Rare genetic variants: making the connection with breast cancer susceptibility

by Tú Nguyen-Dumont, Jenna Stewart, Ingrid Winship, Melissa C. Southey
Published 2015-12-01

A high-plex PCR approach for massively parallel sequencing

by Tú Nguyen-Dumont, Bernard J. Pope, Fleur Hammet, Melissa C. Southey, Daniel J. Park
Published 2013-08-01

Abridged adapter primers increase the target scope of Hi-Plex

by Tú Nguyen-Dumont, Fleur Hammet, Maryam Mahmoodi, Bernard J. Pope, Graham G. Giles, Graham G. Hopper, Melissa C. Southey, Daniel J. Park
Published 2015-01-01

Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM

by Anne-Laure Renault, James G. Dowty, Jason A. Steen, Shuai Li, Ingrid M. Winship, Graham G. Giles, John L. Hopper, Melissa C. Southey, Tú Nguyen-Dumont
Published 2022-04-01

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

by Fleur Hammet, Khalid Mahmood, Thomas R Green, Tu Nguyen-Dumont, Melissa C Southey, Daniel D Buchanan, Andrew Lonie, Katherine L Nathanson, Fergus J Couch, Bernard J Pope, Daniel J Park
Published 2019-09-01

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

by Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C. Southey
Published 2018-01-01

Analytical validation of an error-corrected ultra-sensitive ctDNA next-generation sequencing assay

by Heidi Fettke, Jason A Steen, Edmond M Kwan, Patricia Bukczynska, Shivakumar Keerthikumar, David Goode, Maria Docanto, Nicole Ng, Luciano Martelotto, Christine Hauser, Melissa C Southey, Arun A Azad, Tu Nguyen-Dumont
Published 2020-08-01

Repeatability of methylation measures using a QIAseq targeted methyl panel and comparison with the Illumina HumanMethylation450 assay

by Chenglong Yu, Pierre-Antoine Dugué, James G. Dowty, Fleur Hammet, JiHoon E. Joo, Ee Ming Wong, Mahnaz Hosseinpour, Graham G. Giles, John L. Hopper, Tu Nguyen-Dumont, Robert J. MacInnis, Melissa C. Southey
Published 2021-10-01

Prospective Evaluation over 15 Years of Six Breast Cancer Risk Models

by Sherly X. Li, Roger L. Milne, Tú Nguyen-Dumont, Dallas R. English, Graham G. Giles, Melissa C. Southey, Antonis C. Antoniou, Andrew Lee, Ingrid Winship, John L. Hopper, Mary Beth Terry, Robert J. MacInnis
Published 2021-10-01

Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk

by Shuai Li, Tuong L. Nguyen, Tu Nguyen-Dumont, James G. Dowty, Gillian S. Dite, Zhoufeng Ye, Ho N. Trinh, Christopher F. Evans, Maxine Tan, Joohon Sung, Mark A. Jenkins, Graham G. Giles, John L. Hopper, Melissa C. Southey
Published 2022-06-01

Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk

by Tuong L. Nguyen, Shuai Li, James G. Dowty, Gillian S. Dite, Zhoufeng Ye, Tu Nguyen-Dumont, Ho N. Trinh, Christopher F. Evans, Maxine Tan, Joohon Sung, Mark A. Jenkins, Graham G. Giles, Melissa C. Southey, John L. Hopper
Published 2022-03-01

Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in <i>CHEK2</i>: Findings from the Australian Breast Cancer Family Registry

by Tú Nguyen-Dumont, James G. Dowty, Jason A. Steen, Anne-Laure Renault, Fleur Hammet, Maryam Mahmoodi, Derrick Theys, Amanda Rewse, Helen Tsimiklis, Ingrid M. Winship, Graham G. Giles, Roger L. Milne, John L. Hopper, Melissa C. Southey
Published 2021-03-01

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

by Tú Nguyen-Dumont, Zhi L. Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Andrew Lonie, Miroslav K. Kapuscinski, Khalid Mahmood, ABCFR, David E. Goldgar, Graham G. Giles, Ingrid Winship, John L. Hopper, Melissa C. Southey
Published 2018-02-01

