Publications by authors named "Victoria Beshay"

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Novel Case of Bilateral Adrenal Tumors Confirms Pathogenicity of Previously Described c.463+4C>G Variant in the von-Hippel Lindau Gene.
Samuel Morriss, Victoria Beshay, Huei San Leong, Ingrid Winship

J Kidney Cancer VHL· March 2025

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Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Cristina Fortuno, Elisa J Cops, Aimee L Davidson, Johanna Hadler, Giovanni Innella, Victoria Beshay

Eur J Hum Genet· December 2024

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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Victoria Beshay

Am J Hum Genet· November 2024

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Adrenal tumours in patients with pathogenic APC mutations: a retrospective study.
Lyman Lin, Victoria Beshay, Finlay Macrae

Hered Cancer Clin Pract· September 2024

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Systematic large-scale application of ClinGen InSiGHT -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Victoria Beshay

medRxiv· May 2024

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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Isabel Spier, Xiaoyu Yin, Marcy Richardson, Marta Pineda, Andreas Laner, Victoria Beshay

Genet Med· February 2024

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Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F Bennett, Natasha J Brown, Victoria Beshay

Hum Mutat· December 2022

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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Emma Tudini, James Andrews, David M Lawrence, Sarah L King-Smith, Naomi Baker, Victoria Beshay

Am J Hum Genet· November 2022

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TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members.
Rachel Delahunty, Linh Nguyen, Stuart Craig, Belinda Creighton, Dinuka Ariyaratne, Victoria Beshay

J Clin Oncol· June 2022

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Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity.
Cristina Fortuno, Kelly McGoldrick, Tina Pesaran, Jill Dolinsky, Lily Hoang, Victoria Beshay

Genet Med· March 2022

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Victoria Beshay

Genet Med· January 2022

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Insights into ovarian cancer care: report from the ANZGOG Ovarian Cancer Webinar Series 2020.
Andreas Obermair, Philip Beale, Clare L Scott, Victoria Beshay, Ganessan Kichenadasse

J Gynecol Oncol· November 2021

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Report of a bi-allelic truncating germline mutation in TP53.
Natasha J Brown, Kanika Bhatia, Julie Teague, Susan M White, Patrick Lo, Victoria Beshay

Fam Cancer· January 2019

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Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
Mandy L Ballinger, David L Goode, Isabelle Ray-Coquard, Paul A James, Gillian Mitchell, Victoria Beshay

Lancet Oncol· September 2016

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Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.
Paul A James, Sarah Sawyer, Samantha Boyle, Mary-Anne Young, Serguei Kovalenko, Victoria Beshay

Fam Cancer· June 2015

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Applicability of next generation sequencing technology in microsatellite instability testing.
Chun Gan, Clare Love, Victoria Beshay, Finlay Macrae, Stephen Fox

Genes (Basel)· February 2015

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Metastatic gastrointestinal stromal tumour of the ileum with dual primary c-KIT missence mutations.
Laeeq Malik, Christine Hemmings, Victoria Beshay, Stephen Fox, Desmond Yip

Pathology· October 2013

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Anaplastic oligodendroglioma in an adolescent with Lynch syndrome.
John A Heath, Jessica Ng, Victoria Beshay, Lee Coleman, Patrick Lo

Pediatr Blood Cancer· June 2013

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A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Heather L Hondow, Stephen B Fox, Gillian Mitchell, Rodney J Scott, Victoria Beshay

BMC Cancer· June 2011

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Patients with multiple myeloma treated with thalidomide: evaluation of clinical parameters, cytokines,angiogenic markers, mast cells and marrow CD57+ cytotoxic T cells as predictors of outcome.
Linda Mileshkin, Dirk Honemann, Peter Gambell, Melanie Trivett, Yoshihiro Hayakawa, Victoria Beshay

Haematologica· August 2007

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Resistance to imatinib, low-grade FDG-avidity on PET, and acquired KIT exon 17 mutation in gastrointestinal stromal tumour.
Florian Grimpen, Desmond Yip, Grant McArthur, Paul Waring, David Goldstein, Victoria Beshay

Lancet Oncol· September 2005

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Cerebral relapse of metastatic gastrointestinal stromal tumor during treatment with imatinib mesylate: case report.
Brett Hughes, Desmond Yip, David Goldstein, Paul Waring, Victoria Beshay

BMC Cancer· October 2004

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