title: The reciprocal translocation t(9;16)(q22;p13) is a primary chromosome abnormality in basal cell carcinomas.
abstract: The reciprocal translocation t(9;16)(q22;p13) was identified in three short-term cultured basal cell carcinomas (BCCs). The t(9;16) was the sole anomaly in one clone in two tumors and was accompanied by a second change that also affected the long arm of chromosome 9 in the third. In addition, other cytogenetically unrelated abnormal clones were also found in all three BCCs. The identification of t(9;16)(q22;p13) as a primary chromosomal abnormality in a subset of BCCs (we found it in 3 of 22 tumors) is especially intriguing against the background that the PTCH gene, which when mutated in the germ line presumably gives rise to the autosomal dominant basal cell nevus or Gorlin's syndrome, maps to chromosome band 9q22. None of the genes rearranged in the BCC-specific t(9;16)(q22;p13) translocation have been identified, but we hypothesize that the translocation represents the cytogenetic corollary of a tumorigenic recombination of PTCH with an as yet unknown gene in 16p13. If so, this would be the first time that a tumor suppressor gene causally involved in a hereditary cancer is shown to be frequently rearranged through a specific translocation in sporadic carcinomas of the same type.
authors.affiliation: Department of Genetics, The Norwegian Radium Hospital and Institute for Cancer Research, Oslo.
authors.forename: Y
authors.initials: Y
authors.lastname: Jin
authors.forename: F
authors.initials: F
authors.lastname: Merterns
authors.forename: B
authors.initials: B
authors.lastname: Persson
authors.forename: H P
authors.initials: HP
authors.lastname: Gullestad
authors.forename: C
authors.initials: C
authors.lastname: Jin
authors.forename: T
authors.initials: T
authors.lastname: Warloe
authors.forename: L
authors.initials: L
authors.lastname: Salemark
authors.forename: N
authors.initials: N
authors.lastname: Jonsson
authors.forename: B
authors.initials: B
authors.lastname: Risberg
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
authors.forename: S
authors.initials: S
authors.lastname: Heim
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002280:Basal Cell Carcinoma / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic