List of works by Mark Jenkins

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.

scientific article published in May 2018

A general framework for functionally informed set-based analysis: Application to a large-scale colorectal cancer study

scientific article published on 24 August 2020

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.

scientific article

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

scientific article

A meta-analysis of effectiveness of influenza vaccine in persons aged 65 years and over living in the community.

scientific article

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

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

scientific article published on 13 November 2011

A protein-truncating mutation inCYP17A1 in three sisters with early-onset breast cancer

A range of simple summary genome-wide statistics for detecting genetic linkage using high density marker data

scientific article

A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.

scientific article published in July 2003

A variant in FTO shows association with melanoma risk not due to BMI

scientific article

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

Abstract 4831: Additive and multiplicative gene-environment interactions for colorectal cancer risk

article

Abstract LB-282: Transethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A

article

Accuracy of Colorectal Polyp Self-Reports: Findings from the Colon Cancer Family Registry

scientific article published on 28 August 2007

Accuracy of self-reported nevus and pigmentation phenotype compared with clinical assessment in a population-based study of young Australian adults

scientific article

Adherence to asthma management guidelines by middle-aged adults with current asthma

article

AfterhMSH2 andhMLH1?what next? Analysis of three-generational, population-based, early-onset colorectal cancer families

article

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

scientific article

Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry

scientific article

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 Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies ⬇️

scholarly article by Anne E. Cust published in June 2018

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

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

scientific article published on 03 July 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 monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis

scientific article published on March 2011

Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants

scientific article

Associations between smoking, alcohol consumption, and colorectal cancer, overall and by tumor microsatellite instability status

scientific article published on 15 September 2009

Associations of 5HTTLPR polymorphism with major depressive disorder and alcohol dependence: A systematic review and meta-analysis

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

Associations of pigmentary and naevus phenotype with melanoma risk in two populations with comparable ancestry but contrasting levels of ambient sun exposure

scientific article published on 07 June 2019

Asthma, allergy and atopy in southern Chinese school students.

scientific article published on April 1994

BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50.

scientific article

BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer

scientific article published on January 1999

Benefits, Harms, and Cost-Effectiveness of Potential Age Extensions to the National Bowel Cancer Screening Program in Australia

scientific article published on 06 September 2018

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers

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

Breast Cancer Risk Associations with Digital Mammographic Density by Pixel Brightness Threshold and Mammographic System.

scientific article

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study

scientific article published in July 2009

Breast-feeding and atopic disease: a cohort study from childhood to middle age.

scientific article published on 31 August 2007

CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study

scientific article

CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk

scientific article published on 14 January 2016

Cancer Risks For Mismatch Repair Gene Mutation Carriers: A Population-Based Early Onset Case-Family Study

article

Cancer Risks for PMS2-Associated Lynch Syndrome

scientific article published on 30 August 2018

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

scientific article published on 28 July 2017

Cancer risk management practices of noncarriers within BRCA1/2 mutation positive families in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer.

scientific article published on 26 November 2007

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

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

Cancer screening in Australia: future directions in melanoma, Lynch syndrome, and liver, lung and prostate cancers

scientific article published on 31 July 2019

Case-control study of overweight, obesity, and colorectal cancer risk, overall and by tumor microsatellite instability status

scientific article

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

scientific article

Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling

scientific article published on December 2006

Childhood adiposity predicts adult-onset current asthma in females: a 25-yr prospective study

scientific article published on 24 January 2007

Childhood allergic rhinitis predicts asthma incidence and persistence to middle age: A longitudinal study

article

Childhood body mass index and adult mammographic density measures that predict breast cancer risk

scientific article published on 23 February 2016

Childhood cancers in families with and without Lynch syndrome

scientific article

Childhood immunization and atopic disease into middle-age--a prospective cohort study

scientific article published on 7 December 2009

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

scientific article published on 10 June 2016

Choosing not to undergo predictive genetic testing for hereditary colorectal cancer syndromes: expanding our understanding of decliners and declining

scientific article published on 14 February 2017

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

scientific article published on May 2009

Cohort Profile: The Tasmanian Longitudinal Health STUDY (TAHS).

scientific article published on 6 June 2016

Colon and rectal cancer survival by tumor location and microsatellite instability: the Colon Cancer Family Registry.

