Rare Mutations in XRCC2 Increase the Risk of Breast Cancer
Park, D.J., Lesueur, F., Nguyen-Dumont, T., Pertesi, M., Odefrey, F., Hammet, F., Neuhausen, S.L., John, E.M., Andrulis, I.L., Terry, M.B., Daly, M., Buys, S., Le Calvez-Kelm, F., Lonie, A., Pope, B.J., Tsimiklis, H., Voegele, C., Hilbers, F.M., Hoogerbrugge, N., Barroso, A., Osorio, A., Giles, G.G., Devilee, P., Benitez, J., Hopper, J.L., Tavtigian, S.V., Goldgar, D.E., Southey, M.C.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Multigene testing of moderate-risk genes: be mindful of the missense
Young, E L, Feng, B J, Stark, A W, Damiola, F, Durand, G, Forey, N, Francy, T C, Gammon, A, Kohlmann, W K, Kaphingst, K A, McKay-Chopin, S, Nguyen-Dumont, T, Oliver, J, Paquette, A M, Pertesi, M, Robinot, N, Rosenthal, J S, Vallee, M, Voegele, C, Hopper, J L, Southey, M C, Andrulis, I L, John, E M, Hashibe, M, Gertz, J, Le Calvez-Kelm, F, Lesueur, F, Goldgar, D E, Tavtigian, S V
Published in Journal of medical genetics (01.06.2016)
Published in Journal of medical genetics (01.06.2016)
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Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots
Nguyen-Dumont, T., Mahmoodi, M., Hammet, F., Tran, T., Tsimiklis, H., Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Giles, G.G., Hopper, J.L., Australian Breast Cancer Family Registry, Southey, M.C., Park, D.J.
Published in Analytical biochemistry (01.02.2015)
Published in Analytical biochemistry (01.02.2015)
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Tumour morphology predicts PALB2 germline mutation status
TEO, Z. L, PROVENZANO, E, SHACKLETON, K, CICCIARELLI, L, CONFAB, K, BUYS, S. S, ANDRULIS, I. L, MULLIGAN, A. M, GLENDON, G, JOHN, E. M, TERRY, M. B, DALY, M, DITE, G. S, ODEFREY, F. A, NGUYEN-DUMONT, T, GILES, G. G, DOWTY, J. G, WINSHIP, I, GOLDGAR, D. E, HOPPER, J. L, SOUTHEY, M. C, PARK, D. J, APICELLA, C, SAWYER, S. D, JAMES, P. A, MITCHELL, G, TRAINER, A. H, LINDEMAN, G. J
Published in British journal of cancer (09.07.2013)
Published in British journal of cancer (09.07.2013)
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Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing
Blanc, R, Jammot, A, Nguyen-Dumont, T, Teo, ZL, Odefrey, FA, Hammet, F, Goldgar, DE, Park, DJ, Southey, MC
Published in Hereditary cancer in clinical practice (01.01.2012)
Published in Hereditary cancer in clinical practice (01.01.2012)
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Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing
Teo, ZL, Park, DJ, Odefrey, F, Hammet, F, Nguyen-Dumont, T, Tsimiklis, H, Pope, BJ, Lonie, A, Winship, I, Giles, GG, Hopper, JL, Southey, MC
Published in Hereditary cancer in clinical practice (12.04.2012)
Published in Hereditary cancer in clinical practice (12.04.2012)
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Journal Article
Identification of new breast cancer predisposition genes via whole exome sequencing
Southey, MC, Park, DJ, Lesueur, F, Odefrey, F, Nguyen-Dumont, T, Hammet, F, Neuhausen, SL, John, EM, Andrulis, IL, Chenevix-Trench, G, Baglietto, L, Le Calvez-Kelm, F, Pertesi, M, Lonie, A, Pope, B, Sinilnikova, O, Tsimiklis, H, Giles, GG, Hopper, JL, Tavtigian, SV, Goldgar, DE
Published in Hereditary cancer in clinical practice (01.01.2012)
Published in Hereditary cancer in clinical practice (01.01.2012)
