martens, J. W. M., van den Ouweland, A. M. W., Collée, J. M., Hall, P., Czene, K., Cox, A., Brock, I. W., Reed, M. W. R., Cross, S. S., Pharoah, P. D. P., Dunning, A. M., Kang, D., Yoo, K-Y., Noh, D-Y., Ahn, S. H., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Shen, C-Y., Ding, S. L., Hsu, H. M., Yu, J-C., Anton-Culver, H., Ziogas, A., Ashworth, A., Swerdlow, A. J., Jones, M., Orr, N., Trentham-Dietz, A., Egan, K., Newcomb, P. A., Titus-Ernstoff, L., Easton, D. & Spurdle, A. B., Dec 2011, In : Human Molecular Genetics. 20, 23, p. 4693-4706 14 p., ddr368.

Research output: Contribution to journalArticleResearchpeer-review

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers

Win, A. K., Dowty, J. G., Antill, Y. C., English, D. R., Baron, J. A., Young, J. P., Giles, G. G., Southey, M. C., Winship, I., Lipton, L., Parry, S., Thibodeau, S. N., Haile, R. W. C., Gallinger, S., Le Marchand, L., Lindor, N. M., Newcomb, P. A., Hopper, J. L. & Jenkins, M. A., Apr 2011, In : Obstetrics and Gynecology. 117, 4, p. 899-905 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: Findings from the breast cancer family registry

Kurian, A. W., Gong, G. D., John, E. M., Johnston, D. A., Felberg, A., West, D. W., Miron, A., Andrulis, I. L., Hopper, J. L., Knight, J. A., Ozcelik, H., Dite, G. S., Apicella, C., Southey, M. C. & Whittemore, A. S., 1 Dec 2011, In : Journal of Clinical Oncology. 29, 34, p. 4505-4509 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer

Win, A. K., Cleary, S. P., Dowty, J. G., Baron, J. A., Young, J. P., Buchanan, D. D., Southey, M. C., Burnett, T., Parfrey, P. S., Green, R. C., Marchand, L. L., Newcomb, P. A., Haile, R. W., Lindor, N. M., Hopper, J. L., Gallinger, S. & Jenkins, M. A., 1 Nov 2011, In : International Journal of Cancer. 129, 9, p. 2256-2262 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

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. & 163 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. & HeBon, 2 Nov 2011, In : Breast Cancer Research. 13, 6, 20 p., R110.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Glendon, G., Selander, T., Weerasooriya, N., Thomassen, M., Gerdes, A. M., Caligo, M. A. & 93 othersFriedman, E., Laitman, Y., Kaufman, B., Paluch, S. S., Borg, Å., Karlsson, P., Askmalm, M. S., Bustinza, G. B., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benítez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, L. D., Paterson, J., Eason, J., Godwin, A. K., Remon, M. A., Moncoutier, V., Gauthier-Villars, M., Lasset, C., Giraud, S., Hardouin, A., Berthet, P., Sobol, H., Eisinger, F., de Paillerets, B. B., Caron, O., Delnatte, C., Goldgar, D., Miron, A., Ozcelik, H., Buys, S., Southey, M. C., Terry, M. B., Singer, C. F., Dressler, A. C., Tea, M. K., Hansen, T. V. O., Johannsson, O., Piedmonte, M., Rodriguez, G. C., Basil, J. B., Blank, S., Toland, A. E., Montagna, M., Isaacs, C., Blanco, I., Gayther, S. A., Moysich, K. B., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Sutter, C., Gadzicki, D., Fiebig, B., Caldes, T., Laframboise, R., Nevanlinna, H., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Peterlongo, P., Manoukian, S., Bernard, L., Radice, P., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Stoppa-Lyonnet, D., Mazoyer, S., Sinilnikova, O. M. & on behalf of the Consortium of Investigators of Modifiers of BRCA1/2, 1 Dec 2011, In : Human Molecular Genetics. 20, 23, p. 4732-4747 16 p., ddr388.

Research output: Contribution to journalArticleResearchpeer-review

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

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

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer

Wong, E. M., Southey, M. C., Fox, S. B., Brown, M. A., Dowty, J. G., Jenkins, M. A., Giles, G. G., Hopper, J. L. & Dobrovic, A., Jan 2011, In : Cancer Prevention Research. 4, 1, p. 23-33 11 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: A report from The Breast Cancer Family Registry

Smith, L. D., Tesoriero, A. A., Wong, E. M., Ramus, S. J., O'Malley, F. P., Mulligan, A. M., Terry, M. B., Senie, R. T., Santella, R. M., John, E. M., Andrulis, I. L., Ozcelik, H., Daly, M. B., Godwin, A. K., Buys, S. S., Fox, S., Goldgar, D. E., Giles, G. G., Hopper, J. L. & Southey, M. C., 31 Jan 2011, In : Breast Cancer Research. 13, 1, R14.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes

Van Vliet, C. M., Dowty, J. G., Van Vliet, J. L., Smith, L., Mead, L. J., Macrae, F. A., St. John, D. J. B., Giles, G. G., Southey, M. C., Jenkins, M. A., Velan, G. M. & Hopper, J. L., Feb 2011, In : Human Mutation. 32, 2, p. 207-212 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Design considerations for massively parallel sequencing studies of complex human disease

Feng, B. J., Tavtigian, S. V., Southey, M. C. & Goldgar, D. E., 10 Aug 2011, In : PLoS ONE. 6, 8, e23221.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Detecting differential allelic expression using high-resolution melting curve analysis: Application to the breast cancer susceptibility gene CHEK2

Nguyen-Dumont, T., Jordheim, L. P., Michelon, J., Forey, N., McKay-Chopin, S., Sinilnikova, O., Le Calvez-Kelm, F., Southey, M. C., Tavtigian, S. V. & Lesueur, F., 2011, In : BMC Medical Genomics. 4, 10 p., 39.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

Stevens, K. N., Garcia-Closas, M., Fredericksen, Z., Kosel, M., Pankratz, V. S., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Van 't Veer, L. J., Tollenaar, R. A. E. M., Fasching, P. A., Beckmann, M. W., Hein, A., Ekici, A. B., Johnson, N., Peto, J., Dos Santos Silva, I. & 81 othersGibson, J. L., Sawyer, E., Tomlinson, I. P., Kerin, M. J., Chanock, S. J., Lissowska, J., Hunter, D. J., Hoover, R. N., Thomas, G. D., Milne, R. L., Pérez, J. A., González-Neira, A., Benítez, J., Burwinkel, B., Meindl, A., Schmutzler, R. K., Bartrar, C. R., Hamann, U., Ko, Y-D., Brüning, T., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Thilo Dörk, D., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N., Zalutsky, J. V., Rogov, Y. I., Antonenkova, N., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J., Chenevix-Trench, G., Chen, X., Peterlongo, P., Bonanni, B., Bernard, L., Manoukian, S., Wang, X., Cerhan, J. R., Vachon, C. M., Olson, J. E., Giles, G. G., Baglietto, L., McLean, C. A., Severi, G., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M. A., Cox, A., Brock, I. W., Elliott, T. G., Cross, S. S., Pharoah, P. D. P., Dunning, A. M., Pooley, K. A., Humphreys, M. K., Wang, J., Kang, D., Yoo, K-Y., Noh, D-Y., Sangrajrang, S., Gabrieau, V., Brennan, P., McKay, J., Anton-Culver, H., Ziogas, A. K., Couch, F. J. & Easton, D. F., 6 Dec 2011, In : British Journal of Cancer. 105, 12, p. 1934-1939 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Exploring the link between MORF4L1 and risk of breast cancer

Martrat, G., Maxwell, C. A., Tominaga, E., Porta-de-la-Riva, M., Bonifaci, N., Gómez-Baldó, L., Bogliolo, M., Lázaro, C., Blanco, I., Brunet, J., Aguilar, H., Fernández-Rodríguez, J., Seal, S., Renwick, A., Rahman, N., Kühl, J., Neveling, K., Schindler, D., Ramírez, M. J., Castellà, M. & 112 othersfor EMBRACE, Hernández, G., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Ong, K. R., Cook, J., Douglas, F., Hodgson, S., Brewer, C., Morrison, P. J., Porteous, M., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Pasini, B., Ottini, L., Putignano, A. L., Savarese, A., Bernard, L., Radice, P., Healey, S., Spurdle, A., Chen, X., Beesley, J., Rookus, M. A., Verhoef, S., Tilanus-Linthorst, M. A., Vreeswijk, M. P., Asperen, C. J., Bodmer, D., Ausems, M. G. E. M., van Os, T. A., Blok, M. J., Meijers-Heijboer, H. E. J., Hogervorst, F. B. L., for HEBON, Goldgar, D. E., Buys, S., John, E. M., Miron, A., Southey, M., Daly, M. B., for BCFR, for SWE-BRCA, Harbst, K., Borg, Å., Rantala, J., Barbany-Bustinza, G., Ehrencrona, H., Stenmark-Askmalm, M., Kaufman, B., Laitman, Y., Milgrom, R., Friedman, E., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Johannsson, O. T., Couch, F. J., Wang, X., Fredericksen, Z., Cuadras, D., Moreno, V., Pientka, F. K., Depping, R., Caldés, T., Osorio, A., Benítez, J., Bueren, J., Heikkinen, T., Nevanlinna, H., Hamann, U., Torres, D., Caligo, M. A., Godwin, A. K., Imyanitov, E. N., Janavicius, R., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Verny-Pierre, C., Castera, L., De Pauw, A., Bignon, Y. J., Uhrhammer, N., Peyrat, J. P., Vennin, P., Ferrer, S. F., Collonge-Rame, M. A., Mortemousque, I., McGuffog, L., Chenevix-Trench, G., Pereira-Smith, O. M., Antoniou, A. C., Cerón, J., Tominaga, K., Surrallés, J. & Pujana, M. A., 5 Apr 2011, In : Breast Cancer Research. 13, 2, 14 p., R40.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: No evidence for association with risk for breast cancer

Park, D. J., Odefrey, F. A., Hammet, F., Giles, G. G., Baglietto, L., Abcfs, McCs, Hopper, J. L., Schmidt, D. F., Makalic, E., Sinilnikova, O. M., Goldgar, D. E. & Southey, M. C., Dec 2011, In : Breast Cancer Research and Treatment. 130, 3, p. 1043-1049 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers

Schrader, K. A., Masciari, S., Boyd, N., Salamanca, C., Senz, J., Saunders, D. N., Yorida, E., Maines-Bandiera, S., Kaurah, P., Tung, N., Robson, M. E., Ryan, P. D., Olopade, O. I., Domchek, S. M., Ford, J., Isaacs, C., Brown, P., Balmana, J., Razzak, A. R., Miron, P. & 13 othersCoffey, K., Terry, M. B., John, E. M., Andrulis, I. L., Knight, J. A., O'Malley, F. P., Daly, M., Bender, P., Moore, R., Southey, M. C., Hopper, J. L., Garber, J. E. & Huntsman, D. G., 1 Jan 2011, In : Journal of Medical Genetics. 48, 1, p. 64-68 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Im, K. M., Kirchhoff, T., Wang, X., Green, T., Chow, C. Y., Vijai, J., Korn, J., Gaudet, M. M., Fredericksen, Z., Pankratz, V. S., Guiducci, C., Crenshaw, A., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Mai, P. L., Greene, M. H., Piedmonte, M. & 97 othersRubinstein, W. S., Hogervorst, F. B., Rookus, M. A., Collée, J. M., Hoogerbrugge, N., Van Asperen, C. J., Meijers-Heijboer, H. E. J., Van Roozendaal, C. E., Caldes, T., Perez-Segura, P., Jakubowska, A., Lubinski, J., Huzarski, T., Blecharz, P., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Barkardottir, R. B., Montagna, M., D'Andrea, E., Devilee, P., Olopade, O. I., Neuhausen, S. L., Peissel, B., Bonanni, B., Peterlongo, P., Singer, C. F., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Glendon, G., Ozcelik, H., Toland, A. E., Caligo, M. A., Beattie, M. S., Chan, S., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Phelan, C., Narod, S., John, E. M., Hopper, J. L., Buys, S. S., Daly, M. B., Southey, M. C., Terry, M. B., Tung, N., Hansen, T. V. O., Osorio, A., Benitez, J., Durán, M., Weitzel, J. N., Garber, J., Hamann, U., Peock, S., Cook, M., Oliver, C. T., Frost, D., Platte, R., Evans, D. G., Eeles, R., Izatt, L., Paterson, J., Brewer, C., Hodgson, S., Morrison, P. J., Porteous, M., Walker, L., Rogers, M. T., Side, L. E., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Laitman, Y., Meindl, A., Deissler, H., Varon-Mateeva, R., Preisler-Adams, S., Kast, K., Venat-Bouvet, L., Stoppa-Lyonnet, D., Chenevix-Trench, G., Easton, D. F., Klein, R. J., Daly, M. J., Friedman, E., Dean, M., Clark, A. G., Altshuler, D. M., Antoniou, A. C., Couch, F. J., Offit, K., Gold, B., HeBon & UKFOCR, 1 Nov 2011, In : Human Genetics. 130, 5, p. 685-699 15 p.

Research output: Contribution to journalArticleResearchpeer-review

Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript

Kote-Jarai, Z., Amin Al Olama, A., Leongamornlert, D., Tymrakiewicz, M., Saunders, E., Guy, M., Giles, G. G., Severi, G., Southey, M., Hopper, J. L., Sit, K. C., Harris, J. M., Batra, J., Spurdle, A. B., Clements, J. A., Hamdy, F. C., Neal, D., Donovan, J., Muir, K., Pharoah, P. D. P. & 11 othersChanock, S. J., Brown, N., Benlloch, S., Castro, E., Mahmud, N., O'Brien, L., Hall, A., Sawyer, E., Wilkinson, R., Easton, D. F. & Eeles, R. A., Jun 2011, In : Human Genetics. 129, 6, p. 687-694 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Image-guided sampling reveals increased stroma and lower glandular complexity in mammographically dense breast tissue

Lin, S. J., Cawson, J., Hill, P., Haviv, I., Jenkins, M., Hopper, J. L., Southey, M. C., Campbell, I. G. & Thompson, E. W., 1 Jul 2011, In : Breast Cancer Research and Treatment. 128, 2, p. 505-516 12 p.

Research output: Contribution to journalArticleResearchpeer-review

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Maxwell, C. A., Benítez, J., Gómez-Baldó, L., Osorio, A., Bonifaci, N., Fernández-Ramires, R., Costes, S. V., Guinó, E., Chen, H., Evans, G. J. R., Mohan, P., Català, I., Petit, A., Aguilar, H., Villanueva, A., Aytes, A., Serra-Musach, J., Rennert, G., Lejbkowicz, F., Peterlongo, P. & 126 othersManoukian, S., Peissel, B., Ripamonti, C. B., Bonanni, B., Viel, A., Allavena, A., Bernard, L., Radice, P., Friedman, E., Kaufman, B., Laitman, Y., Dubrovsky, M., Milgrom, R., Jakubowska, A., Cybulski, C., Gorski, B., Jaworska, K., Durda, K., Sukiennicki, G., Lubiński, J., Shugart, Y. Y., Domchek, S. M., Letrero, R., Weber, B. L., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., HeBon, emBRAce, Easton, D. F., Peock, S., Cook, M., Oliver, C., Frost, D., Harrington, P., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Eccles, D., Douglas, F., Brewer, C., Nevanlinna, H., Heikkinen, T., Couch, F. J., Wang, X., Lindor, N. M., Godwin, A. K., Caligo, M. A., Lombardi, G., Loman, N., Karlsson, P., Ehrencrona, H., von Wachenfeldt, A., SWE-BRCA, Barkardottir, R., Hamann, U., Rashid, M. U., Lasa, A., Caldés, T., Andrés, R., Schmitt, M., Assmann, V., Stevens, K., Offit, K., Curado, J., Tilgner, H., Guigó, R., Aiza, G., Brunet, J., Martrat, G., Urruticoechea, A., Blanco, I., Tihomirova, L., Goldgar, D. E., Buys, S., John, E. M., Miron, A., Southey, M., Daly, M. B., BCFR, Schmutzler, R. K., Wappenschmidt, B., Meindl, A., Arnold, N., Deissler, H., Varon-Mateeva, R., Sutter, C., Niederacher, D., Imyamitov, E., Sinilnikova, O. M., Sinilnikova, O. M., Stoppa-Lyonne, D., Mazoyer, S., Verny-Pierre, C., Castera, L., de Pauw, A., Bignon, Y. J., Uhrhammer, N., Peyrat, J. P., Vennin, P., Ferrer, S., Collonge-Rame, M. A., Mortemousque, I., Spurdle, A. B., Beesley, J., Chen, X., Healey, S., Barcellos-Hoff, M. H., Barcellos-Hoff, M. H., Gruber, S. B., Lázaro, C., Capellá, G., McGuffog, L., Nathanson, K. L., Chenevix-Trench, G., Fleisch, M. C., Moreno, V. & Pujana, M. A., 1 Nov 2011, In : PLoS Biology. 9, 11, 18 p., e1001199.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium

