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Defining the position of the breakpoint of the constitutional t(3;6) occurring in a family with renal cell carcinoma

✍ Scribed by Anke van den Berg; Anneke Y. van der Veen; Miriam M. F. Hulsbeek; Gyula Kovacs; Robert M. Gemmill; Harry A. Drabkin; Charles H. C. M. Buys

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
463 KB
Volume
12
Category
Article
ISSN
1045-2257

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✦ Synopsis

In a family with a constitutional translocation t(3;6), the oldest member carrying the translocation had developed multiple nonpapillary renal cell carcinomas (RCCs). The translocation breakpoint was positioned between 3p I 3 and 3p 14. I. This is close t o the region in which a t(3;8) breakpoint has been reported in a family with hereditary RCC. We defined the location of the t(3;6) and t(38) breakpoints by fluorescence in situ hybridization (FISH) analysis with yeast artificial chromosomes (YACs) from the 3p 14-I3 region. Both interphase nuclei and metaphase cells from translocation-carrying members of both families have been used, allowing the definition of flanking YACs for each breakpoint. We could thereby clearly confirm that the breakpoints are different, the t(3;8) breakpoint being most distal. In addition, we have shown that both translocation breakpoints are located distal t o the homozygously deleted region in the U2020 lung cancer cell line. Genes Chromosom Cancer 12:224-228 (1995).

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