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Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer
Darst, Burcu F, Dadaev, Tokhir, Saunders, Ed, Sheng, Xin, Wan, Peggy, Pooler, Loreall, Xia, Lucy Y, Chanock, Stephen, Berndt, Sonja I, Gapstur, Susan M, Stevens, Victoria, Albanes, Demetrius, Weinstein, Stephanie J, Gnanapragasam, Vincent, Giles, Graham G, Nguyen-Dumont, Tu, Milne, Roger L, Pomerantz, Mark, Schmidt, Julie A, Mucci, Lorelei, Catalona, William J, Hetrick, Kurt N, Doheny, Kimberly F, MacInnis, Robert J, Southey, Melissa C, Eeles, Rosalind A, Wiklund, Fredrik, Kote-Jarai, Zsofia, Conti, David V, Haiman, Christopher A
Published in JNCI : Journal of the National Cancer Institute (04.05.2021)
Published in JNCI : Journal of the National Cancer Institute (04.05.2021)
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Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer
Schaid, Daniel J., McDonnell, Shannon K., FitzGerald, Liesel M., DeRycke, Lissa, Fogarty, Zachary, Giles, Graham G., MacInnis, Robert J., Southey, Melissa C., Nguyen-Dumont, Tu, Cancel-Tassin, Geraldine, Cussenot, Oliver, Whittemore, Alice S., Sieh, Weiva, Ioannidis, Nilah Monnier, Hsieh, Chih-Lin, Stanford, Janet L., Schleutker, Johanna, Cropp, Cheryl D., Carpten, John, Hoegel, Josef, Eeles, Rosalind, Kote-Jarai, Zsofia, Ackerman, Michael J., Klein, Christopher J., Mandal, Diptasri, Cooney, Kathleen A., Bailey-Wilson, Joan E., Helfand, Brian, Catalona, William J., Wiklund, Fredrick, Riska, Shaun, Bahetti, Saurabh, Larson, Melissa C., Cannon Albright, Lisa, Teerlink, Craig, Xu, Jianfeng, Isaacs, William, Ostrander, Elaine A., Thibodeau, Stephen N.
Published in European urology (01.03.2021)
Published in European urology (01.03.2021)
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Rare germline genetic variants and risk of aggressive prostate cancer
Nguyen‐Dumont, Tú, MacInnis, Robert J., Steen, Jason A., Theys, Derrick, Tsimiklis, Helen, Hammet, Fleur, Mahmoodi, Maryam, Pope, Bernard J., Park, Daniel J., Mahmood, Khalid, Severi, Gianluca, Bolton, Damien, Milne, Roger L., Giles, Graham G., Southey, Melissa C.
Published in International journal of cancer (15.10.2020)
Published in International journal of cancer (15.10.2020)
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Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
Chen, Hongjie, Fan, Shaoqi, Stone, Jennifer, Thompson, Deborah J, Douglas, Julie, Li, Shuai, Scott, Christopher, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Li, Christopher, Peters, Ulrike, Hopper, John L, Southey, Melissa C, Nguyen-Dumont, Tu, Nguyen, Tuong L, Fasching, Peter A, Behrens, Annika, Cadby, Gemma, Murphy, Rachel A, Aronson, Kristan, Howell, Anthony, Astley, Susan, Couch, Fergus, Olson, Janet, Milne, Roger L, Giles, Graham G, Haiman, Christopher A, Maskarinec, Gertraud, Winham, Stacey, John, Esther M, Kurian, Allison, Eliassen, Heather, Andrulis, Irene, Evans, D Gareth, Newman, William G, Hall, Per, Czene, Kamila, Swerdlow, Anthony, Jones, Michael, Pollan, Marina, Fernandez-Navarro, Pablo, McConnell, Daniel S, Kristensen, Vessela N, Rothstein, Joseph H, Wang, Pei, Habel, Laurel A, Sieh, Weiva, Dunning, Alison M, Pharoah, Paul D P, Easton, Douglas F, Gierach, Gretchen L, Tamimi, Rulla M, Vachon, Celine M, Lindström, Sara
Published in Breast cancer research : BCR (12.04.2022)
Published in Breast cancer research : BCR (12.04.2022)
