Genomes and Genes
Michael D Walsh
Affiliation: Queensland Institute of Medical Research
- Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysisMichael D Walsh
Familial Cancer Laboratory, QIMR, Herston, QLD 4006, Australia
Fam Cancer 8:313-23. 2009....
- Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucinsMichael D Walsh
Cancer and Population Studies Group, Queensland Institute of Medical Research, Herston, QLD 4006, Australia
Mod Pathol 26:944-54. 2013..In addition, ectopic CDX2 expression is positively associated with de novo MUC2 expression. ..
- 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...
- Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registryMichael D Walsh
Familial Cancer Laboratory, I Floor, Bancroft Centre, Queensland Institute of Medical Research, Herston Road, Herston, Queensland 4006, Australia
Clin Cancer Res 16:2214-24. 2010..The recognition of breast cancer as a spectrum tumor in Lynch syndrome remains controversial. The aim of this study was to explore features of breast cancers arising in Lynch syndrome families...
- Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular featuresChristophe Rosty
Cancer and Population Studies Group, Queensland Institute of Medical Research, Herston, Queensland, Australia
Mod Pathol 26:825-34. 2013..In summary, KRAS-mutated carcinomas frequently develop in contiguity with a residual polyp and show molecular features distinct from other colorectal carcinomas, in particular from tumors with neither BRAF nor KRAS mutation...
- Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinicsChristophe Rosty
Pathology Queensland, Royal Brisbane and Women s Hospital, Herston, QLD 4006, Australia
Am J Surg Pathol 36:876-82. 2012..003). Patients with SPS referred to genetics clinics had a pancolonic disease with a high polyp burden and a high rate of BRAF mutation. The occurrence of CRC was associated with the presence of conventional adenoma...
- PIK3CA activating mutation in colorectal carcinoma: associations with molecular features and survivalChristophe Rosty
Cancer and Population Studies Group, Queensland Institute of Medical Research, Herston, Australia
PLoS ONE 8:e65479. 2013..PIK3CA mutation also contributes to significantly decreased survival for patients with wild-type BRAF tumors...
- 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 registryMichael D Walsh
Familial Cancer Laboratory, QIMR, Herston, QLD, Australia
Mod Pathol 25:722-30. 2012..The overwhelming majority of conventional adenomas from mutation carriers show loss of mismatch repair protein expression concordant with the underlying germline mutation...
- Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposisChristophe Rosty
Cancer and Population Studies Group, Queensland Institute of Medical Research, Bancroft Centre, Herston, QLD, Australia
Am J Surg Pathol 37:434-42. 2013..The high proportion of multiple CRCs suggests that individuals with SP would benefit from frequent colonoscopic surveillance and from a consideration of a more extensive colectomy at the time of CRC diagnosis...
- Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinicsDaniel D Buchanan
Familial Cancer Laboratory, QIMR, Herston, Queensland, Australia
PLoS ONE 5:e11636. 2010..The aim of this work therefore was to investigate the association between smoking and the risk of CRC in high-risk genetics clinic patients presenting with multiple serrated polyps...
- HLA-DR expression is associated with better prognosis in sporadic Australian clinicopathological Stage C colorectal cancersMichael D Walsh
Queensland Institute of Medical Research, Herston, Australia
Int J Cancer 125:1231-7. 2009..0005) and peritumoral lymphocytes (p = 0.003), but not other clinicopathological features or MSI status. HLA-DR-positive CRCs were strongly associated with better patient outcome (p < 0.0001)...
- Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer casesDaniel D Buchanan
Cancer and Population Studies Group, Queensland Institute of Medical Research, 300 Herston Rd, Herston QLD 4006, Australia
Cancer Epidemiol Biomarkers Prev 22:917-26. 2013..V600E mutation are at an increased risk of CRC and extracolonic cancers (ECC). In this study, we estimated the association between a family history of either CRC or ECC and risk of CRC with a BRAF p.V600E mutation...
