Genomes and Genes
Daniel D Buchanan
Affiliation: Queensland Institute of Medical Research
- 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...
- Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?Paul K Lovelock
Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Herston Road, Queensland 4029, Australia
Breast Cancer Res 9:R82. 2007....
- 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...
- 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. ..
- 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...
- 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...
- 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....
- 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...
- 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...
- 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...
- 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. ..
- 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 RegistryBryony A Thompson
Department of Genetics and Population Health, Queensland Institute of Medical Research, Herston, Brisbane, Australia School of Medicine, University of Queensland, Brisbane, Australia
Hum Mutat 34:200-9. 2013..Our findings provide a working multifactorial likelihood model for classification that carefully considers mode of ascertainment for gene testing...
- 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...
- 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....
- 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...
- 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...
- 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 classificationMichael T Parsons
Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
J Med Genet 49:151-7. 2012..It is important to incorporate these features in multifactorial models aimed at predicting MMR mutation status...
- 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...
- 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...
- Hyperplastic polyp of the duodenum: a report of 9 cases with immunohistochemical and molecular findingsChristophe Rosty
Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women s Hospital, Herston QLD 4006, Australia
Hum Pathol 42:1953-9. 2011..However, no patient met the criteria for serrated polyposis. Although probably rare and of uncertain malignant potential, hyperplastic polyp should be considered in the differential diagnosis of benign duodenal polyp...
- A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association studyStephanie L Schmit
USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089, USA, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA, Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia, Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia, Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA, Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, Department of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA, Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109,
Carcinogenesis 35:2512-9. 2014..Genetic variation on chromosome 4q32.2 is significantly associated with risk of colorectal cancer in Ashkenazi Jews and Europeans in this study. ..
- 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...