Tu Nguyen

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

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

Journal article  |  2020  |  BioTechniques

Plasma circulating tumor DNA (ctDNA) analysis has emerged as a minimally invasive means to perform molecular tumor typing. Here we..

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M Dunning, James Redman, James Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen Pooley, Leila Dorling, Andrew Lee, Muriel A Adank, Julian Adlard, Kristiina Aittomaki, Irene L Andrulis, Peter Ang, et al.

Journal article  |  2020  |  Journal of Clinical Oncology

PURPOSE: To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic..

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

Tu Nguyen-Dumont, Jason A Steen, Ingrid Winship, Daniel J Park, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Mark Clendenning, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2020  |  Familial Cancer

The advent of gene panel testing is challenging the previous practice of using clinically defined cancer family syndromes to infor..

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Gisella Figlioli, Anders Kvist, Emma Tham, Jana Soukupova, Petra Kleiblova, Taru A Muranen, Nadine Andrieu, Jacopo Azzollini, Judith Balmana, Alicia Barroso, Javier Benitez, Birgitte Bertelsen, Ana Blanco, Bernardo Bonanni, Ake Borg, Joan Brunet, Daniele Calistri, Mariarosaria Calvello, Stepan Chvojka, Laura Cortesi, et al.

Journal article  |  2020  |  Cancers

Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2-4-fold increased breast cancer risk in..

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Roser Pujol, Johanna Kiiski, Taru A Muranen, Daniel R Barnes, Joe Dennis, Kyriaki Michailidou, Manjeet K Bolla, Goska Leslie, Cora M Aalfs, Muriel A Adank, Julian Adlard, Simona Agata, Karen Cadoo, Bjarni A Agnarsson, Thomas Ahearn, et al.

Journal article  |  2019  |  npj Breast Cancer

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1..

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

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

Journal article  |  2019  |  BioTechniques

We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencing libraries that offers a low-..

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

Aleksander Myszka, Nguyen-Dumont Tu, 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

Journal article  |  2018  |  FAMILIAL CANCER

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

Tu 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, David E Goldgar, Graham G Giles, Ingrid Winship, John L Hopper, Melissa C Southey

Journal article  |  2018  |  BMC Cancer

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

Nguyen-Dumont Tu, 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

Journal article  |  2018  |  BMC Medical Genetics

Hi-Plex for Simple, Accurate, and Cost-Effective Amplicon-based Targeted DNA Sequencing.

Bernard J Pope, Fleur Hammet, Tu Nguyen-Dumont, Daniel J Park

Book Chapter  |  2018  |  Methods in Molecular Biology

Hi-Plex is a suite of methods to enable simple, accurate, and cost-effective highly multiplex PCR-based targeted sequencing (Nguye..

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study

Maryam Mahmoodi, Nguyen-Dumont Tu, Fleur Hammet, Bernard J Pope, Daniel J Park, Melissa C Southey, John M Darlow, Fiona Bruinsma, Ingrid Winship

Journal article  |  2017  |  FAMILIAL CANCER

Proffered papers and posters presented at the Sixth International Symposium on Hereditary Breast and Ovarian Cancer—BRCA: Challenges and Opportunities: Presented by the Hereditary Breast and Ovarian Cancer Foundation in collaboration with the Program in Cancer Genetics, McGill University; Centre Mont-Royal, Montreal, QC; 10–13 May 2016.

Journal article  |  2016  |  Current Oncology

Multigene testing of moderate-risk genes: be mindful of the missense

EL Young, BJ Feng, AW Stark, F Damiola, G Durand, N Forey, TC Francy, A Gammon, WK Kohlmann, KA Kaphingst, S McKay-Chopin, T Nguyen-Dumont, J Oliver, AM Paquette, M Pertesi, N Robinot, JS Rosenthal, M Vallee, C Voegele, JL Hopper, et al.