A Polygenic Risk Score Predicts Incident Prostate Cancer Risk in Older Men but Does Not Select for Clinically Significant Disease

by Andrew Bakshi, Moeen Riaz, Suzanne G. Orchard, Prudence R. Carr, Amit D. Joshi, Yin Cao, Richard Rebello, Tú Nguyen-Dumont, Melissa C. Southey, Jeremy L. Millar, Lucy Gately, Peter Gibbs, Leslie G. Ford, Howard L. Parnes, Andrew T. Chan, John J. McNeil, Paul Lacaze
Published 2021-11-01

<i>VTRNA2-1</i>: Genetic Variation, Heritable Methylation and Disease Association

by Pierre-Antoine Dugué, Chenglong Yu, Timothy McKay, Ee Ming Wong, Jihoon Eric Joo, Helen Tsimiklis, Fleur Hammet, Maryam Mahmoodi, Derrick Theys, kConFab, John L. Hopper, Graham G. Giles, Roger L. Milne, Jason A. Steen, James G. Dowty, Tu Nguyen-Dumont, Melissa C. Southey
Published 2021-03-01

Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer

by Tú Nguyen-Dumont, James G. Dowty, Robert J. MacInnis, Jason A. Steen, Moeen Riaz, Pierre-Antoine Dugué, Anne-Laure Renault, Fleur Hammet, Maryam Mahmoodi, Derrick Theys, Helen Tsimiklis, Gianluca Severi, Damien Bolton, Paul Lacaze, Robert Sebra, Eric Schadt, John McNeil, Graham G. Giles, Roger L. Milne, Melissa C. Southey
Published 2021-03-01

Genomic Risk Prediction for Breast Cancer in Older Women

by Paul Lacaze, Andrew Bakshi, Moeen Riaz, Suzanne G. Orchard, Jane Tiller, Johannes T. Neumann, Prudence R. Carr, Amit D. Joshi, Yin Cao, Erica T. Warner, Alisa Manning, Tú Nguyen-Dumont, Melissa C. Southey, Roger L. Milne, Leslie Ford, Robert Sebra, Eric Schadt, Lucy Gately, Peter Gibbs, Bryony A. Thompson, Finlay A. Macrae, Paul James, Ingrid Winship, Catriona McLean, John R. Zalcberg, Robyn L. Woods, Andrew T. Chan, Anne M. Murray, John J. McNeil
Published 2021-07-01

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

by Melissa C. Southey, James G. Dowty, Moeen Riaz, Jason A. Steen, Anne-Laure Renault, Katherine Tucker, Judy Kirk, Paul James, Ingrid Winship, Nicholas Pachter, Nicola Poplawski, Scott Grist, Daniel J. Park, Bernard J. Pope, Khalid Mahmood, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Amanda Rewse, Amanda Willis, April Morrow, Catherine Speechly, Rebecca Harris, Robert Sebra, Eric Schadt, Paul Lacaze, John J. McNeil, Graham G. Giles, Roger L. Milne, John L. Hopper, Tú Nguyen-Dumont
Published 2021-12-01

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

by Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C. Southey, John L. Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K. Schmidt, Muriel A. Adank, Irene L. Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur, Elodie Girard, Susan L. Neuhausen, Elad Ziv, Jamie Allen, Douglas F. Easton, Rodney J. Scott, Kylie L. Gorringe, Paul A. James, Ian G. Campbell
Published 2021-05-01

Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci

by Hongjie Chen, Shaoqi Fan, Jennifer Stone, Deborah J. Thompson, Julie Douglas, Shuai Li, Christopher Scott, Manjeet K. Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Christopher Li, Ulrike Peters, John L. Hopper, Melissa C. Southey, Tu Nguyen-Dumont, Tuong L. Nguyen, Peter A. Fasching, Annika Behrens, Gemma Cadby, Rachel A. Murphy, Kristan Aronson, Anthony Howell, Susan Astley, Fergus Couch, Janet Olson, Roger L. Milne, Graham G. Giles, Christopher A. Haiman, Gertraud Maskarinec, Stacey Winham, Esther M. John, Allison Kurian, Heather Eliassen, Irene Andrulis, D. Gareth Evans, William G. Newman, Per Hall, Kamila Czene, Anthony Swerdlow, Michael Jones, Marina Pollan, Pablo Fernandez-Navarro, Daniel S. McConnell, Vessela N. Kristensen, NBCS Investigators, Joseph H. Rothstein, Pei Wang, Laurel A. Habel, Weiva Sieh, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Gretchen L. Gierach, Rulla M. Tamimi, Celine M. Vachon, Sara Lindström
Published 2022-04-01