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

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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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Acknowledgments

We thank the IMVS for performing VHL analysis and the VCGS for karyotypic analysis. We also thank the Cabrini Institute and the Genetics Clinic of the Royal Melbourne Hospital for their support of this study.

Conflict of Interest

The authors declare there are no conflicts of interest associated with this report either financially or personally.

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Authors and Affiliations

  1. Cabrini Institute, 183 Wattletree Rd, Malvern, Victoria, 3045, Australia

    L. McKay

  2. Department of Surgery, Monash University, Melbourne, Victoria, Australia

    M. Frydenberg

  3. St Frances Xavier Cabrini Hospital, Malvern, Victoria, Australia

    M. Frydenberg & L. Lipton

  4. Ludwig Institute for Cancer Research, Melbourne, Victoria, Australia

    L. Lipton

  5. The Royal Melbourne Hospital, Parkville, Victoria, Australia

    L. Lipton & I. Winship

  6. Cytogenetics Laboratory, Victorian Clinical Genetics Service, Parkville, Victoria, Australia

    F. Norris

  7. University of Melbourne, Parkville, Victoria, Australia

    I. Winship

Authors
  1. L. McKay
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  2. M. Frydenberg
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  3. L. Lipton
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  4. F. Norris
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  5. I. Winship
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Corresponding author

Correspondence to L. McKay.

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McKay, L., Frydenberg, M., Lipton, L. et al. Case report: renal cell carcinoma segregating with a t(2;3)(q37.3;q13.2) chromosomal translocation in an Ashkenazi Jewish family. Familial Cancer 10, 349–353 (2011). https://doi.org/10.1007/s10689-010-9413-y

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  • DOI: https://doi.org/10.1007/s10689-010-9413-y

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