List of works - Joanne P Young

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

scientific article published on 27 September 2012

Analysis of the association between CIMP and BRAF in colorectal cancer by DNA methylation profiling

scientific article

Appendiceal Neoplasm Incidence and Mortality Rates are on the Rise in Australia

scientific article published on 06 October 2020

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

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

scientific article

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

Bone morphogenic protein 3 inactivation is an early and frequent event in colorectal cancer development.

scientific article

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

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 in hyperplastic polyposis syndrome: In search of the polyp of origin.

scientific article published on 10 March 2011

Colorectal cancer with mutation in BRAF, KRAS, and wild-type with respect to both oncogenes showing different patterns of DNA methylation

scientific article published on 01 November 2004

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

scientific article

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

Correspondence re: P. Laiho et al., Low-level microsatellite instability in most colorectal carcinomas. Cancer Res., 62: 1166-1170, 2002

scientific article published on 01 October 2002

DNA methylation patterns in adenomas from FAP, multiple adenoma and sporadic colorectal carcinoma patients.

scientific article

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

scientific article

Efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability.

scientific article published in June 2009

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

article

Evolution of colorectal cancer: change of pace and change of direction.

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

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

scientific article

Fas ligand and tumour counter-attack in colorectal cancer stratified according to microsatellite instability status

scientific article published on 01 September 2003

Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis

scientific article published on December 2001

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 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

Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study

scientific article

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

scientific article

High prevalence of sessile serrated adenomas with BRAF mutations: a prospective study of patients undergoing colonoscopy.

scientific article published on 18 August 2006

Human intestinal spirochetosis and its relationship to sessile serrated adenomas in an Australian population

scientific article published on 08 September 2015

Hypermethylation of HPP1 is associated with hMLH1 hypermethylation in gastric adenocarcinomas

scientific article (publication date: 15 October 2002)

Hyperplastic Polyposis and the smoking paradox in females.

scientific article published on 10 March 2011

Identification of genes uniquely involved in frequent microsatellite instability colon carcinogenesis by expression profiling combined with epigenetic scanning.

scientific article

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors

scientific article published on 01 February 2002

Instabilotyping reveals unique mutational spectra in microsatellite-unstable gastric cancers.

scientific article published in July 2002

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

scientific article

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

scientific article published on 01 September 2005

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

scientific article published on 2 February 2012

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

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 in women less than 50 years of age with endometrial cancer

scientific article published on 01 October 2008

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

scientific article published on February 1, 2013

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

scientific article

Metastatic Colorectal Cancer in Young Adults: A Study From the South Australian Population-Based Registry.

scientific article published on 30 July 2015

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

article

Molecular change that distinguishes traditional serrated adenomas from sessile serrated adenomas

scientific article published on 01 October 2011

Morphological and molecular heterogeneity within nonmicrosatellite instability-high colorectal cancer

scientific article published on 01 November 2002

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 searching in colorectal cancer studies: experience with a denaturing high-pressure liquid chromatography system for exon-by-exon scanning of tumour suppressor genes

article

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

scientific article

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

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

Reciprocal relationship between methylation status and loss of heterozygosity at the p14(ARF) locus in Australian and South African hepatocellular carcinomas

scientific article published on 01 March 2002

Recurrent and founder mutations in the PMS2 gene.

scientific article

Reduced aquaporin-1 transcript expression in colorectal carcinoma is associated with promoter hypermethylation

scientific article published on 20 February 2019

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

scientific article published on 10 November 2011

Reply to J. Moline et al

scientific article published on 09 June 2014

Report of Endometrial Cancer in Australian BRCA1 and BRCA2 mutation-positive Families.

scientific article published in April 2011

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

scientific article

Risk factors: Hyperplastic polyposis syndrome and risk of colorectal cancer

scientific article published on 01 November 2010

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 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

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 inherited defects of MYH in the development of sporadic colorectal cancer

scientific article (publication date: May 2004)

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

scientific article

Serrated neoplasia of the colorectum and cigarette smoking.

