Daniel Park

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

Fadwa A Elsayed, Judith E Grolleman, Abiramy Ragunathan, Daniel D Buchanan, Tom van Wezel, Richarda M de Voer

Journal article  |  2020  |  GASTROENTEROLOGY

Rare germline genetic variants and risk of aggressive prostate cancer

Tu Nguyen-Dumont, Robert J MacInnis, Jason A Steen, Derrick Theys, Helen Tsimiklis, Fleur Hammet, Maryam Mahmoodi, Bernard J Pope, Daniel J Park, Khalid Mahmood, Gianluca Severi, Damien Bolton, Roger L Milne, Graham G Giles, Melissa C Southey

Journal article  |  2020  |  INTERNATIONAL JOURNAL OF CANCER

Few genetic risk factors have been demonstrated to be specifically associated with aggressive prostate cancer (PrCa). Here, we rep..

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..

Genetic testing in Poland and Ukraine: should comprehensive germline testing ofBRCA1andBRCA2be recommended for women with breast and ovarian cancer?

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

Journal article  |  2020  |  GENETICS RESEARCH

PURPOSE: To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukr..

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-..

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

Chol-Hee Jung, Daniel J Park, Peter Georgeson, Khalid Mahmood, Roger L Milne, Melissa C Southey, Bernard J Pope

Journal article  |  2018  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

DNA methylation influences predisposition, development and prognosis for many diseases, including cancer. However, it is not uncom..

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

Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this s..

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

BACKGROUND: Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in famili..

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

BACKGROUND: FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they ..

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..