Publications by authors named "Finlay A Macrae"

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The Effect of Butyrylated Starch on Bowel Polyps in Familial Adenomatous Polyposis: Results of a Randomized, Double-blind, Placebo-Controlled Crossover Trial.
Julie M Clarke, Trevor J Lockett, Karen L Harrap, Brooke E Flanders, Virginia Bird, Finlay A Macrae

Cancer Prev Res (Phila)· November 2025

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The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures.
Daniel D Buchanan, Peter Georgeson, Romy Walker, Jihoon E Joo, Mark Clendenning, Finlay A Macrae

Fam Cancer· November 2025

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Age-specific trends in colorectal, appendiceal, and anal tumour incidence by histological subtype in Australia from 1990 to 2020: a population-based time-series analysis.
Aaron L Meyers, James G Dowty, Khalid Mahmood, Finlay A Macrae, Christophe Rosty

Lancet Reg Health West Pac· November 2025

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A prediction model for metachronous colorectal cancer: development and validation.
Ye Zhang, Amalia Karahalios, Aung Ko Win, Enes Makalic, Alex Boussioutas, Finlay A Macrae

J Natl Cancer Inst· October 2025

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Intratumoural pksEscherichia coli is associated with risk of metachronous colorectal cancer and adenoma development in people with Lynch syndrome.
Yen Lin Chu, Peter Georgeson, Mark Clendenning, Khalid Mahmood, Romy Walker, Finlay A Macrae

EBioMedicine· April 2025

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Age-specific trends in colorectal, appendiceal, and anal tumour incidence by histological subtype in Australia from 1990 to 2020: a population-based time-series analysis.
Aaron L Meyers, James G Dowty, Khalid Mahmood, Finlay A Macrae, Christophe Rosty

medRxiv· April 2025

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Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.
Romy Walker, Jihoon E Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Finlay A Macrae

Transl Oncol· February 2025

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Menopausal hormone therapy: assessing associations with breast and colorectal cancers by familial risk.
Robert J MacInnis, Mark A Jenkins, Roger L Milne, Esther M John, Mary B Daly, Finlay A Macrae

JNCI Cancer Spectr· January 2025

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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, Finlay A Macrae

Am J Hum Genet· November 2024

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Adenomas from individuals with pathogenic biallelic variants in the and genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.
Romy Walker, Jihoon E Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Finlay A Macrae

medRxiv· August 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, Finlay A Macrae

medRxiv· May 2024

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Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
James M Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Finlay A Macrae

Fam Cancer· March 2024

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Intratumoral presence of the genotoxic gut bacteria pks E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer.
Jihoon E Joo, Yen Lin Chu, Peter Georgeson, Romy Walker, Khalid Mahmood, Finlay A Macrae

Br J Cancer· March 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, Finlay A Macrae

Genet Med· February 2024

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Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.
Peter Georgeson, Robert S Steinfelder, Tabitha A Harrison, Bernard J Pope, Syed H Zaidi, Finlay A Macrae

medRxiv· January 2024

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A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.
Romy Walker, Mark Clendenning, Jihoon E Joo, Jessie Xue, Khalid Mahmood, Finlay A Macrae

Fam Cancer· October 2023

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DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Romy Walker, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E Joo, Finlay A Macrae

Cancers (Basel)· October 2023

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Germline mutations in could be associated with serrated polyposis syndrome.
Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Finlay A Macrae

J Med Genet· June 2023

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Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Jihoon E Joo, Khalid Mahmood, Romy Walker, Peter Georgeson, Ida Candiloro, Finlay A Macrae

Clin Epigenetics· June 2023

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Finlay A Macrae

J Transl Med· April 2023

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Finlay A Macrae

medRxiv· March 2023

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Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.
Romy Walker, Peter Georgeson, Khalid Mahmood, Jihoon E Joo, Enes Makalic, Finlay A Macrae

J Mol Diagn· February 2023

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Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study.
Emma Anthony, Jeanette C Reece, Elasma Milanzi, Jihoon E Joo, Sharelle Joseland, Finlay A Macrae

BMC Gastroenterol· November 2022

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The Effects of the COVID Pandemic on Patients with IBD: Lessons Learned and Future Directions.
Eva Zhang, Britt Christensen, Finlay Alistair Macrae, Rupert Leong

J Clin Med· November 2022

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Misconceptions Drive COVID-19 Vaccine Hesistancy in Individuals with Inflammatory Bowel Disease.
Eva Zhang, Arun Gupta, Aysha Al-Ani, Finlay A Macrae, Rupert W Leong

Can J Gastroenterol Hepatol· September 2022

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