Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study
AuthorMahmoodi, M; Tu, N-D; Hammet, F; Pope, BJ; Park, DJ; Southey, MC; Darlow, JM; Bruinsma, F; Winship, I
Source TitleFAMILIAL CANCER
University of Melbourne Author/sSouthey, Melissa; Mahmoodi, Maryam; Nguyen, Binh Thieu Tu; Hammet, Fleur; Park, Daniel; Winship, Ingrid; Pope, Bernard; Bruinsma, Fiona
AffiliationMedicine, Dentistry & Health Sciences
Melbourne School of Population and Global Health
Document TypeJournal Article
CitationsMahmoodi, M; Tu, N-D; Hammet, F; Pope, BJ; Park, DJ; Southey, MC; Darlow, JM; Bruinsma, F; Winship, I, Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study, FAMILIAL CANCER, 2017, 16 (3), pp. 411 - 416
Access StatusOpen Access
NHMRC Grant codeNHMRC/1025879
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 risk assessment and risk management can offer better outcomes, with surveillance for at-risk relatives and nephron sparing surgery through earlier intervention.
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