Broeks, A., Schmidt, M. K., Sherman, M. E., Couch, F. J., Hopper, J. L., Dite, G. S., Apicella, C., Smith, L. D., Hammet, F., Southey, M. C., Van't Veer, L. J., De Groot, R., Smit, V. T. H. B. M., Fasching, P. A., Beckmann, M. W., Jud, S. M., Ekici, A. B., Hartmann, A., Hein, A., Schulz-wendtland, R. & 135 othersBurwinkel, B., Marme, F., Schneeweiss, A., Sinn, H. P., Sohn, C., Tchatchou, S., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Ørsted, D. D., Kaur-Knudsen, D., Milne, R. L., Pérez, J. I. A., Zamora, P., Rodríguez, P. M., Benítez, J., Brauch, H., Justenhoven, C., Ko, Y-D., Network, T. G., Hamann, U., Fischer, H-P., Brüning, T., Pesch, B., Chang-Claude, J., Wang-Gohrke, S., Bremer, M., Karstens, J. H., Hillemanns, P., Dörk, T., Nevanlinna, H. A., Heikkinen, T., Heikkilä, P., Blomqvist, C., Aittomäki, K., Aaltonen, K., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V-M., Kauppinen, J. M., Kataja, V., Auvinen, P., Eskelinen, M., Soini, Y., Chenevix-Trench, G., Spurdle, A. B., Beesley, J., Chen, X., Holland, H., Lambrechts, D., Claes, B., Vandorpe, T., Neven, P., Wildiers, H., Flesch-Janys, D., Hein, R., Löning, T., Kosel, M., Fredericksen, Z. S., Wang, X., Giles, G. G., Baglietto, L., Severi, G., McLean, C., Haiman, C. A., Henderson, B. E., Le Marchand, L., Kolonel, L. N., Alnæs, G. G., Kristensen, V., Børresen-Dale, A. L., Hunter, D. J., Hankinson, S. E., Andrulis, I. L., Mulligan, A. M., O'Malley, F. P., Devilee, P., Huijts, P. E. A., Tollenaar, R. A. E. M., Van Asperen, C. J., Seynaeve, C. S., Chanock, S. J., Lissowska, J., Brinton, L., Peplonska, B., Figueroa, J. D., Yang, X. R., Hooning, M. J., Hollestelle, A., Oldenburg, R. A., Jager, A., Kriege, M., Ozturk, B., Van Leenders, G. J. L. H., Hall, P., Czene, K., Humphreys, K., Liu, J., Cox, A., Connley, D., Cramp, H. E., Cross, S. S., Balasubramanian, S. P., Reed, M. W. R., Dunning, A. M., Easton, D. F., Humphreys, M. K., Caldas, C., Blows, F., Driver, K., Provenzano, E., Lubinski, J., Jakubowska, A., Huzarski, T., Byrski, T., Cybulski, C., Gorski, B., Gronwald, J., Brennan, P., Sangrajrang, S., Gaborieau, V., Shen, C-Y., Hsiung, C-N., Yu, J-C., Chen, S-T., Hsu, G-C., Hou, M-F., Huang, C. S., Anton-Culver, H., Ziogas, A., Pharoah, P. D. P., Garcia-Closas, M., kConFab51 & AOCS50,51, 2011, In : Human Molecular Genetics. 20, 16, p. 3289-3303 15 p.

Research output: Contribution to journalArticleResearchpeer-review

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: The advantage of more extensive colon surgery

Parry, S., Win, A. K., Parry, B., Macrae, F. A., Gurrin, L. C., Church, J. M., Baron, J. A., Giles, G. G., Leggett, B. A., Winship, I., Lipton, L., Young, G. P., Young, J. P., Lodge, C. J., Southey, M. C., Newcomb, P. A., Le Marchand, L., Haile, R. W. C., Lindor, N. M., Gallinger, S. & 2 othersHopper, J. L. & Jenkins, M. A., Jul 2011, In : Gut. 60, 7, p. 950-957 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Morphological predictors of BRCA1 germline mutations in young women with breast cancer

Southey, M. C., Ramus, S. J., Dowty, J. G., Smith, L. D., Tesoriero, A. A., Wong, E. E. M., Dite, G. S., Jenkins, M. A., Byrnes, G. B., Winship, I., Phillips, K. A., Giles, G. G. & Hopper, J. L., 15 Mar 2011, In : British Journal of Cancer. 104, 6, p. 903-909 7 p.

Research output: Contribution to journalArticleResearchpeer-review

No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study

Park, D. J., Southey, M. C., Giles, G. G. & Hopper, J. L., Jan 2011, In : Breast Cancer Research and Treatment. 125, 1, p. 229-235 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: Results from a breast cancer family registry case-control mutation-screening study

Le Calvez-Kelm, F., Lesueur, F., Damiola, F., Vallée, M., Voegele, C., Babikyan, D., Durand, G., Forey, N., McKay-Chopin, S., Robinot, N., Nguyen-Dumont, T., Thomas, A., Byrnes, G. B., Hopper, J. L., Southey, M. C., Andrulis, I. L., John, E. M. & Tavtigian, S. V., 18 Jan 2011, In : Breast Cancer Research. 13, 1, 12 p., R6.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Rare variants in the ATM gene and risk of breast cancer

Goldgar, D. E., Healey, S., Dowty, J. G., Da Silva, L., Chen, X., Spurdle, A. B., Terry, M. B., Daly, M. J., Buys, S. M., Southey, M. C., Andrulis, I., John, E. M., Khanna, K. K., Hopper, J. L., Oefner, P. J., Lakhani, S. & Chenevix-Trench, G., 25 Jul 2011, In : Breast Cancer Research. 13, 4, 9 p., R73.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

