Paul James

The economic impact of sudden cardiac arrest

Elizabeth D Paratz, Karen Smith, Jocasta Ball, Alexander van Heusden, Dominica Zentner, Sarah Parsons, Natalie Morgan, Tina Thompson, Paul James, Andreas Pflaumer, Christopher Semsarian, Dion Stub, Danny Liew, Andre La Gerche

Journal article  |  2021  |  RESUSCITATION

BACKGROUND: There are 20,000 sudden cardiac arrests (SCAs) in Australia annually, with 90% case-fatality. OBJECTIVE: The present s..

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

Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutierrez-Enriquez, Alejandro Moles-Fernandez, 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, et al.

Journal article  |  2021  |  NPJ BREAST CANCER

Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor s..

Oncologists' perspectives of telephone genetic counseling to facilitate germline BRCA1/2 testing for their patients with high-grade serous ovarian cancer

Pierre Hemming, Rajneesh Kaur, Bettina Meiser, Joanne McKinley, Mary-Anne Young, Paul A James, Laura E Forrest

Journal article  |  2021  |  JOURNAL OF COMMUNITY GENETICS

Poly ADP ribose polymerase (PARP) inhibitors offer a survival advantage to women with high-grade serous ovarian cancer who have a ..

The End Unexplained Cardiac Death (EndUCD) Registry for Young Australian Sudden Cardiac Arrest

Elizabeth D Paratz, Luke Rowsell, Alexander van Heusden, Dominica Zentner, Sarah Parsons, Natalie Morgan, Tina Thompson, Paul James, Andreas Pflaumer, Christopher Semsarian, Jodie Ingles, Rosalind Case, Jocasta Ball, Karen Smith, Dion Stub, Andre La Gerche

Journal article  |  2021  |  HEART LUNG AND CIRCULATION

In 2019, the first multi-source registry of sudden cardiac arrest and death for patients aged 1-50 years launched in Victoria, Aus..

Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice

Bettina Meiser, Rajneesh Kaur, April Morrow, Michelle Peate, WK Tim Wong, Emily McPike, Elisa Cops, Cassandra Nichols, Rachel Austin, Miriam Fine, Letitia Thrupp, Robyn Ward, Finlay Macrae, Janet E Hiller, Alison H Trainer, Gillian Mitchell

Journal article  |  2021  |  HEREDITARY CANCER IN CLINICAL PRACTICE

BACKGROUND: This nationwide study assessed the impact of nationally agreed cancer genetics guidelines on use of BRCA1/2 germline t..

Common Susceptibility Loci for Male Breast Cancer

Sarah Maguire, Eleni Perraki, Katarzyna Tomczyk, Michael E Jones, Olivia Fletcher, Matthew Pugh, Timothy Winter, Kyle Thompson, Rosie Cooke, Alison Trainer, Paul James, Stig Bojesen, Henrik Flyger, Heli Nevanlinna, Johanna Mattson, Eitan Friedman, Yael Laitman, Domenico Palli, Giovanna Masala, Ines Zanna, et al.

Journal article  |  2021  |  JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

BACKGROUND: The etiology of male breast cancer (MBC) is poorly understood. In particular, the extent to which the genetic basis of..

Genetic testing in dementia-A medical genetics perspective

Aamira J Huq, Adrienne Sexton, Paul Lacaze, Colin L Masters, Elsdon Storey, Dennis Velakoulis, Paul A James, Ingrid M Winship

Journal article  |  2021  |  INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY

OBJECTIVE: When a genetic cause is suspected in a person with dementia, it creates unique diagnostic and management challenges to ..

Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre

Catherine Beard, Katrina Monohan, Linda Cicciarelli, Paul A James

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The demand for genetic testing of hereditary breast cancer genes such as BRCA1 and BRCA2 has continued to increase with the loweri..

Communicating polygenic risk scores in the familial breast cancer clinic.

Kuheli Das Gupta, Gillian Gregory, Bettina Meiser, Rajneesh Kaur, Maatje Scheepers-Joynt, Simone McInerny, Shelby Taylor, Kristine Barlow-Stewart, Yoland Antill, Lucinda Salmon, Courtney Smyth, Aideen McInerney-Leo, Mary-Anne Young, Paul A James, Tatiane Yanes

Journal article  |  2021  |  Patient Education and Counseling

OBJECTIVE: To describe the communication of polygenic risk scores (PRS) in the familial breast cancer setting. METHODS: Consultati..

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A O'Mara, Joe Dennis, Jonathan P Tyrer, Daniel R Barnes, Lesley McGuffog, Goska Leslie, Manjeet K Bolla, Muriel A Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomaeki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J Aronson, Banu K Arun, et al.

Journal article  |  2021  |  NATURE COMMUNICATIONS

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants hav..