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01-06-2011

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

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

Published in: Familial Cancer | Issue 2/2011

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.

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Title: Case report: renal cell carcinoma segregating with a t(2;3)(q37.3;q13.2) chromosomal translocation in an Ashkenazi Jewish family
Authors: L. McKay
M. Frydenberg
L. Lipton
F. Norris
I. Winship
Publication date: 01-06-2011
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 2/2011
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-010-9413-y

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