scientific article published on August 2013

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 incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

scientific article published on 10 October 2017

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

scientific article

Colorectal cancer screening is cost-effective in the elderly who have had less intense prior screening, high baseline risk of colorectal cancer and less comorbidities

scientific article published on 23 August 2016

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

scientific article

Common variants in the obesity-associated genes FTO and MC4R are not associated with risk of colorectal cancer.

scientific article published on 21 July 2016

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

scientific article

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

scientific article published on 18 November 2015

Comparison of the efficiency of colorectal cancer screening programs based on age and genetic risk for reduction of colorectal cancer mortality.

scientific article published on 10 May 2017

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

Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer

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: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 20 July 2020

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

scientific article published on 6 November 2012

Corrigendum: genome-wide association study of colorectal cancer identifies six new susceptibility loci

scientific article published on 26 October 2015

Cost-effectiveness of family history-based colorectal cancer screening in Australia.

scientific article

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

scientific article published on 17 May 2018

Criteria and prediction models for mismatch repair gene mutations: a review.

scientific article published on 16 August 2013

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

scientific article

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

scientific article published on 05 April 2012

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

article

DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

scientific article published on 04 July 2019

Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

scientific article published on 30 July 2013

Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes

scientific article published on 25 January 2011

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 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

Development and external validation study of a melanoma risk prediction model incorporating clinically assessed naevi and solar lentigines

scientific article published on 04 August 2019

Diagnostics for Pleiotropy in Mendelian Randomization Studies: Global and Individual Tests for Direct Effects

scientific article published on 01 December 2018

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Discussions about predictive genetic testing for Lynch syndrome: the role of health professionals and families in decisions to decline.

scientific article published on 20 February 2018

Does eczema in infancy cause hay fever, asthma, or both in childhood? Insights from a novel regression model of sibling data

scientific article

Does risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair gene depend on family history of endometrial cancer or colorectal cancer?

scientific article

Early-life sun exposure and risk of melanoma before age 40 years

article

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

scientific article published on 21 November 2017

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

scientific article published on 3 August 2015

Estimates of familial risks from family data are biased when ascertainment of families is not independent of family history.

scientific article published on 21 October 2010

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

article

Evaluation of the benefits, harms and cost-effectiveness of potential alternatives to iFOBT testing for colorectal cancer screening in Australia

scientific article published on 14 February 2018

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

scientific article

Exploratory genome-wide interaction analysis of non-steroidal anti-inflammatory drugs and predicted gene expression on colorectal cancer risk

scientific article published on 10 July 2020

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

Eye injuries in rural Victoria, Australia.

scientific article published on September 2009

Factors influencing asthma remission: a longitudinal study from childhood to middle age.

scientific article published on 30 March 2011

Familial Risks, Early-Onset Breast Cancer, and BRCA1 and BRCA2 Germline Mutations

scientific article published on 01 March 2003

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

scientific article

Family history of colorectal cancer is not associated with colorectal cancer survival regardless of microsatellite instability status

scientific article

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

article

Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome

scientific article

Fertility after young-onset colorectal cancer: a study of subjects with Lynch syndrome.

scientific article published on 6 March 2015

Fertility and apparent genetic anticipation in Lynch syndrome

scientific article

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

scientific article

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes

scientific article

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases

scientific article

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

scientific article published on 24 March 2020

GWASeq: targeted re-sequencing follow up to GWAS.

scientific article

Gene-environment interaction involving recently identified colorectal cancer susceptibility Loci

scientific article

Genes involved with folate uptake and distribution and their association with colorectal cancer risk

scientific article

Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer

scientific article published on 27 August 2013

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

article

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

scientific article

Genetic variation in UGT genes modify the associations of NSAIDs with risk of colorectal cancer: colon cancer family registry

scientific article

Genetic variation in the vitamin D receptor (VDR) and the vitamin D-binding protein (GC) and risk for colorectal cancer: results from the Colon Cancer Family Registry

scientific article

Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry

scientific article

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

scientific article published on 27 May 2005

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

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 association study identifies a new melanoma susceptibility locus at 1q21.3

scientific journal article

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

scientific article published on 07 July 2015

Genome-wide diet-gene interaction analyses for risk of colorectal cancer

scientific article

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

scientific article

Genotype-environment interactions in microsatellite stable/microsatellite instability-low colorectal cancer: results from a genome-wide association study

scientific article

Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer

article

Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study

scientific article published on 27 December 2008

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

Global trends in colorectal cancer mortality: projections to the year 2035 ⬇️

scientific article published on 08 January 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