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Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
Coetzee, Simon G., Tyrer, Jonathan P., Dezem, Felipe Segato, Seo, Ji-Heui, Reyes, Alberto L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Bandera, Elisa V., Beane Freeman, Laura E., Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernardini, Marcus Q., Bjorge, Line, Bogdanova, Natalia V., Bolton, Kelly L., Brenton, James D., Butzow, Ralf, Cai, Hui, Campbell, Ian, Chanock, Stephen J., Chen, Kexin, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Ene, Gabrielle, Flanagan, James M., Gentry-Maharaj, Aleksandra, Giles, Graham G., Goodman, Marc T., Haiman, Christopher A., Hildebrandt, Michelle A.T., Høgdall, Claus K., Huang, Ruea-Yea, Jones, Michael E., Karlan, Beth Y., Karnezis, Anthony N., Kennedy, Catherine J., Kiemeney, Lambertus A., Kjaer, Susanne K., Labrie, Marilyne, Lambrechts, Diether, Larson, Melissa C., Li, Lian, Lush, Michael, Matsuo, Keitaro, May, Taymaa, McLaughlin, John R., McNeish, Iain A., Menon, Usha, Modugno, Francesmary, Moffitt, Melissa, Moysich, Kirsten B., Nguyen-Dumont, Tu, Olsson, Håkan, Onland-Moret, N. Charlotte, Pejovic, Tanja, Permuth, Jennifer B., Piskorz, Anna, Prokofyeva, Darya, Riggan, Marjorie J., Risch, Harvey A., Rodríguez-Antona, Cristina, Rossing, Mary Anne, Sandler, Dale P., Setiawan, V. Wendy, Southey, Melissa C., Steed, Helen, Teo, Soo Hwang, Terry, Kathryn L., Thompson, Pamela J., Trabert, Britton, Travis, Ruth, Valen, Ellen, Van Nieuwenhuysen, Els, Vierkant, Robert A., Webb, Penelope M., Weinberg, Clarice R., Weise, Rayna Matsuno, Wentzensen, Nicolas, White, Emily, Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Yan, Li, Yannoukakos, Drakoulis, Zeinomar, Nur, Zheng, Wei, Berchuck, Andrew, Goode, Ellen L., Huntsman, David G., Sellers, Thomas A., Lawrenson, Kate, Schildkraut, Joellen M., Plummer, Jasmine T., Jones, Michelle R., Gayther, Simon A.
Published in American journal of human genetics (2024)
Published in American journal of human genetics (2024)
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Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men
Wang, Anqi, Xu, Yili, Yu, Yao, Nead, Kevin T, Kim, TaeBeom, Xu, Keren, Dadaev, Tokhir, Saunders, Ed, Sheng, Xin, Wan, Peggy, Pooler, Loreall, Xia, Lucy Y, Chanock, Stephen, Berndt, Sonja I, Gapstur, Susan M, Stevens, Victoria, Albanes, Demetrius, Weinstein, Stephanie J, Gnanapragasam, Vincent, Giles, Graham G, Nguyen-Dumont, Tu, Milne, Roger L, Pomerantz, Mark M, Schmidt, Julie A, Stopsack, Konrad H, Mucci, Lorelei A, Catalona, William J, Hetrick, Kurt N, Doheny, Kimberly F, MacInnis, Robert J, Southey, Melissa C, Eeles, Rosalind A, Wiklund, Fredrik, Kote-Jarai, Zsofia, de Smith, Adam J, Conti, David V, Huff, Chad, Haiman, Christopher A, Darst, Burcu F
Published in Human molecular genetics (13.01.2023)
Published in Human molecular genetics (13.01.2023)
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EPV003/#326 An integrated genomic, proteomic and immunopeptidomic approach to discover novel tumour neoantigens in an immunologically cold ovarian cancer for personalised T-cell receptor therapy
Ho, GY, Faridi, P, Wu, J, Barker, H, Nguyen-Dumont, T, Chang, J, Fell, A, Eggenhuizen, P, Steen, J, Manolitsas, T, Frentzas, S, Bedo, J, Vandenberg, C, Papenfuss, T, Scott, C, Ooi, J, Segelov, E
Published in International journal of gynecological cancer (01.11.2021)
