Affiliation: Queensland Institute of Medical Research
- A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9J Young
Glaxo Conjoint Gastroenterology Laboratory, Royal Brisbane Hospital Foundation Clinical Research Centre, Australia
Hum Mutat 11:450-5. 1998..Alternatively spliced transcripts that delete the mutation were readily amplified from normal colonic mucosa and therefore create a mechanism for the attenuated phenotype seen in this family...
- Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesisJ Young
Conjoint Gastroenterology Laboratory, Royal Brisbane Hospital Foundation Clinical Research Centre, Bancroft Centre, Herston, Australia
Am J Pathol 159:2107-16. 2001....
- Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancerJoanne Young
Conjoint Gastroenterology Laboratory, Queensland Institute of Medical Research, Herston, Australia
Clin Gastroenterol Hepatol 3:254-63. 2005..Here, we discuss their role in the development of other familial colorectal cancers (CRC). We studied non-FAP, non-HNPCC CRC families characterized by tumors that varied in their level of MSI between individual members...
- Mutation searching in colorectal cancer studies: experience with a denaturing high-pressure liquid chromatography system for exon-by-exon scanning of tumour suppressor genesJoanne Young
Conjoint Gastroenterology Laboratory, Royal Brisbane Hospital Foundation Clinical Research Centre, Bancroft Centre, Herston, Queensland, Australia
Pathology 34:529-33. 2002..Here we report our progress using denaturing gradient high-pressure liquid chromatography (DHPLC) in the screening of the mismatch repair genes MLH1 and MSH2 and in screening the APC and HPP1 tumour suppressor genes for mutations...
- Mapping of a candidate colorectal cancer tumor-suppressor gene to a 900-kilobase region on the short arm of chromosome 8James M Flanagan
The Queensland Institute of Medical Research, Royal Brisbane Hospital, Herston, Queensland, Australia
Genes Chromosomes Cancer 40:247-60. 2004..Despite the rarity of somatic mutations, the expression data suggest that KIAA1456 is still a candidate for the putative 8p colorectal cancer tumor-suppressor gene...
- Morphological and molecular heterogeneity within nonmicrosatellite instability-high colorectal cancerVicki L J Whitehall
Conjoint Gastroenterology Laboratory, Clinical Research Centre, Royal Brisbane Hospital Research Foundation, Queensland 4029, Australia
Cancer Res 62:6011-4. 2002..004) and lower frequency of hMLH1 methylation (P < 0.001) in the latter. These data demonstrate that the separation of CRC into two nonoverlapping groups (MSI-H versus MSS/MSI-L) is a misleading oversimplification...
- DNA methylation patterns in adenomas from FAP, multiple adenoma and sporadic colorectal carcinoma patientsCoral V A Wynter
Conjoint Gastroenterology Laboratory, Clinical Research Centre, Queensland Institute of Medical Research, Brisbane, Queensland Australia
Int J Cancer 118:907-15. 2006..Genetic profiling of adenomas supports the concept that adenomas belonging to familial syndromes pursue a different pathway to tumorigenesis than their sporadic counterpar/ts from their earliest formation...
- Silencing of O6-methylguanine DNA methyltransferase in the absence of promoter hypermethylation in hepatocellular carcinomas from Australia and South AfricaNirmitha I Herath
Leukaemia Foundation of Queensland, Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia
Oncol Rep 17:817-22. 2007..This suggests that epigenetic silencing of MGMT and microsatellite instability does not play an important role in this series of HCCs derived from different populations...
- Analysis of the transcription regulator, CNOT7, as a candidate chromosome 8 tumor suppressor gene in colorectal cancerJames Flanagan
The Queensland Institute of Medical Research, Royal Brisbane Hospital, Herston, Queensland, Australia
Int J Cancer 106:505-9. 2003..The rarity of somatic mutations in CNOT7, and its expression in primary colorectal tumors and cell lines, suggests that CNOT7 is not the target tumor suppressor gene in the 8p22-23.1 CRCSR...
