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Category: Publications

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.

Authors Thompson BA, Goldgar DE, Paterson C, et al. Citation Hum Mutat. 2013 Jan;34(1):200-9. PubMedLink https://pubmed.ncbi.nlm.nih.gov/22949379/ PMCID PMC3538359

Posted in PublicationsTagged 2012

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Authors Thompson BA, Greenblatt MS, Vallee MP, et al. Citation Hum Mutat. 2013 Jan;34(1):255-65. PubMedLink https://pubmed.ncbi.nlm.nih.gov/22949387/ PMCID PMC4318556

Posted in PublicationsTagged 2012

Recurrent and founder mutations in the PMS2 gene.

Authors Tomsic J, Senter L, Liyanarachchi S, et al. Citation Clin Genet. 2013 Mar;83(3):238-43. PubMedLink https://pubmed.ncbi.nlm.nih.gov/22577899/ PMCID PMC3445698

Posted in PublicationsTagged 2012

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.

Authors Walsh MD, Buchanan DD, Pearson SA, et al. Citation Mod Pathol. 2012 May;25(5):722-30. PubMedLink https://pubmed.ncbi.nlm.nih.gov/22322191/ PMCID PMC3477239

Posted in PublicationsTagged 2012

Carcinogen metabolism genes, red meat and poultry intake, and colorectal cancer risk.

Authors Wang J, Joshi AD, Corral R, et al. Citation Int J Cancer. 2012 Apr 15;130(8):1898-907. PubMedLink https://pubmed.ncbi.nlm.nih.gov/21618522/ PMCID PMC3883510

Posted in PublicationsTagged 2012

Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.

Authors Ward RL, Dobbins T, Lindor NM, et al. Citation Genet Med. 2013 Jan;15(1):25-35. PubMedLink https://pubmed.ncbi.nlm.nih.gov/22878509/ PMCID PMC3908650

Posted in PublicationsTagged 2012

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome.

Authors Win AK, Lindor NM, Young JP, et al. Citation J Natl Cancer Inst. 2012 Sep 19;104(18):1363-72. PubMedLink https://pubmed.ncbi.nlm.nih.gov/22933731/ PMCID PMC3529597

Posted in PublicationsTagged 2012

Cancer risks for relatives of patients with serrated polyposis.

Authors Win AK, Walters RJ, Buchanan DD, et al. Citation Am J Gastroenterol. 2012 May;107(5):770-8. PubMedLink https://pubmed.ncbi.nlm.nih.gov/22525305/ PMCID PMC3488375

Posted in PublicationsTagged 2012

Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study.

Authors Win AK, Young JP, Lindor NM, et al. Citation J Clin Oncol. 2012 Mar 20;30(9):958-64. PubMedLink https://pubmed.ncbi.nlm.nih.gov/22331944/ PMCID PMC3341109

Posted in PublicationsTagged 2012

The Australasian Colorectal Cancer Family Registry: Reducing the impact of colorectal cancer.

Authors Winship I, Win AK. Citation Med J Aust 2012; 197 (9): 480-481. PubMedLink https://pubmed.ncbi.nlm.nih.gov/23121570/ PMCID NA

Posted in PublicationsTagged 2012

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