List of works - James G. Dowty

A PALB2 mutation associated with high risk of breast cancer

scientific article

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

scientific article published on 22 February 2013

Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes

scientific article

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

scientific article

Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry

scientific article published on 16 December 2015

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

article

Cancer risk in 680,000 people exposed to computed tomography scans in childhood or adolescence: data linkage study of 11 million Australians

scientific article

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

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

scientific article published on 6 June 2016

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

scientific article

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

scientific article published on 16 August 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

Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?

scientific article published on 27 February 2020

Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1.

scientific article

Genome-Wide Measures of Peripheral Blood Dna Methylation and Prostate Cancer Risk in a Prospective Nested Case-Control Study

scientific article published on 24 January 2017

Genome-wide DNA methylation assessment of ‘BRCA1-like’ early-onset breast cancer: Data from the Australian Breast Cancer Family Registry

article

Heritable DNA methylation marks associated with susceptibility to breast cancer

scientific article published on 28 February 2018

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

scientific article published on 01 June 2010

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

scientific article published on 8 October 2016

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

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

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

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

scientific article

Penetrance analysis of the PALB2 c.1592delT founder mutation

scientific article

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

scientific article

Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models

scientific article

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

scientific article

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

scientific article published on 28 February 2013

Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre

scientific article published on 13 August 2013

Publication policy or publication bias?

scientific article published in June 2005

Rare variants in the ATM gene and risk of breast cancer

scientific article published on 25 July 2011

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

Risks of Lynch syndrome cancers for MSH6 mutation carriers

scientific article

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

scientific article

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

scientific article published on 22 December 2014

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

scientific article published on 18 July 2020

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

article

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

scientific article

The time-evolution of DCIS size distributions with applications to breast cancer growth and progression

scientific article published on 19 July 2013

Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers

scientific article published on 2 May 2008

Tumour morphology predicts PALB2 germline mutation status

scientific article published on 20 June 2013

Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model

scientific article

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

scientific article published on February 2012

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

article

List of works by James G. Dowty

A PALB2 mutation associated with high risk of breast cancer

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

Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes

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

Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry

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

Cancer risk in 680,000 people exposed to computed tomography scans in childhood or adolescence: data linkage study of 11 million Australians

Cancer risks for MLH1 and MSH2 mutation carriers

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

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

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

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

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

Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?

Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1.

Genome-Wide Measures of Peripheral Blood Dna Methylation and Prostate Cancer Risk in a Prospective Nested Case-Control Study

Genome-wide DNA methylation assessment of ‘BRCA1-like’ early-onset breast cancer: Data from the Australian Breast Cancer Family Registry

Heritable DNA methylation marks associated with susceptibility to breast cancer

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

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

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

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

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

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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

Penetrance analysis of the PALB2 c.1592delT founder mutation

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

Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre

Publication policy or publication bias?

Rare variants in the ATM gene and risk of breast cancer

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

Risks of Lynch syndrome cancers for MSH6 mutation carriers

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

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

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

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

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

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

The time-evolution of DCIS size distributions with applications to breast cancer growth and progression

Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers

Tumour morphology predicts PALB2 germline mutation status

Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model

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

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