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List of works by Daniel D Buchanan

A combined proteomics and Mendelian randomization approach to investigate the effects of aspirin-targeted proteins on colorectal cancer

scientific article published on 14 December 2020

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

scientific article published on 11 October 2012

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

scientific article published on 20 May 2015

Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history

scientific article published on 01 October 2019

Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression

scientific article published on 27 September 2012

Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers

scientific article

An integrated mass spectrometry imaging and digital pathology workflow for objective detection of colorectal tumours by unique atomic signatures ⬇️

scientific article published on 4 August 2021

Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis.

scientific article published on 25 February 2009

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

scientific article published on 22 February 2013

Aspirin, Ibuprofen, and the Risk of Colorectal Cancer in Lynch Syndrome

scientific article

Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study

scientific article published on 24 March 2018

Association Between Molecular Subtypes of Colorectal Tumors and Patient Survival, Based on Pooled Analysis of 7 International Studies

scientific article published on 20 February 2020

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

scientific article published on 14 May 2019

Association between body mass index and mortality for colorectal cancer survivors: overall and by tumor molecular phenotype

scientific article published on 2 June 2015

Association between hypermethylation of DNA repetitive elements in white blood cell DNA and early-onset colorectal cancer

scientific article published on 17 June 2013

Association between hypermethylation of DNA repetitive elements in white blood cell DNA and pancreatic cancer

article

Association between molecular subtypes of colorectal cancer and patient survival ⬇️

scientific article

Association of APOE with Parkinson disease age-at-onset in women

scientific article published on 17 November 2006

Association of DNA Methylation-Based Biological Age with Health Risk Factors, and Overall and Cause-Specific Mortality

scientific article published on 17 August 2017

Association of the colorectal CpG island methylator phenotype with molecular features, risk factors, and family history

scientific article

Associations of alcohol intake, smoking, physical activity and obesity with survival following colorectal cancer diagnosis by stage, anatomic site and tumor molecular subtype

scientific article published on 16 September 2017

BRAF mutation status and survival after colorectal cancer diagnosis according to patient and tumor characteristics

scientific article

Body size and risk for colorectal cancers showing BRAF mutations or microsatellite instability: a pooled analysis

scientific article published on 24 April 2012

Cancer Risks for PMS2-Associated Lynch Syndrome

scientific article published on 30 August 2018

Cancer Risks for Relatives of Patients With Serrated Polyposis ⬇️

scientific article published on April 24, 2012

Cancer risks for MLH1 and MSH2 mutation carriers

scientific article

Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer

scientific article

Cancer risks for the relatives of colorectal cancer cases with a methylated MLH1 promoter region: data from the Colorectal Cancer Family Registry

scientific article

Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer

scientific article

Cholecystectomy and the risk of colorectal cancer by tumor mismatch repair deficiency status.

scientific article published on 10 June 2016

Circulating 25-hydroxyvitamin D concentration and risk of breast, prostate, and colorectal cancers: the Melbourne Collaborative Cohort Study

scientific article published on 06 March 2019

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

scientific article published on May 2009

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)

scientific article

Clinico-pathological predictors of mismatch repair deficiency in sebaceous neoplasia: A large case series from a single Australian private pathology service

scientific article published on 02 December 2018

Clinicopathologic Risk Factor Distributions for MLH1 Promoter Region Methylation in CIMP-Positive Tumors.

scientific article

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

scientific article published on 13 February 2012

Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer

scientific article published on 22 April 2014

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

scientific article

Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular features

scientific article

Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.

scientific article published on 18 November 2015

Confirmation of linkage to and localization of familial colon cancer risk haplotype on chromosome 9q22.

scientific article

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

scientific article

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

scientific article published on 01 July 2019

Correction: Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22.

scientific article published on 6 November 2012

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

scientific article published on March 2012

Costs and outcomes of Lynch syndrome screening in the Australian colorectal cancer population

scientific article published on 17 May 2018

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers

scientific article published on 03 November 2020

Current mismatch repair deficiency tumor testing practices and capabilities: A survey of Australian pathology providers

article

DNA methylation-based biological aging and cancer risk and survival: Pooled analysis of seven prospective studies

scientific article

DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome

article

DUSP5 is methylated in CIMP-high colorectal cancer but is not a major regulator of intestinal cell proliferation and tumorigenesis.