Journal article  |  2016  |  Journal of Medical Genetics

Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients

Hanis Nazihah Hasmad, Kah Nyin Lai, Wei Xiong Wen, Daniel Jonathan Park, Tu Nguyen-Dumont, Peter Choon Eng Kang, Eswary Thirthagiri, Mahirah Ma'som, Boon Kiong Lim, Melissa Southey, Yin Ling Woo, Soo-Hwang Teo

Journal article  |  2016  |  Gynecologic Oncology

PALB2: research reaching to clinical outcomes for women with breast cancer

Melissa C Southey, Ingrid Winship, Nguyen-Dumont Tu

Journal article  |  2016  |  HEREDITARY CANCER IN CLINICAL PRACTICE

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing

Daniel J Park, Roger Li, Edmund Lau, Peter Georgeson, Nguyen-Dumont Tu, Bernard J Pope

Journal article  |  2016  |  BMC BIOINFORMATICS

Interpretation of genomic variation and disease association: the great missense mutation challenge!

Nguyen-Dumont Tu, Ingrid Winship, Melissa C Southey

Journal article  |  2015  |  Breast Cancer Research and Treatment

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots

T Nguyen-Dumont, M Mahmoodi, F Hammet, T Tran, H Tsimiklis, GG Giles, JL Hopper, MC Southey, DJ Park

Journal article  |  2015  |  Analytical Biochemistry

Rare genetic variants: making the connection with breast cancer susceptibility

Tu Nguyen-Dumont, Jenna Stewart, Ingrid Winship, Melissa C Southey

Journal article  |  2015  |  AIMS Genetics

Abridged adapter primers increase the target scope of Hi-Plex

Nguyen-Dumont Tu, Fleur Hammet, Maryam Mahmoodi, Bernard J Pope, Graham G Giles, Graham G Hopper, Melissa C Southey, Daniel J Park

Journal article  |  2015  |  BioTechniques

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

Nguyen-Dumont Tu, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Zhi L Teo, Roger Li, Bernard J Pope, Mary Beth Terry, Saundra S Buys, Mary Daly, John L Hopper, Ingrid Winship, David E Goldgar, Daniel J Park, Melissa C Southey

Journal article  |  2015  |  Breast Cancer Research and Treatment

Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome-Spectrum Cancers

Daniel J Park, Kayoko Tao, Florence Le Calvez-Kelm, Nguyen-Dumont Tu, Nivonirina Robinot, Fleur Hammet, Fabrice Odefrey, Helen Tsimiklis, Zhi L Teo, Louise B Thingholm, Erin L Young, Catherine Voegele, Andrew Lonie, Bernard J Pope, Terrell C Roane, Russell Bell, Hao Hu, undefined Shankaracharya, Chad D Huff, Jonathan Ellis, et al.

Journal article  |  2014  |  Cancer Discovery

ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets.

Bernard J Pope, Tú Nguyen-Dumont, Fleur Hammet, Daniel J Park

Journal article  |  2014  |  Source Code for Biology and Medicine

BACKGROUND: We recently described Hi-Plex, a highly multiplexed PCR-based target-enrichment system for massively parallel sequenci..

Annokey: an annotation tool based on key term search of the NCBI Entrez Gene database.

Daniel J Park, Tú Nguyen-Dumont, Sori Kang, Karin Verspoor, Bernard J Pope

Journal article  |  2014  |  Source Code for Biology and Medicine

BackgroundThe NCBI Entrez Gene and PubMed databases contain a wealth of high-quality information about genes for many different or..

Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing

Nguyen-Dumont Tu, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Melissa C Southey, Daniel J Park

Journal article  |  2013  |  ANALYTICAL BIOCHEMISTRY

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

Nguyen-Dumont Tu, Zhi L Teo, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Nelly Sabbaghian, Marc Tischkowitz, William D Foulkes, Graham G Giles, John L Hopper, Melissa C Southey, Daniel J Park

Journal article  |  2013  |  BMC MEDICAL GENOMICS

A high-plex PCR approach for massively parallel sequencing

Nguyen-Dumont Tu, Bernard J Pope, Fleur Hammet, Melissa C Southey, Daniel J Park

Journal article  |  2013  |  BIOTECHNIQUES

Tumour morphology predicts PALB2 germline mutation status

ZL Teo, E Provenzano, GS Dite, DJ Park, C Apicella, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, SS Buys, IL Andrulis, AM Mulligan, G Glendon, EM John, MB Terry, M Daly, FA Odefrey, et al.

