S. Arnold

发表

Promoter Hypermethylation Frequency and BRAF Mutations Distinguish Hereditary Non-Polyposis Colon Cancer from Sporadic MSI-H Colon Cancer

B. Leggett, J. Jass, L. Simms, 2004, Familial Cancer.

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Alexander M. Metcalf, A. Spurdle, F. Lose, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

Aung Ko Win, J. Hopper, S. Thibodeau, 2012, Modern Pathology.

Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis

M. Woods, J. Hopper, M. Jenkins, 2009, Familial Cancer.

Lynch syndrome-associated breast cancers: clinicopathological characteristics of a case series from the colon CFR

J. Hopper, M. Cummings, M. Jenkins, 2010 .

Molecular, Pathologic, and Clinical Features of Early-Onset Endometrial Cancer: Identifying Presumptive Lynch Syndrome Patients

A. Spurdle, B. Leggett, M. Cummings, 2008, Clinical Cancer Research.

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 Registry

Steven Gallinger, John L Hopper, Sean V Tavtigian, 2013, Human mutation.

Reply to J. Moline et al.

Alexander M. Metcalf, A. Spurdle, F. Lose, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Role of inherited defects of MYH in the development of sporadic colorectal cancer

N. Matsubara, B. Leggett, J. Jass, 2004, Genes, chromosomes & cancer.

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

John L Hopper, Sean V Tavtigian, Michael O Woods, 2009, Human mutation.

Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer.

J. Hopper, B. Leggett, M. Jenkins, 2005, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

J. Potter, J. Hopper, S. Thibodeau, 2010, Clinical Cancer Research.

Risks of Lynch syndrome cancers for MSH6 mutation carriers.

Finlay Macrae, John L Hopper, Loic Le Marchand, 2010, Journal of the National Cancer Institute.

BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum

N. Matsubara, B. Leggett, J. Jass, 2004, Gut.

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

Brian Thompson, C. Paterson, M. Clendenning, 2012, Hereditary Cancer in Clinical Practice.

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

A. Spurdle, C. Paterson, B. Thompson, 2012, Hereditary Cancer in Clinical Practice.

Stability of BAT26 in Lynch syndrome colorectal tumours

J. Hopper, S. Thibodeau, A. Spurdle, 2007, European Journal of Human Genetics.