Paul James

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.

Emma Tudini, Aimee L Davidson, Uwe Dressel, Lesley Andrews, Yoland Antill, Ashley Crook, Michael Field, Michael Gattas, Rebecca Harris, Judy Kirk, Nicholas Pachter, Lucinda Salmon, Rachel Susman, Sharron Townshend, Alison H Trainer, Katherine M Tucker, Gillian Mitchell, Paul A James, Robyn L Ward, Helen Mar Fan, et al.

Journal article  |  2020  |  Journal of Medical Genetics

BACKGROUND: The strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the ..

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

Taru A Muranen, Sofia Khan, Rainer Fagerholm, Kristiina Aittomaeki, Julie M Cunningham, Joe Dennis, Goska Leslie, Lesley McGuffog, Michael T Parsons, Jacques Simard, Susan Slager, Penny Soucy, Douglas F Easton, Marc Tischkowitz, Amanda B Spurdle, Rita K Schmutzler, Barbara Wappenschmidt, Eric Hahnen, Maartje J Hooning, Christian F Singer, et al.

Journal article  |  2020  |  npj Breast Cancer

Abstract Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor ..

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, undefined kConFab Consortium, Alison Trainer, Paul James, Stig Bojesen, Henrik Flyger, Heli Nevanlinna, Johanna Mattson, Eitan Friedman, Yael Laitman, Domenico Palli, Giovanna Masala, et al.

Journal article  |  2020  |  Journal of the National Cancer Institute

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

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Valentina Silvestri, Goska Leslie, Daniel R Barnes, undefined CIMBA Group, Bjarni A Agnarsson, Kristiina Aittomäki, Elisa Alducci, Irene L Andrulis, Rosa B Barkardottir, Alicia Barroso, Daniel Barrowdale, Javier Benitez, Bernardo Bonanni, Ake Borg, Saundra S Buys, Trinidad Caldés, Maria A Caligo, Carlo Capalbo, Ian Campbell, Wendy K Chung, et al.

Journal article  |  2020  |  JAMA Oncology

Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the..

The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients

M Gleeson, M Kentwell, B Meiser, J Do, S Nevin, N Taylor, K Barlow-Stewart, J Kirk, P James, CL Scott, R Williams, K Gamet, J Burke, M Murphy, YC Antill, A Pearn, N Pachter, C Ebzery, N Poplawski, M Friedlander, et al.

Journal article  |  2020  |  Gynecologic Oncology

BACKGROUND: BRCA1/2 mutation status has increasing relevance for ovarian cancer treatments, making traditional coordination of gen..

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R Barnes, Matti A Rookus, Lesley McGuffog, Goska Leslie, Thea M Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomaki, Nadine Andrieu, Irene L Andrulis, Norbert Arnold, Banu K Arun, Jacopo Azzollini, Judith Balmana, Rosa B Barkardottir, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian c..

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Johanna C Herkert, Judith MA Verhagen, Raquel Yotti, Alireza Haghighi, Dean G Phelan, Paul A James, Natasha J Brown, Chloe Stutterd, Ivan Macciocca, Kai'En Leong, Marian LC Bulthuis, Yolande van Bever, Marjon A van Slegtenhorst, Ludolf G Boven, Amy E Roberts, Radhika Agarwal, Jonathan Seidman, Neal K Lakdawala, Francisco Fernandez-Aviles, Michael A Burke, et al.

Journal article  |  2020  |  American Heart Journal

INTRODUCTION: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with man..

Germline mutations in new susceptibility genes for non-high-grade serous ovarian cancer.

Marina Pavanello, Ed Dicks, Honglin Song, Amir Ariff, Adelyn Bolithon, Maria P Intermaggio, Mark Pinese, Kirsten Moysich, Kunle O Odunsi, Ellen Goode, David D Bowtell, Peter Fasching, Jennifer A Doherty, Francesmary Modugno, Susanne K Kjaer, Penelope M Webb, Anna Wu, Anna deFazio, Paul James, Deepak Subramanian, et al.

Conference Proceedings  |  2020  |  CLINICAL CANCER RESEARCH

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals

Paul Lacaze, Robert Sebra, Moeen Riaz, Jane Tiller, Jerico Revote, James Phung, Emily J Parker, Suzanne G Orchard, Jessica E Lockery, Rory Wolfe, Maya Strahl, Ying C Wang, Rong Chen, Daniel Sisco, Todd Arnold, Bryony A Thompson, Daniel D Buchanan, Finlay A Macrae, Paul A James, Walter P Abhayaratna, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly individ..

Suggested application of HER2 breast tumor phenotype for germlineTP53variant classification within ACMG/AMP guidelines

Cristina Fortuno, Jessica Mester, Tina Pesaran, Jeffrey N Weitzel, Jill Dolinsky, Amal Yussuf, Kelly McGoldrick, Judy E Garber, Sharon A Savage, Payal P Khincha, D Gareth Evans, Maria Isabel Achatz, Kim E Nichols, Kara N Maxwell, Joshua D Schiffman, Renata Sandoval, Paul A James, Amanda B Spurdle

Journal article  |  2020  |  Human Mutation

Early onset breast cancer is the most common malignancy in women with Li-Fraumeni syndrome, caused by germline TP53 pathogenic var..