scientific article

Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

scientific article published on September 2013

Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors

scientific article published on 16 February 2018

Determining the familial risk distribution of colorectal cancer: a data mining approach.

scientific article published on 17 December 2015

Determining the frequency of de novo germline mutations in DNA mismatch repair genes

scientific article

Dietary intake of one-carbon metabolism nutrients and DNA methylation in peripheral blood

scientific article published on 01 September 2018

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Do serrated neoplasms of the small intestine represent a distinct entity? Pathological findings and molecular alterations in a series of 13 cases

scientific article published on 6 January 2015

Endometrial cancer risk and survival by tumor MMR status.

scientific article

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

scientific article published on 3 August 2015

Ethnicity and Risk for Colorectal Cancers Showing Somatic BRAF V600E Mutation or CpG Island Methylator Phenotype

article

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

scientific article published on 07 January 2021

Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer

scientific article

Expression of MUC2, MUC5AC, MUC5B, and MUC6 mucins in colorectal cancers and their association with the CpG island methylator phenotype

scientific article published on 28 June 2013

Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis.

scientific article published on 9 February 2006

Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.

scientific article

Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases

scientific article

Family history-based colorectal cancer screening in Australia: A modelling study of the costs, benefits, and harms of different participation scenarios

article

Functional informed genome-wide interaction analysis of body mass index, diabetes and colorectal cancer risk

scientific article published on 24 March 2020

GSK3B polymorphisms alter transcription and splicing in Parkinson's disease

scientific journal article

GWASeq: targeted re-sequencing follow up to GWAS.

scientific article

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

scientific article published on 15 July 2021

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genetic variants in the regulatory T cell related pathway and colorectal cancer prognosis

scientific article published on 02 October 2020

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome

scientific article

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

scientific article published on 28 September 2017

Genome-wide search for gene-gene interactions in colorectal cancer

scientific article

Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer

article

Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome.

scientific article

Germline miRNA DNA variants and the risk of colorectal cancer by subtype.

scientific article published on 16 September 2016

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

scientific article published on 19 February 2016

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

scientific article published on 15 July 2022

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

scientific article published on 03 July 2019

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

scientific article

Hyperplastic polyp of the duodenum: a report of 9 cases with immunohistochemical and molecular findings

scientific article published on 5 July 2011

Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.

scientific article

Identification of Lynch syndrome among patients with colorectal cancer

scientific article published on October 2012

Identification of nine new susceptibility loci for endometrial cancer

scientific article published in Nature Communications

Identification of novel variants in colorectal cancer families by high-throughput exome sequencing

scientific article published on May 2013

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

scientific article

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry

scientific article

Immunophenotypic analysis of ovarian endometrioid adenocarcinoma: correlation with KRAS mutation and the presence of endometriosis.

scientific article

Improving identification of lynch syndrome patients: a comparison of research data with clinical records

scientific article

Intake of dietary fruit, vegetables, and fiber and risk of colorectal cancer according to molecular subtypes: A pooled analysis of 9 studies

scientific article published on 14 August 2020

KRAS mutations in ovarian low-grade endometrioid adenocarcinoma: association with concurrent endometriosis.

scientific article published on 2 February 2012

Lack of association between CYP1A1 polymorphism and Parkinson's disease in a Chinese population

article

Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study.

scientific article published on 31 August 2016

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

scientific article published on 20 July 2020

Lessons from Lynch syndrome: a tumor biology-based approach to familial colorectal cancer.

scientific article

Lifetime alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- but not BRAF+ colorectal cancer

scientific article published on 10 December 2016

Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome).

scientific article

Lynch syndrome and cervical cancer

scientific article

Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucins ⬇️

scientific article published on February 1, 2013

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry

scientific article published on 9 March 2010

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

scientific article published on 23 June 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

scientific article

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

scientific article published on 13 July 2020

Mendelian randomization analysis of C-reactive protein on colorectal cancer risk

scientific article published on 01 June 2019

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry

scientific article

Modeling of successive cancer risks in Lynch syndrome families in the presence of competing risks using copulas

scientific article published on 05 July 2016

Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients

scientific article published on 29 February 2008

Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposis.

