Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study

M Mahmoodi; T Nguyen-Dumont; F Hammet; BJ Pope; DJ Park; MC Southey; JM Darlow; F Bruinsma; I Winship

Journal article

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study

M Mahmoodi, T Nguyen-Dumont, F Hammet, BJ Pope, DJ Park, MC Southey, JM Darlow, F Bruinsma, I Winship

Familial Cancer | SPRINGER | Published : 2017

DOI: 10.1007/s10689-016-9961-x

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Abstract

An apparently balanced t(2;3)(q37.3;q13.2) translocation that appears to segregate with renal cell carcinoma (RCC) has indicated potential areas to search for the elusive genetic basis of clear cell RCC. We applied Hi-Plex targeted sequencing to analyse germline DNA from 479 individuals affected with clear cell RCC for this breakpoint translocation and genetic variants in neighbouring genes on chromosome 2, ACKR3 and COPS8. While only synonymous variants were found in COPS8, one of the missense variants in ACKR3:c.892C>T, observed in 4/479 individuals screened (0.8%), was predicted likely to damage ACKR3 function. Identification of causal genes for RCC has potential clinical utility, where r..

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University of Melbourne Researchers

Tu Nguyen Author

Bernard Pope Author

Daniel Park Author

Melissa Southey Author

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Grants

Awarded by State Government of Victoria

Funding Acknowledgements

TN-D was a Susan G. Komen for the Cure Postdoctoral Fellow. MCS is a National Health and Medical Research Council Senior Research Fellow. This work was supported by the Australian National Health and Medical Research Council (NHMRC) (APP1025879), Cancer Council Victoria APP1066612 and by a Victorian Life Sciences Computation Initiative (VLSCI) grant (Number VR0182) on its Peak Computing Facility, an initiative of the Victorian Government.