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

por Southey, Melissa C., Winship, Ingrid, Nguyen-Dumont, Tú
Publicado en Hered Cancer Clin Pract (2016)

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

por Pope, Bernard J, Nguyen-Dumont, Tú, Hammet, Fleur, Park, Daniel J
Publicado 2014

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

por Park, Daniel J, Nguyen-Dumont, Tú, Kang, Sori, Verspoor, Karin, Pope, Bernard J
Publicado 2014

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

por Park, Daniel J., Li, Roger, Lau, Edmund, Georgeson, Peter, Nguyen-Dumont, Tú, Pope, Bernard J.
Publicado en BMC Bioinformatics (2016)

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

por Nguyen-Dumont, Tú, Pope, Bernard J., Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Southey, Melissa C., Park, Daniel J.
Publicado 2013

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

por Garritano, Sonia, Gemignani, Federica, Voegele, Catherine, Nguyen-Dumont, Tú, Le Calvez-Kelm, Florence, De Silva, Deepika, Lesueur, Fabienne, Landi, Stefano, Tavtigian, Sean V
Publicado 2009

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

por Nguyen-Dumont, Tú, Jordheim, Lars P, Michelon, Jocelyne, Forey, Nathalie, McKay-Chopin, Sandrine, Sinilnikova, Olga, Le Calvez-Kelm, Florence, Southey, Melissa C, Tavtigian, Sean V, Lesueur, Fabienne
Publicado 2011

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

por Pope, Bernard J, Nguyen-Dumont, Tú, Odefrey, Fabrice, Hammet, Fleur, Bell, Russell, Tao, Kayoko, Tavtigian, Sean V, Goldgar, David E, Lonie, Andrew, Southey, Melissa C, Park, Daniel J
Publicado 2013

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

por Nguyen-Dumont, Tú, Calvez-Kelm, Florence Le, Forey, Nathalie, McKay-Chopin, Sandrine, Garritano, Sonia, Gioia-Patricola, Lydie, De Silva, Deepika, Weigel, Ron, Sangrajrang, Suleeporn, Lesueur, Fabienne, Tavtigian, Sean V.
Publicado 2009

Association of variably methylated tumour DNA regions with overall survival for invasive lobular breast cancer

por Suman, Medha, Dugué, Pierre-Antoine, Wong, Ee Ming, Joo, JiHoon Eric, Hopper, John L., Nguyen-Dumont, Tu, Giles, Graham G., Milne, Roger L., McLean, Catriona, Southey, Melissa C.
Publicado en Clin Epigenetics (2021)

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

por Teo, Zhi L, Park, Daniel J, Provenzano, Elena, Chatfield, Catherine A, Odefrey, Fabrice A, Nguyen-Dumont, Tu, Dowty, James G, Hopper, John L, Winship, Ingrid, Goldgar, David E, Southey, Melissa C
Publicado 2013

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

por Nguyen-Dumont, Tú, Myszka, Aleksander, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C.
Publicado en BMC Med Genet (2018)

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

por Myszka, Aleksander, Nguyen-Dumont, Tu, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C.
Publicado en Fam Cancer (2017)

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

por Nguyen-Dumont, Tú, Teo, Zhi L, Pope, Bernard J, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Sabbaghian, Nelly, Tischkowitz, Marc, Foulkes, William D, Giles, Graham G, Hopper, John L, Southey, Melissa C, Park, Daniel J
Publicado 2013

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

por 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.
Publicado en Cancers (Basel) (2021)

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

por Nguyen-Dumont, Tú, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Teo, Zhi L., Li, Roger, Pope, Bernard J., Terry, Mary Beth, Buys, Saundra S., Daly, Mary, Hopper, John L., Winship, Ingrid, Goldgar, David E., Park, Daniel J., Southey, Melissa C.
Publicado en Breast Cancer Res Treat (2015)

Prospective Evaluation of the Addition of Polygenic Risk Scores to Breast Cancer Risk Models

por Li, Sherly X, Milne, Roger L, Nguyen-Dumont, Tu, Wang, Xiaochuan, English, Dallas R, Giles, Graham G, Southey, Melissa C, Antoniou, Antonis C, Lee, Andrew, Li, Shuai, Winship, Ingrid, Hopper, John L, Terry, Mary Beth, MacInnis, Robert J
Publicado en JNCI Cancer Spectr (2021)

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

por Nguyen-Dumont, Tú, Teo, Zhi L., Hammet, Fleur, Roberge, Alexis, Mahmoodi, Maryam, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Lonie, Andrew, Kapuscinski, Miroslav K., Mahmood, Khalid, Goldgar, David E., Giles, Graham G., Winship, Ingrid, Hopper, John L., Southey, Melissa C.
Publicado en BMC Cancer (2018)

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

por Nguyen-Dumont, Tu, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Steen, Jason A., Theys, Derrick, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Stembalska, Agnieszka, Pesz, Karolina, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C., Myszka, Aleksander
Publicado en Genet Res (Camb) (2020)

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

por Le Calvez-Kelm, Florence, Lesueur, Fabienne, Damiola, Francesca, Vallée, Maxime, Voegele, Catherine, Babikyan, Davit, Durand, Geoffroy, Forey, Nathalie, McKay-Chopin, Sandrine, Robinot, Nivonirina, Nguyen-Dumont, Tù, Thomas, Alun, Byrnes, Graham B, Hopper, John L, Southey, Melissa C, Andrulis, Irene L, John, Esther M, Tavtigian, Sean V
Publicado 2011