scientific article published on 11 June 2008

Serrated pathway colorectal cancer in the population: genetic consideration

scientific article

Silencing of O6-methylguanine DNA methyltransferase in the absence of promoter hypermethylation in hepatocellular carcinomas from Australia and South Africa.

scientific article published in April 2007

SnoN expression is differently regulated in microsatellite unstable compared with microsatellite stable colorectal cancers.

scientific article published on 24 October 2006

The MUC13 cell surface mucin is highly expressed by human colorectal carcinomas

scientific article published on 13 March 2007

The PCNA-associated factor KIAA0101/p15(PAF) binds the potential tumor suppressor product p33ING1b.

scientific article

The case for a genetic predisposition to serrated neoplasia in the colorectum: hypothesis and review of the literature.

scientific article published on October 2006

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

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

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

article

List of works by Joanne P Young

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

Analysis of the association between CIMP and BRAF in colorectal cancer by DNA methylation profiling

Appendiceal Neoplasm Incidence and Mortality Rates are on the Rise in Australia

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

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

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

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

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

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

Bone morphogenic protein 3 inactivation is an early and frequent event in colorectal cancer development.

Cancer Risks for Relatives of Patients With Serrated Polyposis ⬇️

Cancer risks for MLH1 and MSH2 mutation carriers

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

Colorectal cancer in hyperplastic polyposis syndrome: In search of the polyp of origin.

Colorectal cancer with mutation in BRAF, KRAS, and wild-type with respect to both oncogenes showing different patterns of DNA methylation

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

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.

Correspondence re: P. Laiho et al., Low-level microsatellite instability in most colorectal carcinomas. Cancer Res., 62: 1166-1170, 2002

DNA methylation patterns in adenomas from FAP, multiple adenoma and sporadic colorectal carcinoma patients.

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

Efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability.

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

Evolution of colorectal cancer: change of pace and change of direction.

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

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

Fas ligand and tumour counter-attack in colorectal cancer stratified according to microsatellite instability status

Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis

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

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

Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study

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

High prevalence of sessile serrated adenomas with BRAF mutations: a prospective study of patients undergoing colonoscopy.

Human intestinal spirochetosis and its relationship to sessile serrated adenomas in an Australian population

Hypermethylation of HPP1 is associated with hMLH1 hypermethylation in gastric adenocarcinomas

Hyperplastic Polyposis and the smoking paradox in females.

Identification of genes uniquely involved in frequent microsatellite instability colon carcinogenesis by expression profiling combined with epigenetic scanning.

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors

Instabilotyping reveals unique mutational spectra in microsatellite-unstable gastric cancers.

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

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

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

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

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

Lynch syndrome and cervical cancer

Lynch syndrome in women less than 50 years of age with endometrial cancer

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

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

Metastatic Colorectal Cancer in Young Adults: A Study From the South Australian Population-Based Registry.

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

Molecular change that distinguishes traditional serrated adenomas from sessile serrated adenomas

Morphological and molecular heterogeneity within nonmicrosatellite instability-high colorectal cancer

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

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

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

Mutation searching in colorectal cancer studies: experience with a denaturing high-pressure liquid chromatography system for exon-by-exon scanning of tumour suppressor genes

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

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

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

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

Reciprocal relationship between methylation status and loss of heterozygosity at the p14(ARF) locus in Australian and South African hepatocellular carcinomas

Recurrent and founder mutations in the PMS2 gene.

Reduced aquaporin-1 transcript expression in colorectal carcinoma is associated with promoter hypermethylation

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

Reply to J. Moline et al

Report of Endometrial Cancer in Australian BRCA1 and BRCA2 mutation-positive Families.

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

Risk factors: Hyperplastic polyposis syndrome and risk of colorectal cancer

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

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

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

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

Risks of Lynch syndrome cancers for MSH6 mutation carriers

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

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

Role of inherited defects of MYH in the development of sporadic colorectal cancer

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

Serrated neoplasia of the colorectum and cigarette smoking.

Serrated pathway colorectal cancer in the population: genetic consideration

Silencing of O6-methylguanine DNA methyltransferase in the absence of promoter hypermethylation in hepatocellular carcinomas from Australia and South Africa.