Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

M Clendenning; A Huang; H Jayasekara; M Lorans; S Preston; N O’Callaghan; BJ Pope; FA Macrae; IM Winship; RL Milne; GG Giles; DR English; JL Hopper; AK Win; MA Jenkins; MC Southey; C Rosty; DD Buchanan

Journal article

Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

M Clendenning, A Huang, H Jayasekara, M Lorans, S Preston, N O’Callaghan, BJ Pope, FA Macrae, IM Winship, RL Milne, GG Giles, DR English, JL Hopper, AK Win, MA Jenkins, MC Southey, C Rosty, DD Buchanan

Familial Cancer | SPRINGER | Published : 2018

DOI: 10.1007/s10689-017-0013-y

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Abstract

In colorectal cancers (CRCs) with tumour mismatch repair (MMR) deficiency, genes involved in the host immune response that contain microsatellites in their coding regions, including beta-2-microglobulin (B2M), can acquire mutations that may alter the immune response, tumour progression and prognosis. We screened the coding microsatellites within B2M for somatic mutations in MMR-deficient CRCs and adenomas to determine associations with tumour subtypes, clinicopathological features and survival. Incident MMR-deficient CRCs from Australasian Colorectal Cancer Family Registry (ACCFR) and the Melbourne Collaborative Cohort Study participants (n = 144) and 63 adenomas from 41 MMR gene mutation ca..

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University of Melbourne Researchers

Mark Clendenning Author

Harindra Jayasekara Author

Bernard Pope Author

Finlay Macrae Author

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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-1014-01. 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 K. Win is an Australian National Health and Medical Council (NHMRC) Early Career Fellow. Melissa C. Southey is a NHMRC Senior Research Fellow. Mark A. Jenkins is a NHMRC Senior Research Fellow. John L. Hopper is a NHMRC Senior Principal Research Fellow and Distinguished Visiting Professor at Seoul National University, Korea. Christophe Rosty is the Jass Pathology Fellow. Daniel D. Buchanan is a University of Melbourne Research at Melbourne Accelerator Program (R@ MAP) Senior Research Fellow and NHMRC R. D. Wright Career Development Fellow.