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Article

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

Familial cancer - 1 Jul 2017

Mahmoodi Maryam, Nguyen-Dumont Tu, Hammet Fleur, Pope Bernard J, Park Daniel J, Southey Melissa C, Darlow John M, Bruinsma Fiona, Winship Ingrid

Abstract excerpt

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...

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Identifiers

PMID: 28063109
DOI: 10.1007/s10689-016-9961-x

Genes

ACKR3
COPS8

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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