Kote-Jarai, Z., Al Olama, A. A., Giles, G. G., Severi, G., Schleutker, J., Weischer, M., Campa, D., Riboli, E. B., Key, T. J., Gronberg, H., Hunter, D. J., Kraft, P., Thun, M. J., Ingles, S. A., Chanock, S. J., Albanes, D., Hayes, R. B., Neal, D. E., Hamdy, F. C., Donovan, J. L. & 111 othersPharoah, P. D. P., Schumacher, F., Henderson, B. E., Stanford, J. L., Ostrander, E. A., Sorensen, K. D., Dörk, T., Andriole, G. L., Dickinson, J. L., Cybulski, C., Lubinski, J., Spurdle, A. B., Clements, J. A., Chambers, S., Aitken, J., Gardiner, R. A. F., Thibodeau, S. N., Schaid, D., John, E. M., Maier, C., Vogel, W., Cooney, K. A., Park, J. Y., Cannon-Albright, L., Brenner, H., Habuchi, T., Zhang, W-H., Lu, Y. J., Kaneva, R. P., Muir, K., Benlloch, S., Leongamornlert, D. A., Saunders, E. J., Tymrakiewicz, M., Mahmud, N., Guy, M., O'Brien, L. T., Wilkinson, R. A., Hall, A. L., Sawyer, E. J., Dadaev, T., Morrison, J., Dearnaley, D. P., Horwich, A., Huddart, R. A., Khoo, V. S., Parker, C., Van As, N., Woodhouse, C. J., Thompson, A., Christmas, T., Ogden, C., Cooper, C. S., Lophatonanon, A., Southey, M. C., Hopper, J. L., English, D. R., Wahlfors, T., Tammela, T. L. J., Klarskov, P., Nordestgaard, B. G., Røder, M. A., Tybjarg-Hansen, A., Bojesen, S. E., Travis, R. C., Canzian, F., Kaaks, R. J., Wiklund, F., Aly, M., Lindstrom, S., Diver, W. R., Gapstur, S. M., Stern, M. C., Corral, R., Virtamo, J., Cox, A., Haiman, C. A., Le Marchand, L., Fitzgerald, L. M., Kolb, S., Kwon, E. M., Karyadi, D. M., Ørntoft, T. F., Borre, M., Meyer, A., Serth, J., Yeager, M., Berndt, S. I., Marthick, J. R., Patterson, B., Wokolorczyk, D., Batra, J., Lose, F. A., McDonnell, S. K., Joshi, A. D., Shahabi, A., Rinckleb, A. E., Ray, A., Sellers, T. A., Lin, H-Y. L., Stephenson, R. A., Farnham, J., Muller, H., Rothenbacher, D., Tsuchiya, N., Narita, S., Cao, G. W., Slavov, C., Mitev, V., Easton, D. F. & Eeles, R. A., Aug 2011, In : Nature Genetics. 43, 8, p. 785-791 7 p.

Research output: Contribution to journalArticleResearchpeer-review

The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: An example from the breast cancer family registry

Milne, R. L., John, E. M., Knight, J. A., Dite, G. S., Southey, M. C., Giles, G. G., Apicella, C., West, D. W., Andrulis, I. L., Whittemore, A. S. & Hopper, J. L., Oct 2011, In : International Journal of Epidemiology. 40, 5, p. 1342-1354 13 p., dyr110.

Research output: Contribution to journalArticleResearchpeer-review

The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain

Peterlongo, P., Caleca, L., Cattaneo, E., Ravagnani, F., Bianchi, T., Galastri, L., Bernard, L., Ficarazzi, F., Dall'olio, V., Marme, F., Langheinz, A., Sohn, C., Burwinkel, B., Giles, G. G., Baglietto, L., Severi, G., Odefrey, F. A., Southey, M. C., Osorio, A., Fernández, F. & 6 othersAlonso, M. R., Benítez, J., Barile, M., Peissel, B., Manoukian, S. & Radice, P., Oct 2011, In : Journal of Medical Genetics. 48, 10, p. 703-704 2 p.

Research output: Contribution to journalArticleResearchpeer-review

2010

A BRCA1 promoter variant (rs11655505) and breast cancer risk

Verderio, P., Pizzamiglio, S., Southey, M. C., Spurdle, A. B., Hopper, J. L., Chen, X., Beesley, J., Schmutzler, R. K., Engel, C., Burwinkel, B., Bugert, P., Ficarazzi, F., Manoukian, S., Barile, M., Wappenschmidt, B., Chenevix-Trench, G., Radice, P. & Peterlongo, P., 1 Apr 2010, In : Journal of Medical Genetics. 47, 4, p. 268-270 3 p.