Hospital-admitted eye injury in Victoria, Australia

scientific article published on 25 March 2010

How does genetic risk information for Lynch syndrome translate to risk management behaviours?

scientific article published on 05 January 2017

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

scientific article published on 22 December 2012

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

scientific article

Identification of Lynch syndrome among patients with colorectal cancer

scientific article published on October 2012

Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk

scientific article published on 07 March 2016

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

scientific article

Identification of a melanoma susceptibility locus and somatic mutation in TET2.

scientific article

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

Image-guided sampling reveals increased stroma and lower glandular complexity in mammographically dense breast tissue

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

In Reply:

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

scientific article published on 3 June 2016

Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia

scientific article published on 12 July 2017

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

Integrating personalised genomics into risk stratification models of population screening for colorectal cancer

scientific article published on 23 October 2016

Interval breast cancer risk associations with breast density, family history and breast tissue aging

scientific article published on 14 October 2019

Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome

scientific article

Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?

Is childhood immunisation associated with atopic disease from age 7 to 32 years?

scientific article

Is the reported modifying effect of 8q23.3 and 11q23.1 on colorectal cancer risk for MLH1 mutation carriers valid?

scientific article published on 18 April 2013

Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation

scientific article published on 01 September 2005

Kaplan–Meier failure estimate for metachronous colorectal cancer risk is clinically relevant

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

Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: identification of a large complex de novo hMLH1 alteration

scientific article published on 01 September 2006

Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer

scientific article published on 06 December 2018

Letter in response to “Identifying Lynch syndrome” by de la Chapelle et al

scientific article published on 01 June 2010

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

Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years.

scientific article

Lynch syndrome and cervical cancer

scientific article

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

scientific article published on 9 March 2010

MC1R genotype as a predictor of early-onset melanoma, compared with self-reported and physician-measured traditional risk factors: an Australian case-control-family study

scientific article

MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study

scientific article

Mammographic density defined by higher than conventional brightness threshold better predicts breast cancer risk for full-field digital mammograms.

scientific article

Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk

scientific article published on 8 October 2016

Measures of familial aggregation depend on definition of family history: meta-analysis for colorectal cancer

scientific article

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK

article

Mendelian Randomization Study of Body Mass Index and Colorectal Cancer Risk

scientific article published on 14 May 2015

Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk

scientific article published on 12 February 2020

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 randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

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

scientific article published on 01 June 2019

Mendelian randomization study of height and risk of colorectal cancer

scientific article published on April 2015

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

scientific article

Meta-analysis of new genome-wide association studies of colorectal cancer risk

scientific article published on 15 July 2011

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery

scientific article

Microsatellite Instability Markers for Identifying Early-Onset Colorectal Cancers Caused by Germ-Line Mutations in DNA Mismatch Repair Genes

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

Modeling the probability that Ashkenazi Jewish women carry a founder mutation in BRCA1 or BRCA2.

scientific article published on December 1999

Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening

scientific article

Molecular screening of all colorectal tumors diagnosed before age 50 years followed by genetic testing efficiently identifies Lynch syndrome cases

article

Morphological predictors of BRCA1 germline mutations in young women with breast cancer.

scientific article

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

scientific article

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

No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk

scientific article

No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years

scientific article

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

Parent of origin effects on age at colorectal cancer diagnosis

scientific article

Parity and decreased use of oral contraceptives as predictors of asthma in young women.

scientific article published in May 2006

Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study

scientific article

Perceived versus predicted risks of colorectal cancer and self-reported colonoscopies by members of mismatch repair gene mutation-carrying families who have declined genetic testing

scientific article published on 09 June 2013

Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

scientific article published on 8 March 2012

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

scientific article

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

Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia

scientific article published on 09 August 2013

Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E.

scientific article

Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry

scientific article published in November 2006

Population-based, case-control-family design to investigate genetic and environmental influences on melanoma risk: Australian Melanoma Family Study

scientific article

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

Predicting interval and screen-detected breast cancers from mammographic density defined by different brightness thresholds

Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor

scientific article published on 30 August 2013

Predictors of the use of complementary and alternative medicine (CAM) by women at high risk for breast cancer

scientific article published on 7 November 2008

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

scientific article

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

scientific article

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

scientific article

Prognosis of Premenopausal Breast Cancer and Childbirth Prior to Diagnosis

article

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

Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer

scientific article published on May 2007

Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer

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

scientific article published on 11 August 2014

Reasons for ongoing participation in a longitudinal cohort study

article by Christopher A Barton et al published 31 July 2012 in Australian and New Zealand Journal of Public Health