scientific article published on March 2013

Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome

scientific article published on 10 April 2016

Mutation deep within an intron of MSH2 causes Lynch syndrome

scientific article

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

scientific article published on 01 February 2019

PIK3CA activating mutation in colorectal carcinoma: associations with molecular features and survival

scientific article

Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics

scientific article

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

scientific article published on 01 July 2019

Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

scientific article published on 30 January 2020

Physical activity and the risk of colorectal cancer in Lynch syndrome

scientific article published on 07 August 2018

Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin

scientific article published on 08 October 2013

Postmenopausal Hormone Therapy and Colorectal Cancer Risk by Molecularly Defined Subtypes and Tumor Location

scientific article published on 19 May 2020

Prediagnostic Physical Activity and Colorectal Cancer Survival: Overall and Stratified by Tumor Characteristics.

scientific article

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

scientific article

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

scientific article

Promoter methylation of ITF2, but not APC, is associated with microsatellite instability in two populations of colorectal cancer patients.

scientific article published on 17 February 2016

Promoter methylation of Wnt antagonistsDKK1andSFRP1is associated with opposing tumor subtypes in two large populations of colorectal cancer patients ⬇️

scientific article published on February 8, 2011

Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients ⬇️

scientific article published on May 17, 2011

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry

scientific article

Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening

scientific article published on February 2016

RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers.

scientific article published on June 2017

Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication

scientific article published on 11 August 2014

Reply to J. Moline et al

scientific article published on 09 June 2014

Risk and prognostic factors for endometrial carcinoma after diagnosis of breast or Lynch-associated cancers-A population-based analysis

scientific article published on 28 November 2018

Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics

scientific article

Risk factors for metachronous colorectal cancer following a primary colorectal cancer: A prospective cohort study.

scientific article

Risk factors for metachronous colorectal cancer or polyp: A systematic review and meta-analysis.

scientific article published on 29 June 2016

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

scientific article published on 9 November 2017

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

scientific article published on 17 January 2014

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

scientific article

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

scientific article published on 19 May 2016

Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families

scientific article published on 30 October 2018

Risks of Lynch syndrome cancers for MSH6 mutation carriers

scientific article

Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome

scientific article published on 5 February 2013

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

scientific article

Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives

scientific article

SNP rs16906252C>T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer.

scientific article published on 7 June 2016

Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia

scientific article published on 19 May 2008

Sequence variation in the proximity of IDE may impact age at onset of both Parkinson disease and Alzheimer disease

scientific article

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Should the grading of colorectal adenocarcinoma include microsatellite instability status?

scientific article published on 17 July 2014

Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

scientific article

Stability of BAT26 in Lynch syndrome colorectal tumours

Stochastic epigenetic mutations are associated with risk of breast cancer, lung cancer and mature B-cell neoplasms

scientific article published on 11 August 2020

Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer

scientific article published on 09 December 2019

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

scientific article published on 23 July 2017

Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

scientific article published on 21 June 2017

Tau haplotypes regulate transcription and are associated with Parkinson's disease.

scientific article published on March 2004

Telomere length varies by DNA extraction method: implications for epidemiologic research

scientific article published on 09 September 2013

The ACE deletion polymorphism is not associated with Parkinson's disease.

scientific article published in January 1999

The Cys282Tyr polymorphism in the HFE gene in Australian Parkinson's disease patients

article

The intestinal epithelial cell differentiation marker intestinal alkaline phosphatase (ALPi) is selectively induced by histone deacetylase inhibitors (HDACi) in colon cancer cells in a Kruppel-like factor 5 (KLF5)-dependent manner

scientific article

The intestinal epithelial cell differentiation marker intestinal alkaline phosphatase (ALPi) is selectively induced by histone deacetylase inhibitors (HDACi) in colon cancer cells in a Kruppel-like factor 5 (KLF5)-dependent manner.

scientific article

The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls

article

The prognostic impact of consensus molecular subtypes (CMS) and its predictive effects for bevacizumab benefit in metastatic colorectal cancer: molecular analysis of the AGITG MAX clinical trial

scientific article published on 01 November 2018

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

scientific article

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

scientific article published on 04 June 2019

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

scientific article published on 6 June 2016

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).

scientific article published on 03 October 2014

Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome

scientific article published on 25 September 2019

Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing

scientific article published on 11 January 2018

Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers.

scientific article published on February 2012

Utility of immunohistochemistry for mismatch repair proteins on colorectal polyps in the familial cancer clinic

scientific article published on 01 November 2018

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

scientific article published on 22 March 2016

Variations in the monoamine oxidase B (MAOB) gene are associated with Parkinson's disease

scientific article published in March 1999

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