- Cadherin/catenin complex appears to be intact in hepatocellular carcinomas from Australia and South AfricaNirmitha I Herath
Conjoint Gastroenterology Laboratory, Clinical Research Center, Royal Brisbane Hospital Research Foundation, Brisbane, Australia
J Gastroenterol Hepatol 19:676-82. 2004..The aim of the present study was to assess the role of E-cadherin and beta-catenin in Australian and South African patients with HCC...
- The case for a genetic predisposition to serrated neoplasia in the colorectum: hypothesis and review of the literatureJoanne Young
Molecular Cancer Epidemiology Laboratory, Queensland Institute of Medical Research, 300 Herston Road, Herston, Queensland 4006, Australia
Cancer Epidemiol Biomarkers Prev 15:1778-84. 2006..The tendency for these lesions to be multiple, associated with smoking, and to show frequent BRAF mutation and CIMP points to a defect that may result from interactions between the environment and a weakly penetrant genetic alteration...
- High prevalence of sessile serrated adenomas with BRAF mutations: a prospective study of patients undergoing colonoscopyKevin J Spring
Conjoint Gastroenterology Laboratory, Queensland Institute of Medical Research, Herston, Brisbane, Australia
Gastroenterology 131:1400-7. 2006..This prospective study examined the prevalence of sessile serrated adenomas and determined the incidence of BRAF and K-ras mutations in different types of polyps...
- Evolution of colorectal cancer: change of pace and change of directionJereny R Jass
Department of Pathology, School of Medicine, University of Queensland, Herston, Australia
J Gastroenterol Hepatol 17:17-26. 2002..Cancers in hereditary non-polyposis colorectal cancer show features of both classical (adenoma and APC mutation) and alternative pathways (rapid evolution, MSI-H and lack of chromosomal instability)...
- Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patientsMichael D Walsh
Familial Cancer Laboratory and Molecular Cancer Epidemiology Laboratory, Queensland Institute of Medical Research, Herston, Australia
Clin Cancer Res 14:1692-700. 2008..The aim of this study was to determine the incidence of Lynch syndrome in a series of young-onset EC, and to identify molecular, clinical, and pathologic features that may alert clinicians to the presence of this disorder...
- Serrated pathway colorectal cancer in the population: genetic considerationJoanne Young
Familial Cancer Laboratory, QIMR 300 Herston Road, Herston Q 4006, Australia
Gut 56:1453-9. 2007
- Varying etiologies lead to different molecular changes in Australian and South African hepatocellular carcinomasNirmitha I Herath
Leukemia Foundation of Queensland, The Queensland Institute of Medical Research, Brisbane 4029, QLD, Australia
Int J Oncol 35:1081-9. 2009..Methylation was more and AI less prevalent in Australian than South African HCCs. These data suggest that there are different mechanisms of malignant transformation in HCCs from Australia and South Africa...
- SnoN expression is differently regulated in microsatellite unstable compared with microsatellite stable colorectal cancersJune A Chia
The Conjoint Gastroenterology Laboratory, Royal Brisbane and Women s Hospital Foundation Clinical Research Centre and the Queensland Institute of Medical Research, Brisbane, 4029, Australia
BMC Cancer 6:252. 2006..SnoN is an important regulator of the transforming growth factor beta (TGFbeta) signalling pathway and has been shown to exhibit both tumour promotion and suppression activity...
- Reciprocal relationship between methylation status and loss of heterozygosity at the p14(ARF) locus in Australian and South African hepatocellular carcinomasNirmitha I Herath
Conjoint Gastroenterology Laboratory, Clinical Research Center, Royal Brisbane Hospital Research Foundation, The Queensland Institute of Medical Research, Queesland, Australia
J Gastroenterol Hepatol 17:301-7. 2002..05). No significant association between p14 and p53 was seen in this study. The reciprocal relationship identified indicates different pathways of tumorigenesis and likely reflects different etiologies of HCC in the two countries...