Research output: Contribution to journalArticleResearchpeer-review

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. & 159 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., Flesch-Janys, D., 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. & emBRAce, 1 Jan 2010, In : Nature Genetics. 42, 10, p. 885-892 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

A PALB2 mutation associated with high risk of breast cancer

Southey, M. C., Teo, Z. L., Dowty, J. G., Odefrey, F. A., Park, D. J., Tischkowitz, M., Sabbaghian, N., Apicella, C., Byrnes, G. B., Winship, I., Baglietto, L., Giles, G. G., Goldgar, D. E., Foulkes, W. D. & Hopper, J. L., 23 Dec 2010, In : Breast Cancer Research. 12, 6, 10 p., R109.

Research output: Contribution to journalArticleResearchpeer-review

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. & 65 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. & KConFab, 31 Dec 2010, In : Breast Cancer Research. 12, 6, 11 p., R110.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

Azzato, E. M., Tyrer, J., Fasching, P. A., Beckmann, M. W., Ekici, A. B., Schulz-Wendtland, R., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Milne, R. L., Arias, J. I., Menéndez, P., Benítez, J., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C. & 35 othersMargolin, S., Mannermaa, A., Kosma, V. M., Kataja, V., Beesley, J., Chen, X., Chenevix-Trench, G., Couch, F. J., Olson, J. E., Fredericksen, Z. S., Wang, X., Giles, G. G., Severi, G., Baglietto, L., Southey, M. C., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., García-Closas, M., Lissowska, J., Sherman, M. E., Bolton, K. L., Hall, P., Czene, K., Cox, A., Brock, I. W., Elliott, G. C., Reed, M. W. R., Greenberg, D., Anton-Culver, H., Ziogas, A., Humphreys, M., Easton, D. F., Caporaso, N. E. & Pharoah, P. D. P., 1 May 2010, In : Journal of the National Cancer Institute. 102, 9, p. 650-662 13 p.

Research output: Contribution to journalArticleResearchpeer-review

Caracterização molecular do câncer de mama em mulheres brasileiras jovens

de Carvalho, L. V., Pereira, E. M., Frappart, L., Boniol, M., Bernardo, W. M., Tarricone, V., Tavtigian, S. & Southey, M. C., 12 Aug 2010, In : Revista da Associacao Medica Brasileira. 56, 3, p. 278-287 10 p.

Research output: Contribution to journalArticleResearchpeer-review

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

Gaudet, M. M., Kirchhoff, T., Green, T., Vijai, J., Korn, J. M., Guiducci, C., Segrè, A. V., McGee, K., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Gauthier-Villars, M., Sobol, H., Longy, M., Frenay, M., GEMO Study Collaborators & 97 othersHogervorst, F. B. L., Rookus, M. A., Collée, J. M., Hoogerbrugge, N., van Roozendaal, K. E. P., Piedmonte, M., Rubinstein, W., Nerenstone, S., Van Le, L., Blank, S. V., Caldés, T., De la Hoya, M., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Arason, A., Johannsson, O. T., Barkardottir, R. B., Devilee, P., Olopade, O. I., Neuhausen, S. L., Wang, X., Fredericksen, Z. S., Peterlongo, P., Manoukian, S., Barile, M., Viel, A., Radice, P., Phelan, C. M., Narod, S., Rennert, G., Lejbkowicz, F., Flugelman, A., Andrulis, I. L., Glendon, G., Ozcelik, H., Toland, A. E., Montagna, M., D'Andrea, E., Friedman, E., Laitman, Y., Borg, A., Beattie, M., Ramus, S. J., Domchek, S. M., Nathanson, K. L., Rebbeck, T., Spurdle, A. B., Chen, X., Holland, H., John, E. M., Hopper, J. L., Buys, S. S., Daly, M. B., Southey, M. C., Terry, M. B., Tung, N., Hansen, T. V. O., Nielsen, F. C., Greene, M. I., Mai, P. L., Osorio, A., Durán, M., Andres, R., Benítez, J., Weitzel, J. N., Garber, J., Hamann, U., Peock, S., Cook, M., Oliver, C., Frost, D., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Walker, L., Eason, J., Barwell, J., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Engert, S., Arnold, N., Gadzicki, D., Dean, M., Gold, B., Klein, R. J., Couch, F. J., Chenevix-Trench, G., Easton, D. F., Daly, M. J., Antoniou, A. C., Altshuler, D. M. & Offit, K., 1 Oct 2010, In : PLoS Genetics. 6, 10, p. 1-12 12 p., e1001183.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Common genetic variants associated with breast cancer and mammographic density measures that predict disease

Odefrey, F., Stone, J., Gurrin, L. C., Byrnes, G. B., Apicella, C., Dite, G. S., Cawson, J. N., Giles, G. G., Treloar, S. A., English, D. R., Hopper, J. L. & Southey, M. C., 15 Feb 2010, In : Cancer Research. 70, 4, p. 1449-1458 10 p.

