title: Case report: renal cell carcinoma segregating with a t(2;3)(q37.3;q13.2) chromosomal translocation in an Ashkenazi Jewish family.
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.
authors.affiliation: Cabrini Institute, 183 Wattletree Rd, Malvern, Victoria 3045, Australia. lmckay@cabrini.com.au
authors.forename: L
authors.initials: L
authors.lastname: McKay
authors.forename: M
authors.initials: M
authors.lastname: Frydenberg
authors.forename: L
authors.initials: L
authors.lastname: Lipton
authors.forename: F
authors.initials: F
authors.lastname: Norris
authors.forename: I
authors.initials: I
authors.lastname: Winship
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D006801:Humans; D007585:Jews; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014178:Translocation, Genetic