- Epigenetic stem cell signature in cancerMartin Widschwendter
Department of Gynecological Oncology, Institute for Women s Health, University College London, London WC1E 6DH, UK
Nat Genet 39:157-8. 2007....
- Aberrant methylation of the HPP1 gene in ulcerative colitis-associated colorectal carcinomaFumiaki Sato
Gastroenterology Division, Department of Medicine, University of Maryland School of Medicine and Gastroenterology Service, Baltimore, Maryland 21201, USA
Cancer Res 62:6820-2. 2002..In conclusion, our data suggest that methylation of HPP1 is a relatively common early event in UC-associated carcinogenesis. HPP1 offers potential as a biomarker for the early detection of cancer or dysplasia in UC...
- Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genesLeeanne J Mead
Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia
Clin Cancer Res 13:2865-9. 2007..We wanted to examine which microsatellite markers currently used to detect MSI best predict early-onset colorectal cancer caused by germ-line mutations in MMR genes...
- Emerging concepts in colorectal neoplasiaJeremy R Jass
Department of Molecular and Cellular Pathology, University of Queensland Medical School, Australia
Gastroenterology 123:862-76. 2002..If colorectal cancer is a heterogeneous disease comprising discrete subsets that evolve through different pathways, it is evident that these subsets will need to be studied individually in the future...
- Stability of BAT26 in Lynch syndrome colorectal tumoursLesley Jaskowski
Eur J Hum Genet 15:139-41; author reply 141-2. 2007
- Hypermethylation of HPP1 is associated with hMLH1 hypermethylation in gastric adenocarcinomasDavid M Shibata
Division of Surgical Oncology, Department of Surgery, University of Maryland School of Medicine, Baltimore 21201, USA
Cancer Res 62:5637-40. 2002..Moreover, hMLH1 hypermethylation occurs predominantly in the setting of HPP1 hypermethylation. HPP1 hypermethylation may represent an early event in mismatch repair-deficient gastric tumorigenesis...
- The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsLeigha Senter
Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
Gastroenterology 135:419-28. 2008..Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers...
- Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYHElizabeth Chow
Familial Cancer Clinic, Royal Melbourne Hospital, Melbourne, Victoria, Australia
Gastroenterology 131:30-9. 2006..There is no known germ-line predisposition. We aimed to characterize the clinicopathologic features of 38 patients with HPS and explore the role of germ-line mutations in the base excision repair genes MBD4 and MYH...
- CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancerDaniel J Weisenberger
Department of Surgery, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California 90089 9176, USA
Nat Genet 38:787-93. 2006..Sporadic cases of mismatch repair deficiency occur almost exclusively as a consequence of CIMP-associated methylation of MLH1 . We propose a robust new marker panel to classify CIMP+ tumors...
- The PCNA-associated factor KIAA0101/p15(PAF) binds the potential tumor suppressor product p33ING1bFiona Simpson
Institute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, Queensland 4072, Australia
Exp Cell Res 312:73-85. 2006..This suggests that p15(PAF) forms part of a larger protein complex potentially involved in the regulation of DNA repair, apoptosis and cell cycle progression...
- Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregationSharlene Gill
British Columbia Cancer Agency, Vancouver, British Columbia, Canada
Clin Cancer Res 11:6466-71. 2005..Rarely, there is selective loss of PMS2 expression. We sought to describe the frequency and clinical correlates of selective loss of expression of PMS2 with the MSI-H tumor phenotype...