Research output: Contribution to journalArticleResearchpeer-review

Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age

Turkovic, L., Gurrin, L. C., Bahlo, M., Dite, G. S., Southey, M. C. & Hopper, J. L., 1 Sep 2010, In : BMC Cancer. 10, 7 p., 466.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Comprehensive analysis of the cytokine-rich chromosome 5q31.1 region suggests a role for IL-4 gene variants in prostate cancer risk

Tindall, E. A., Severi, G., Hoang, H. N., Ma, C. S., Fernandez, P., Southey, M. C., English, D. R., Hopper, J. L., Heyns, C. F., Tangye, S. G., Giles, G. G. & Hayes, V. M., 19 Apr 2010, In : Carcinogenesis. 31, 10, p. 1748-1754 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Family-based association study of IGF1 microsatellites and height, weight, and body mass index

Fehringer, G., Ozcelik, H., Knight, J. A., Paterson, A. D., Dite, G. S., Giles, G. G., Southey, M. C., Andrulis, I. L., Hopper, J. L. & Boyd, N. F., 1 Apr 2010, In : Journal of Human Genetics. 55, 4, p. 255-258 4 p.

Research output: Contribution to journalArticleResearchpeer-review

HFE c282y homozygotes are at increased risk of breast and colorectal cancer

Osborne, N. J., Gurrin, L. C., Allen, K. J., Constantine, C. C., Delatycki, M. B., McLaren, C. E., Gertig, D. M., Anderson, G. J., Southey, M. C., Olynyk, J. K., Powell, L. W., Hopper, J. L., Giles, G. G. & English, D. R., 1 Apr 2010, In : Hepatology. 51, 4, p. 1311-1318 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations

Dite, G. S., Whittemore, A. S., Knight, J. A., John, E. M., Milne, R. L., Andrulis, I. L., Southey, M. C., McCredie, M. R. E., Giles, G. G., Miron, A., Phipps, A. I., West, D. W. & Hopper, J. L., 28 Sep 2010, In : British Journal of Cancer. 103, 7, p. 1103-1108 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

Fletcher, O., Johnson, N., Dos Santos Silva, I., Ashworth, A., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C., Burwinkel, B., Bartram, C. R., Meindl, A., Schmutzler, R. K., Cox, A., Brock, I., Elliott, G., Reed, M. W. R., Southey, M. C., Smith, L., Spurdle, A. B., Hopper, J. L. & 69 othersCouch, F. J., Olson, J. E., Wang, X., Fredericksen, Z., Schürmann, P., Waltes, R., Bremer, M., Dörk, T., Devilee, P., Van Asperen, C. J., Tollenaar, R. A. E. M., Seynaeve, C., Hall, P., Czene, K., Humphreys, K., Liu, J., Ahmed, S., Dunning, A. M., Maranian, M., Pharoah, P. D. P., Chenevix-Trench, G., Beesley, J., Bogdanova, N. V., Antonenkova, N. N., Zalutsky, I. V., Anton-Culver, H., Ziogas, A., Brauch, H., Ko, Y. D., Hamann, U., Fasching, P. A., Strick, R., Ekici, A. B., Beckmann, M. W., Giles, G. G., Severi, G., Baglietto, L., English, D. R., Milne, R. L., Benítez, J., Arias, J. I., Pita, G., Nordestgaard, B. G., Bojesen, S. E., Flyger, H., Kang, D., Yoo, K. Y., Noh, D. Y., Mannermaa, A., Kataja, V., Kosma, V. M., García-Closas, M., Chanock, S., Lissowska, J., Brinton, L. A., Chang-Claude, J., Wang-Gohrke, S., Broeks, A., Schmidt, M. K., Van Leeuwen, F. E., Van't Veer, L. J., Margolin, S., Lindblom, A., Humphreys, M. K., Morrison, J., Platte, R., Easton, D. F., Peto, J. & Breast Cancer Association Consortium, 1 Sep 2010, In : Cancer Epidemiology Biomarkers and Prevention. 19, 9, p. 2143-2151 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Plasma concentration of Propionibacterium acnes antibodies and prostate cancer risk: Results from an Australian population-based case-control study

Severi, G., Shannon, B. A., Hoang, H. N., Baglietto, L., English, D. R., Hopper, J. L., Pedersen, J., Southey, M. C., Sinclair, R., Cohen, R. J. & Giles, G. G., 27 Jul 2010, In : British Journal of Cancer. 103, 3, p. 411-415 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian breast cancer family study

Mouchawar, J., Korch, C., Byers, T., Pitts, T. M., Li, E., McCredie, M. R. E., Giles, G. G., Hopper, J. L. & Southey, M. C., 15 Jun 2010, In : Cancer Research. 70, 12, p. 4795-4800 6 p.

Research output: Contribution to journalArticleResearchpeer-review