Heather Thorne

ATM mutations are associated with high-risk pathology in a cohort of men with familial prostate cancer

Romy Mondschein, Damien Bolton, David Clouston, Declan Murphy, Prudence Scott, Renea Taylor, Heather Thorne

Conference Proceedings  |  2022  |  BJU INTERNATIONAL

Tumor immune microenvironment of primary prostate cancer with and without germline mutations in homologous recombination repair genes

Anna Sofia Trigos, Anupama Pasam, Patricia Banks, Roslyn Wallace, Christina Guo, Simon Keam, Heather Thorne, Catherine Mitchell, Stephen Lade, David Clouston, Alexander Hakansson, Yang Liu, Benjamin Blyth, Declan Murphy, Nathan Lawrentschuk, Damien Bolton, Daniel Moon, Phil Darcy, Ygal Haupt, Scott G Williams, et al.

Journal article  |  2022  |  JOURNAL FOR IMMUNOTHERAPY OF CANCER

BACKGROUND: Aberrations in homologous recombination repair (HRR) genes are emerging as important biomarkers for personalized treat..

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

Nasim Mavaddat, Leila Dorling, Sara Carvalho, Jamie Allen, Anna Gonzalez-Neira, Renske Keeman, Manjeet K Bolla, Joe Dennis, Qin Wang, Thomas U Ahearn, Irene L Andrulis, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia Bogdanova, Stig E Bojesen, Ignacio Briceno, Thomas Bruning, et al.

Journal article  |  2022  |  JAMA ONCOLOGY

IMPORTANCE: Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their preci..

Weight is More Informative than Body Mass Index for Predicting Postmenopausal Breast Cancer Risk: Prospective Family Study Cohort (ProF-SC)

Zhoufeng Ye, Shuai Li, Gillian S Dite, Tuong L Nguyen, Robert J MacInnis, Irene L Andrulis, Saundra S Buys, Mary B Daly, Esther M John, Allison W Kurian, Jeanine M Genkinger, Wendy K Chung, Kelly-Anne Phillips, Heather Thorne, Ingrid M Winship, Roger L Milne, Pierre-Antoine Dugue, Melissa C Southey, Graham G Giles, Mary Beth Terry, et al.

Journal article  |  2022  |  CANCER PREVENTION RESEARCH

UNLABELLED: We considered whether weight is more informative than body mass index (BMI) = weight/height2 when predicting breast ca..

Rare germline copy number variants (CNVs) and breast cancer risk

Joe Dennis, Jonathan P Tyrer, Logan C Walker, Kyriaki Michailidou, Leila Dorling, Manjeet K Bolla, Qin Wang, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Laura E Beane Freeman, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia Bogdanova, Stig E Bojesen, et al.

Journal article  |  2022  |  COMMUNICATIONS BIOLOGY

Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not ..

Value of the loss of heterozygosity to BRCA1 variant classification

Elizabeth Santana dos Santos, Amanda B Spurdle, Dirce M Carraro, Adrien Briaux, Melissa Southey, Giovana Torrezan, Ambre Petitalot, Raphael Leman, Philippe Lafitte, Didier Meseure, Keltouma Driouch, Lucy Side, Carole Brewer, Sarah Beck, Athalie Melville, Alison Callaway, Francoise Revillion, Maria AA Koike Folgueira, Michael T Parsons, Heather Thorne, et al.

Journal article  |  2022  |  NPJ BREAST CANCER

At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic varia..

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi, Paolo Radice, Mads Thomassen, Thomas VO Hansen, Anne-Marie Gerdes, Henriette R Nielsen, Sandrine M Caputo, Alberto Zambelli, Ake Borg, Angela Solano, Abigail Thomas, Michael T Parsons, Antonis C Antoniou, Goska Leslie, Xin Yang, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no st..

Pattern of invasion in stage I mucinous ovarian cancer is prognostic within 2-years of diagnosis

Nicola Meagher, Martin Koebel, Lyndal Anderson, Adeline Tan, Adelyn Bolithon, Michael Anglesio, Paul Cohen, Philip Crowe, Jennifer Doherty, Peter Fasching, Holly Harris, Estrid Hogdall, David Huntsman, Paul James, Beth Karlan, Linda Kelemen, Stefan Kommoss, Gottfried Konecny, Kylie Gorringe, Francesmary Modugno, et al.

Conference Proceedings  |  2021  |  ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY

The MURAL collection of prostate cancer patient-derived xenografts enables discovery through preclinical models of uro-oncology

Gail P Risbridger, Ashlee K Clark, Laura H Porter, Roxanne Toivanen, Andrew Bakshi, Natalie L Lister, David Pook, Carmel J Pezaro, Shahneen Sandhu, Shivakumar Keerthikumar, Rosalia Quezada Urban, Melissa Papargiris, Jenna Kraska, Heather B Madsen, Hong Wang, Michelle G Richards, Birunthi Niranjan, Samantha O'Dea, Linda Teng, William Wheelahan, et al.

Journal article  |  2021  |  NATURE COMMUNICATIONS

Preclinical testing is a crucial step in evaluating cancer therapeutics. We aimed to establish a significant resource of patient-d..

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..