- Lynch syndrome in women less than 50 years of age with endometrial cancerMichael D Walsh
Obstet Gynecol 112:943. 2008
- Identification of genes uniquely involved in frequent microsatellite instability colon carcinogenesis by expression profiling combined with epigenetic scanningYuriko Mori
Department of Medicine, Division of Gastroenterology, University of Maryland School of Medicine and Greenebaum Cancer Center and Baltimore Veterans Affairs Hospital, Baltimore, Maryland, USA
Cancer Res 64:2434-8. 2004..This methylation screening strategy should identify additional genes inactivated by epigenetic silencing in colorectal and other cancers...
- Colorectal cancer with mutation in BRAF, KRAS, and wild-type with respect to both oncogenes showing different patterns of DNA methylationTakeshi Nagasaka
Department of Gastroenterological Surgery and Surgical Oncology, Okayama University Graduate School of Medicine and Dentistry, Okayama, Japan
J Clin Oncol 22:4584-94. 2004..The aim of this study was to further investigate the link between genetic alterations in the RAS/RAF/ERK pathway and an underlying epigenetic disorder...
- Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family RegistryJenny N Poynter
Department of Preventive Medicine, University of Southern California, 1441 Eastlake Avenue, NOR4411A, Los Angeles, CA 90089 9175, USA
Cancer Res 67:11128-32. 2007..These data suggest that common variants may play important roles in the risk of CRC...
- Serrated neoplasia of the colorectum and cigarette smokingJoanne Young
Gastroenterology 135:323-4; author reply 324. 2008
- Re: Excess of early onset multiple myeloma in endometrial cancer probands and their relatives suggests common susceptibilityAmanda Spurdle
Gynecol Oncol 109:153; author reply 154. 2008
- Instabilotyping reveals unique mutational spectra in microsatellite-unstable gastric cancersYuriko Mori
Department of Medicine, University of Maryland School of Medicine, Baltimore Veterans Affairs Hospital, Baltimore, Maryland 21201, USA
Cancer Res 62:3641-5. 2002..2%), and an endoplasmic reticulum chaperone protein gene SEC63 (37.5%). The mutational spectra for genes with high mutation frequencies were also significantly different between MSI-H gastric and colorectal cancers...
- Regulation of microtubule-dependent recycling at the trans-Golgi network by Rab6A and Rab6A'Joanne Young
Cell Biology and Biophysics Programme, European Molecular Biology Laboratory, D 69117 Heidelberg, Germany
Mol Biol Cell 16:162-77. 2005..Together, this suggests that a recycling pathway operates at the level of the trans-Golgi linking directly to the ER. This pathway would be the preferred route for both toxins and resident Golgi proteins...
- Correspondence re: P. Laiho et al., Low-level microsatellite instability in most colorectal carcinomas. Cancer Res., 62: 1166-1170, 2002Jeremy R Jass
Cancer Res 62:5988-9; author reply 5989-90. 2002
- Association of the SULT1A1 R213H polymorphism with colorectal cancerChung Fai Wong
Department of Physiology and Pharmacology, University of Queensland, Princess Alexandra Hospital, St Lucia, Brisbane, QLD 4102, Australia
Clin Exp Pharmacol Physiol 29:754-8. 2002..4. From this study, we conclude that the SULT1A1 R213H polymorphism is not linked with colorectal cancer in this elderly Australian population...
- The impact of microsatellite instability on the molecular phenotype of colorectal tumorsYuriko Mori
Department of Medicine, Division of Gastroenterology, University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, MD 21201, USA
Cancer Res 63:4577-82. 2003..Thus, both components 3 and 10 reflected different aspects of MSI and helped to establish principal components analysis as a useful tool to identify and characterize distinct biological features of human malignancy...
- Hyperplastic polyposis in the New Zealand population: a condition associated with increased colorectal cancer risk and European ancestryAndrew Yeoman
Department of Gastroenterology and Hepatology, Middlemore Hospital, Otahuhu, Auckland, New Zealand
N Z Med J 120:U2827. 2007..HPS is associated with an increased risk of colorectal cancer (CRC). In this report, we review the presentation and management of a series of individuals with HPS...