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06.01.2017 | Original Article

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

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

Erschienen in: Familial Cancer | Ausgabe 3/2017

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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 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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Titel: Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study
verfasst von: Maryam Mahmoodi
Tu Nguyen-Dumont
Fleur Hammet
Bernard J. Pope
Daniel J. Park
Melissa C. Southey
John M. Darlow
Fiona Bruinsma
Ingrid Winship
Publikationsdatum: 06.01.2017
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 3/2017
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-016-9961-x

Neu im Fachgebiet Onkologie

25.04.2024 | Nierenkarzinom | Nachrichten

Springer Medizin

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

Abstract

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Abstract

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