Journal article

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Stine V Eriksen, Michael D Walsh, Rhiannon J Walters, Stephen N Thibodeau, Jenna Stewart, Susan Preston, Aung Ko Win, Louisa Flander, Driss Ait Ouakrim, Finlay A Macrae, Alex Boussioutas, Ingrid M Winship, Graham G Giles, John L Hopper, Melissa C Southey, Dallas English, Mark A Jenkins

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY | WILEY | Published : 2017

Abstract

BACKGROUND AND AIM: Tumor testing of colorectal cancers (CRC) for mismatch repair (MMR) deficiency is an effective approach to identify carriers of germline MMR gene mutation (Lynch syndrome). The aim of this study was to identify MMR gene mutation carriers in two cohorts of population-based CRC utilizing a combination of tumor and germline testing approaches. METHODS: Colorectal cancers from 813 patients diagnosed with CRC < 60 years of age from the Australasian Colorectal Cancer Family Registry (ACCFR) and from 826 patients from the Melbourne Collaborative Cohort Study (MCCS) were tested for MMR protein expression using immunohistochemistry, microsatellite instability (MSI), BRAFV600E soma..

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Grants

Awarded by National Cancer Institute


Awarded by Australasian Colorectal Cancer Family Registry


Awarded by NHMRC


Awarded by NATIONAL CANCER INSTITUTE


Funding Acknowledgements

This work was supported by grant UM1 CA167551 from the National Cancer Institute and through cooperative agreements with Australasian Colorectal Cancer Family Registry (U01 CA074778 and U01/U24 CA097735) and was conducted under Colon-CFR approval C-AU-0312-01. The Melbourne Collaborative Cohort Study for colorectal cancer was funded by NHMRC project grant 509348 (PI-Dallas English) "Risk Factors for Molecular Subtypes of Colorectal Cancer". Aung Ko Win is an Australian National Health and Medical