Abstract
A Polish family was identified in which multifocal clear cell renal carcinoma segregated with a balanced constitutional chromosome translocation, t(2;3)(q33;q21), similar to the renal cell cancer-associated t(2;3)(q35;q21) reported in a Dutch family. Bacterial artificial chromosome (BAC) contigs encompassing the 2q and 3q breakpoints were constructed and BACs crossing the breakpoints were partially sequenced. All known regional markers, genes, and expressed sequence tags (ESTs) were mapped relative to the contigs, as well as to the breakpoint sequences. Two single ESTs mapped within the 2q breakpoint BAC, whereas the repeat-rich 3q breakpoint region was gene poor. Physical mapping suggested that the 3q break was in 3q13, possibly near the border with 3q21. Physical mapping illustrated that the 2q break was closely telomeric to the 2q31 FRA2G site, consistent with the G-band assignment. Characterization of full-length cDNAs for the ESTs near the 2q break will determine if a gene(s) is altered by this familial translocation.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: June 8, 2001 / Accepted: August 27, 2001
Rights and permissions
About this article
Cite this article
Podolski, J., Byrski, T., Zajaczek, S. et al. Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. J Hum Genet 46, 685–693 (2001). https://doi.org/10.1007/s100380170001
Issue Date:
DOI: https://doi.org/10.1007/s100380170001
This article is cited by
-
PTPRF is disrupted in a patient with syndromic amastia
BMC Medical Genetics (2011)
-
Case report: renal cell carcinoma segregating with a t(2;3)(q37.3;q13.2) chromosomal translocation in an Ashkenazi Jewish family
Familial Cancer (2011)