Journal article  |  2013  |  BRITISH JOURNAL OF CANCER

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

Bernard J Pope, Nguyen-Dumont Tu, Fabrice Odefrey, Fleur Hammet, Russell Bell, Kayoko Tao, Sean V Tavtigian, David E Goldgar, Andrew Lonie, Melissa C Southey, Daniel J Park

Journal article  |  2013  |  BMC BIOINFORMATICS

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Zhi L Teo, Daniel J Park, Elena Provenzano, Catherine A Chatfield, Fabrice A Odefrey, Nguyen-Dumont Tu, James G Dowty, John L Hopper, Ingrid Winship, David E Goldgar, Melissa C Southey

Journal article  |  2013  |  Breast Cancer Research

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Melissa C Southey, Daniel J Park, Tu Nguyen-Dumont, Ian Campbell, Ella Thompson, Alison H Trainer, Georgia Chenevix-Trench, Jacques Simard, Martine Dumont, Penny Soucy, Mads Thomassen, Lars Jonson, Inge S Pedersen, Thomas VO Hansen, Heli Nevanlinna, Sofia Khan, Olga Sinilnikova, Sylvie Mazoyer, Fabienne Lesueur, Francesca Damiola, et al.

Journal article  |  2013  |  Breast Cancer Research

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Z Teo, DJ Park, E Provenzano, CA Chatfield, FA Odefrey, T Nguyen-Dumont, JG Dowty, J HOPPER, I Winship, D Goldgar, MC Southey

Journal article  |  2013  |  Breast Cancer Research

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

DJ Park, F Lesueur, T Nguyen-Dumont, M Pertesi, F Odefrey, F Hammet, SL Neuhausen, EM John, IL Andrulis, MB Terry, M Daly, S Buys, F Le Calvez-Kelm, A Lonie, BJ Pope, H Tsimiklis, C Voegele, FM Hilbers, N Hoogerbrugge, A Barroso, et al.

Journal article  |  2012  |  American Journal of Human Genetics

Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing.

R Blanc, A Jammot, T Nguyen-Dumont, ZL Teo, FA Odefrey, F Hammet, DE Goldgar, DJ Park, MC Southey

Journal article  |  2012  |  Hereditary Cancer in Clinical Practice

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

Tu Nguyen-Dumont, Lars P Jordheim, Jocelyne Michelon, Nathalie Forey, Sandrine McKay-Chopin, Olga Sinilnikova, Florence Le Calvez-Kelm, Melissa C Southey, Sean V Tavtigian, Fabienne Lesueur

Journal article  |  2011  |  BMC Medical Genomics

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

Florence Le Calvez-Kelm, Fabienne Lesueur, Francesca Damiola, Maxime Vallee, Catherine Voegele, Davit Babikyan, Geoffroy Durand, Nathalie Forey, Sandrine McKay-Chopin, Nivonirina Robinot, Tu Nguyen-Dumont, Alun Thomas, Graham B Byrnes, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian

Journal article  |  2011  |  Breast Cancer Research

Description and Validation of High-Throughput Simultaneous Genotyping and Mutation Scanning by High-Resolution Melting Curve Analysis

Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Nathalie Forey, Sandrine McKay-Chopin, Sonia Garritano, Lydie Gioia-Patricola, Deepika De Silva, Ron Weigel, Suleeporn Sangrajrang, Fabienne Lesueur, Sean V Tavtigian

Journal article  |  2009  |  Human Mutation

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

Sonia Garritano, Federica Gemignani, Catherine Voegele, Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Deepika De Silva, Fabienne Lesueur, Stefano Landi, Sean V Tavtigian

Journal article  |  2009  |  BMC Genetics

Differential Allelic Expression in Leukoblast from Patients with Acute Myeloid Leukemia Suggests Genetic Regulation of CDA, DCK, NT5C2, NT5C3, and TP53

LP Jordheim, T Nguyen-Dumont, X Thomas, C Dumontet, SV Tavtigian

Journal article  |  2008  |  Drug Metabolism and Disposition