Recurrent and founder mutations in the PMS2 gene.

scientific article

Red meat intake, NAT2, and risk of colorectal cancer: a pooled analysis of 11 studies

scientific article

Regressive logistic modeling of familial aggregation for asthma in 7,394 population-based nuclear families

scientific article published on January 1997

Relevance of the hygiene hypothesis to early vs. late onset allergic rhinitis.

scientific article published in March 2009

Response

scientific article published on 29 October 2013

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 breast cancer in Lynch syndrome: a systematic review.

scientific article published on 19 March 2013

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 colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study

scientific article published in February 2006

Risk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinoma

scientific article

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

scientific article published on 19 May 2016

Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis.

scientific article published on 14 January 2014

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

scientific article published on 01 December 2020

Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study

scientific article published in September 2006

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 participation predictors for people at familial risk of colorectal cancer: a systematic review

scientific article published on May 2013

Screening practices of Australian men and women categorized as "at or slightly above average risk" of colorectal cancer

scientific article

Screening practices of unaffected people at familial risk of colorectal cancer

scientific article published on 26 October 2011

Serrated pathway colorectal cancer in the population: genetic consideration

scientific article

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis.

scientific article published on 22 December 2014

Should the grading of colorectal adenocarcinoma include microsatellite instability status?

scientific article published on 17 July 2014

Smoking and colorectal cancer in Lynch syndrome: results from the Colon Cancer Family Registry and the University of Texas M.D. Anderson Cancer Center

scientific article

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

Sunbed use during adolescence and early adulthood is associated with increased risk of early-onset melanoma

scientific article

Sunscreen Use and Melanoma Risk Among Young Australian Adults

scientific article published on 01 September 2018

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

scientific article published on 09 September 2013

Testing for Gene-Environment Interactions Using a Prospective Family Cohort Design: Body Mass Index in Early and Later Adulthood and Risk of Breast Cancer.

scientific article published on March 2017

The CRISP colorectal cancer risk prediction tool: an exploratory study using simulated consultations in Australian primary care.

scientific article

The Impact of a Comprehensive Risk Prediction Model for Colorectal Cancer on a Population Screening Program

scientific article published on 18 July 2020

The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history

scientific article published on 19 August 2010

The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women

article

The association of telomere length with colorectal cancer differs by the age of cancer onset

scientific article published on 06 March 2014

The association of tumor microsatellite instability phenotype with family history of colorectal cancer

scientific article published on 03 March 2009

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

scientific article

The melanoma genomics managing your risk study: A protocol for a randomized controlled trial evaluating the impact of personal genomic risk information on skin cancer prevention behaviors

scientific article published on 23 May 2018

The use of a risk assessment and decision support tool (CRISP) compared with usual care in general practice to increase risk-stratified colorectal cancer screening: study protocol for a randomised controlled trial

scientific article published on 25 July 2018

Tracing 8,600 participants 36 years after recruitment at age seven for the Tasmanian Asthma Study

scientific article published on April 2006

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.

scientific article

Trends in Colon and Rectal Cancer Incidence in Australia from 1982 to 2014: Analysis of Data on Over 375,000 Cases

article

Trends in colorectal cancer mortality in Europe: retrospective analysis of the WHO mortality database

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

Two ATM variants and breast cancer risk.

scientific article published in June 2005

Use of Molecular Tumor Characteristics to Prioritize Mismatch Repair Gene Testing in Early-Onset Colorectal Cancer

article

Use of folic acid-containing supplements after a diagnosis of colorectal cancer in the Colon Cancer Family Registry ⬇️

scientific article

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

scientific article published on February 2012

Utility of the methylated SEPT9 test for the early detection of colorectal cancer: a systematic review and meta-analysis of diagnostic test accuracy

scientific article published on 18 February 2020

Validation of Questionnaire and Bronchial Hyperresponsiveness against Respiratory Physician Assessment in the Diagnosis of Asthma

article

Validation study of thelambdamodel for predicting theBRCA1orBRCA2mutation carrier status of North American Ashkenazi Jewish women

article

Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family Registry

scientific article published in December 2007

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

Who remembers whether they had asthma as children?

scientific article published on December 2006

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