Case report: Renal cell carcinoma segregating with a t(2;3)(q37.3;q13.2) chromosomal translocation in an Ashkenazi Jewish family

L. McKay, M. Frydenberg, L. Lipton, F. Norris, I. Winship

Research output: Contribution to journalArticleOtherpeer-review

3 Citations (Scopus)

Abstract

Chromosome translocations involving chromosome 3 have previously been associated with the development of renal cell carcinoma. In this report we describe an Ashkenazi Jewish family with a previously unreported balanced constitutional translocation (t(2;3)(q37.3;q13.2)) segregating with the development of clear cell renal carcinomata in three family members spanning two generations. We outline the difficulties with the clinical utility of this finding for genetic counselling and risk management strategies. We suggest that an additional renal cancer susceptibility gene may exist at 3q13.2, and review known breakpoints in the autosomes which are associated with clear cell renal cell carcinoma.

Original languageEnglish
Pages (from-to)349-353
Number of pages5
JournalFamilial Cancer
Volume10
Issue number2
DOIs
Publication statusPublished - Jun 2011

Keywords

  • Chromosome 3 translocation
  • Clear cell renal carcinoma
  • Hereditary cancer

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