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...
- 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...
- 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....
- 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...
- 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...
- 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...
- 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...
- 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...