Paul James

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Hanla A Park, Sonja Neumeyer, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Adinda Baten, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, et al.

Journal article  |  2021  |  BRITISH JOURNAL OF CANCER

BACKGROUND: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies..

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

Daniel R Barnes, Valentina Silvestri, Goska Leslie, Lesley McGuffog, Joe Dennis, Xin Yang, Julian Adlard, Bjarni A Agnarsson, Munaza Ahmed, Kristiina Aittomäki, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Bernd Auber, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Daniel Barrowdale, Julian Barwell, Muriel Belotti, et al.

Journal article  |  2021  |  J Natl Cancer Inst

BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We a..

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Mark A Jenkins

Journal article  |  2021  |  LANCET ONCOLOGY

BACKGROUND: Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome..

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study

Na Li, Belle WX Lim, Ella R Thompson, Simone McInerny, Magnus Zethoven, Dane Cheasley, Simone M Rowley, Michelle W Wong-Brown, Lisa Devereux, Kylie L Gorringe, Erica K Sloan, Alison Trainer, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2021  |  NPJ BREAST CANCER

Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in the majority of high-r..

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 ..

Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model

Eryn Dow, Alison Freimund, Kortnye Smith, Rodney J Hicks, Peter Jurcevic, Mark Shackleton, Paul A James, Andrew Fellowes, Martin B Delatycki, Susan Fawcett, Nicola Flowers, Mark D Pertile, George McGillivray, Linda Mileshkin

Journal article  |  2021  |  JCO Precision Oncology

Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosomal aneuploidy using cell-free DNA derived from maternal..

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..