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Author Details

Heather Thorne
Peter MacCallum Cancer Centre
1982
59
29
PMIDPaper TitleJournal TitlePublished Year
36849657Multiomic analysis of homologous recombination-deficient end-stage high-grade serous ovarian cancer.Nat Genet2023
36972661Impact of concurrent tumour events on the prostate cancer outcomes of germline BRCA2 mutation carriers.Eur J Cancer2023
36999648BRCA1 and BRCA2 carriers with breast, ovarian and prostate cancer demonstrate a different pattern of metastatic disease compared with non-carriers: results from a rapid autopsy programme.Histopathology2023
36656928Heritable defects in telomere and mitotic function selectively predispose to sarcomas.Science2023
34965921Weight is More Informative than Body Mass Index for Predicting Postmenopausal Breast Cancer Risk: Prospective Family Study Cohort (ProF-SC).Cancer Prev Res (Phila)2022
35764368Tumor immune microenvironment of primary prostate cancer with and without germline mutations in homologous recombination repair genes.J Immunother Cancer2022
35855555Novel germline mutations for active surveillance and imaging strategies in prostate cancer.Curr Opin Urol2022
35892882Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.Cancers (Basel)2022
36222710Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes.Clin Cancer Res2022
36010941Targeting MDM4 as a Novel Therapeutic Approach in Prostate Cancer Independent of p53 Status.Cancers (Basel)2022
35039532Value of the loss of heterozygosity to BRCA1 variant classification.NPJ Breast Cancer2022
34906479Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.Genet Med2022
35084436Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.JAMA Oncol2022
34413304The MURAL collection of prostate cancer patient-derived xenografts enables discovery through preclinical models of uro-oncology.Nat Commun2021
33626496Association between BRCA2 alterations and intraductal and cribriform histologies in prostate cancer.Eur J Cancer2021
33664264Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.Nat Commun2021
31949161A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.Nat Commun2020
31090900Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.Ann Oncol2019
31794678A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review.Biopreserv Biobank2019
30894541Multiple ABCB1 transcriptional fusions in drug resistant high-grade serous ovarian and breast cancer.Nat Commun2019
28977728Intraductal carcinoma of the prostate can evade androgen deprivation, with emergence of castrate-tolerant cells.BJU Int2018
30049486Patient-derived Models of Abiraterone- and Enzalutamide-resistant Prostate Cancer Reveal Sensitivity to Ribosome-directed Therapy.Eur Urol2018
29429804Clinical Outcome of Prostate Cancer Patients with Germline DNA Repair Mutations: Retrospective Analysis from an International Study.Eur Urol2018
27171545Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab.Genet Med2017
35172485Circulating Tumor DNA Analysis and Functional Imaging Provide Complementary Approaches for Comprehensive Disease Monitoring in Metastatic Melanoma.JCO Precis Oncol2017
28430777Correction: The Subclonal Architecture of Metastatic Breast Cancer: Results from a Prospective Community-Based Rapid Autopsy Program "CASCADE".PLoS Med2017
28067867Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories.Nat Commun2017
28027312The Subclonal Architecture of Metastatic Breast Cancer: Results from a Prospective Community-Based Rapid Autopsy Program "CASCADE".PLoS Med2016
26534844Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.J Med Genet2016
26585945Searching for candidate genes in familial BRCAX mutation carriers with prostate cancer.Urol Oncol2016
27617737A community-based model of rapid autopsy in end-stage cancer patients.Nat Biotechnol2016
24784491Altered significance of D'Amico risk classification in patients with prostate cancer linked to a familial breast cancer (kConFab) cohort.BJU Int2015
26503049Corrigendum: Whole-genome characterization of chemoresistant ovarian cancer.Nature2015
26529019"Cancer 2015": A Prospective, Population-Based Cancer Cohort-Phase 1: Feasibility of Genomics-Guided Precision Medicine in the Clinic.J Pers Med2015
26017449Whole-genome characterization of chemoresistant ovarian cancer.Nature2015
25154392Patient-derived xenografts reveal that intraductal carcinoma of the prostate is a prominent pathology in BRCA2 mutation carriers with prostate cancer and correlates with poor prognosis.Eur Urol2015
24489791Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.PLoS One2014
22975758Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer.Genet Med2013
23853209Diagnostic chest X-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers.Cancer Epidemiol Biomarkers Prev2013
22374981Intragenic ATM methylation in peripheral blood DNA as a biomarker of breast cancer risk.Cancer Res2012
23028338Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.PLoS Genet2012
23035815High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.BJU Int2012
21733824Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families.Cancer Prev Res (Phila)2011
22043063International expert consensus on primary systemic therapy in the management of early breast cancer: highlights of the Fourth Symposium on Primary Systemic Therapy in the Management of Operable Breast Cancer, Cremona, Italy (2010).J Natl Cancer Inst Monogr2011
22043047kConFab: a familial breast cancer consortium facilitating research and translational oncology.J Natl Cancer Inst Monogr2011
19724277BRCA1 tumours correlate with a HIF-1alpha phenotype and have a poor prognosis through modulation of hydroxylase enzyme profile expression.Br J Cancer2009
19648928Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers.Nat Med2009
18445692Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation.Clin Cancer Res2008
16507150Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.Breast Cancer Res2006
17064299Histopathological features of breast cancer in carriers of ATM gene variants.Histopathology2006
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Collaborators

Co-authored papers 12
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Biomedicine Discovery Institute, Monash University
Co-authored papers 6
University of Toronto
Co-authored papers 6
Peter MacCallum Cancer Centre
Co-authored papers 6
Monash University
Co-authored papers 5
Co-authored papers 5
Co-authored papers 5
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The University of Melbourne
Co-authored papers 4
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QIMR Berghofer Medical Research Institute
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Westmead Hospital
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Ovarian Cancer Action Research Centre, Imperial College London
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