- Mutation deep within an intron of MSH2 causes Lynch syndromeMark Clendenning
Familial Cancer Laboratory, Queensland Institute of Medical Research, 300 Herston Road, Herston, QLD, Australia
Fam Cancer 10:297-301. 2011....
- 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...
- Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsSven Arnold
Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia
Hum Mutat 30:757-70. 2009..Classification of mismatch repair gene variants is assisted by a comprehensive approach that includes in vitro, tumor pathology, clinical, and evolutionary conservation data...
- Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)Aedan Roberts
Familial Cancer Laboratory, Queensland Institute of Medical Research, Herston, QLD 4006, Australia
Fam Cancer 10:245-54. 2011..36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9...
- Expression of MUC2, MUC5AC, MUC5B, and MUC6 mucins in colorectal cancers and their association with the CpG island methylator phenotypeMichael D Walsh
1 Cancer and Population Studies Group, Queensland Institute of Medical Research, Herston, QLD, Australia 2 Department of Histopathology, Sullivan Nicolaides Pathology, Taringa, QLD, Australia
Mod Pathol 26:1642-56. 2013..Our results suggest that, in methylator-positive tumors, mucin genes on chromosome 11p15.5 region undergo increased expression via mechanisms other than direct regulation by CDX2. ..
- Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic studyDaniel D Buchanan
Familial Cancer Laboratory, QIMR, Herston, Brisbane Q 4006, Australia
Int J Colorectal Dis 25:703-12. 2010..Hyperplastic polyposis is a colonic polyposis condition of unknown aetiology. The purpose of this study was to examine the spectrum of phenotypic variation in patients with multiple serrated polyps as a basis for gene discovery...
- Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?Mark Clendenning
Cancer and Population Studies, Queensland Institute of Medical Research, 300 Herston Road, Herston, QLD, 4006, Australia
Fam Cancer 12:563-6. 2013..No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3' deletions in PMS2 are not a frequent occurrence in such families...
- Lessons from Lynch syndrome: a tumor biology-based approach to familial colorectal cancerDaniel D Buchanan
Familial Cancer Laboratory, QIMR, Herston Q 4006, Australia
Future Oncol 6:539-49. 2010..Finally, rare families exist in which both conditions segregate independently, producing a difficult diagnostic picture...
- The MUC13 cell surface mucin is highly expressed by human colorectal carcinomasMichael D Walsh
Molecular Cancer Epidemiology Laboratory, Bancroft Centre, Queensland Institute of Medical Research, Herston, QLD, Australia
Hum Pathol 38:883-92. 2007..In summary, MUC13 was expressed abundantly by all colorectal cancers, with the highest expression in more poorly differentiated tumors...
- 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...
- Improving identification of lynch syndrome patients: a comparison of research data with clinical recordsYen Y Tan
School of Medicine, The University of Queensland, 288 Herston Road, Herston, Queensland 4006, Australia
Int J Cancer 132:2876-83. 2013..Hospital records indicate poor recognition of family history. Application of research methods show improved identification and may facilitate appropriate referrals of endometrial cancer patients with possible Lynch syndrome...
- 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...
- 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...
- 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...
- 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...
- 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...
- Immunophenotypic analysis of ovarian endometrioid adenocarcinoma: correlation with KRAS mutation and the presence of endometriosisColin J R Stewart
Department of Pathology, King Edward Memorial Hospital, Perth School of Women s and Infants Health Centre for Applied Statistics, University of Western Australia Department of Research, Sir Charles Gairdner Hospital, Perth, Western Australia Cancer and Population Studies Group, Queensland Institute of Medical Research, Brisbane Department of Histopathology, Sullivan Nicolaides Pathology, Brisbane, Queensland, Australia
Pathology 45:559-66. 2013..The relationship between endometriosis and ovarian endometrioid adenocarcinoma (OEC) is well recognised but it is unclear whether endometriosis positive and negative OECs develop via similar pathogenetic mechanisms...
- 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...