Published in International journal of gynecological cancer (01.11.2021)
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Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study
Karlsson, Questa, Brook, Mark N., Dadaev, Tokhir, Wakerell, Sarah, Saunders, Edward J., Muir, Kenneth, Neal, David E., Giles, Graham G., MacInnis, Robert J., Thibodeau, Stephen N., McDonnell, Shannon K., Cannon-Albright, Lisa, Teixeira, Manuel R., Paulo, Paula, Cardoso, Marta, Huff, Chad, Li, Donghui, Yao, Yu, Scheet, Paul, Permuth, Jennifer B., Stanford, Janet L., Dai, James Y., Ostrander, Elaine A., Cussenot, Olivier, Cancel-Tassin, Géraldine, Hoegel, Josef, Herkommer, Kathleen, Schleutker, Johanna, Tammela, Teuvo L.J., Rathinakannan, Venkat, Sipeky, Csilla, Wiklund, Fredrik, Grönberg, Henrik, Aly, Markus, Isaacs, William B., Dickinson, Jo L., FitzGerald, Liesel M., Chua, Melvin L.K., Nguyen-Dumont, Tu, Schaid, Daniel J., Southey, Melissa C., Eeles, Rosalind A., Kote-Jarai, Zsofia
Published in European urology oncology (01.08.2021)
Published in European urology oncology (01.08.2021)
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Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2 : Findings from the Australian Breast Cancer Family Registry
Nguyen-Dumont, Tú, Dowty, James G, Steen, Jason A, Renault, Anne-Laure, Hammet, Fleur, Mahmoodi, Maryam, Theys, Derrick, Rewse, Amanda, Tsimiklis, Helen, Winship, Ingrid M, Giles, Graham G, Milne, Roger L, Hopper, John L, Southey, Melissa C
Published in Cancers (18.03.2021)
Published in Cancers (18.03.2021)
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Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer
Darst, Burcu F, Saunders, Ed, Dadaev, Tokhir, Sheng, Xin, Wan, Peggy, Pooler, Loreall, Xia, Lucy Y, Chanock, Stephen, Berndt, Sonja I, Wang, Ying, Patel, Alpa V, Albanes, Demetrius, Weinstein, Stephanie J, Gnanapragasam, Vincent, Huff, Chad, Couch, Fergus J, Wolk, Alicja, Giles, Graham G, Nguyen-Dumont, Tu, Milne, Roger L, Pomerantz, Mark M, Schmidt, Julie A, Travis, Ruth C, Key, Timothy J, Stopsack, Konrad H, Mucci, Lorelei A, Catalona, William J, Marosy, Beth, Hetrick, Kurt N, Doheny, Kimberly F, MacInnis, Robert J, Southey, Melissa C, Eeles, Rosalind A, Wiklund, Fredrik, Conti, David V, Kote-Jarai, Zsofia, Haiman, Christopher A
Published in JAMA oncology (01.11.2023)
Published in JAMA oncology (01.11.2023)
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Prospective Evaluation over 15 Years of Six Breast Cancer Risk Models
Li, Sherly X, Milne, Roger L, Nguyen-Dumont, Tú, English, Dallas R, Giles, Graham G, Southey, Melissa C, Antoniou, Antonis C, Lee, Andrew, Winship, Ingrid, Hopper, John L, Terry, Mary Beth, MacInnis, Robert J
Published in Cancers (16.10.2021)
Published in Cancers (16.10.2021)
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A Polygenic Risk Score Predicts Incident Prostate Cancer Risk in Older Men but Does Not Select for Clinically Significant Disease
Bakshi, Andrew, Riaz, Moeen, Orchard, Suzanne G, Carr, Prudence R, Joshi, Amit D, Cao, Yin, Rebello, Richard, Nguyen-Dumont, Tú, Southey, Melissa C, Millar, Jeremy L, Gately, Lucy, Gibbs, Peter, Ford, Leslie G, Parnes, Howard L, Chan, Andrew T, McNeil, John J, Lacaze, Paul
Published in Cancers (19.11.2021)
Published in Cancers (19.11.2021)
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