Search Results - "Suthers, Graeme K."
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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 registry
Published in Modern pathology (01-05-2012)“…Debate continues as to the usefulness of assessing adenomas for loss of mismatch repair protein expression to identify individuals with suspected Lynch…”
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Comparing the performance of gene expression assays in breast cancer
Published in International journal of cancer (15-08-2019)Get full text
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Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies
Published in Blood (25-02-2016)“…Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset…”
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Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Published in Nature genetics (01-10-2011)“…We report the discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene. We found the same, previously…”
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5
Rising incidence of early-onset colorectal cancer in Australia over two decades: Report and review
Published in Journal of gastroenterology and hepatology (01-01-2015)“…The average age at diagnosis for colorectal cancer (CRC) in Australia is 69, and the age‐specific incidence rises rapidly after age 50 years. The incidence has…”
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Letter to the editor: reply to Bousman et al
Published in Pharmacogenomics (01-10-2019)“…Letter regarding: Bousman CA, Arandjelovic K, Mancuso SG, Eyre HA, Dunlop BW. Pharmacogenetic tests and depressive symptom remission: a meta-analysis of…”
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Diagnostic performance and costs of contingent screening models for trisomy 21 incorporating non‐invasive prenatal testing
Published in Australian & New Zealand journal of obstetrics & gynaecology (01-08-2017)“…Background Contingent screening for trisomy 21 using non‐invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the…”
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Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer
Published in Familial cancer (01-11-2006)“…Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a pigmented fundus lesion associated with familial adenomatous polyposis (FAP). CHRPE…”
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Cancer Risks for Relatives of Patients With Serrated Polyposis
Published in The American journal of gastroenterology (01-05-2012)“…Serrated polyposis (hyperplastic polyposis) is characterized by multiple polyps with serrated architecture in the colorectum. Although patients with serrated…”
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Lynch Syndrome―Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry
Published in Clinical cancer research (01-04-2010)“…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…”
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Alerting genetic relatives to a risk of serious inherited disease without a patient's consent
Published in Medical journal of Australia (18-04-2011)Get full text
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CANCER RISKS FOR AUSTRALIAN WOMEN WITH A BRCA1 OR A BRCA2 MUTATION
Published in ANZ journal of surgery (01-05-2007)“…One of the primary purposes of genetic testing for mutations in the BRCA1 and BRCA2 genes in patients with familial breast/ovarian cancer has been to provide…”
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Doctors breaching patient privacy: Orwell redux
Published in Medical journal of Australia (20-06-2011)Get full text
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Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study
Published in International journal of colorectal disease (01-06-2010)“…Objective Hyperplastic polyposis is a colonic polyposis condition of unknown aetiology. The purpose of this study was to examine the spectrum of phenotypic…”
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Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucins
Published in Modern pathology (01-07-2013)“…Mismatch repair-deficient breast cancers may be identified in Lynch syndrome mutation carriers, and have clinicopathological features in common with mismatch…”
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New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
Published in Human molecular genetics (12-10-2000)“…Opitz syndrome (OS) is a genetically heterogeneous malformation disorder. Patients with OS may present with a variable array of malformations that are…”
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Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)
Published in Familial cancer (01-06-2011)“…Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial…”
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Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis
Published in Familial cancer (2009)“…The identification of Lynch syndrome has been greatly assisted by the advent of tumour immunohistochemistry (IHC) for mismatch repair (MMR) proteins, and by…”
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Erratum to: Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study
Published in International journal of colorectal disease (01-12-2010)Get full text
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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
Published in American journal of human genetics (05-05-2016)“…Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of…”
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