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. 2003 Sep 22;100(20):11517–11522. doi: 10.1073/pnas.1934602100

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Fig. 1. — Cloning and characterization of the constitutional translocation, t(11;12)(q24;q23), in a family with breast and brain cancer. (A Left) The constitutional t(11, 12)(q24;q23) in an individual with early onset breast cancer (III:1). Karyotype analysis was performed by using standard GTG-banding techniques and the der(11) t(11;12)(q24;q23) and der(12) t(11;12)(q24;q23) are designated by arrows. (Right) Pedigree of a family with early onset breast cancer and brain cancer with onset of 69 years of age. The proband (III:1) is indicated by an arrow whereas individuals available for molecular and cytogenetic testing are indicated with a plus sign. Identified constitutional translocation carriers are designated with t(11;12), and the obligate carriers are marked with a filled black circle. (B) Fluorescence in situ hybridization analysis of the t(11;12)(q24;q23) using the BAC clone 44d21. FITC-labeled BAC44d21 spans the translocation as shown by the presence of signals (green) present on both der(11) t(11;12)(q24;q23) and der(12) t(11;12)(q24;q23). Rhodamine-labeled (red) chromosome 12 whole chromosome probe and chromosome 11 alpha-satellite probe were used as a reference. (C) Southern blot analysis of the t(11;12)(q24;q23). A 3.2-kb aberrant EcoRI fragment (asterisks) was identified by using the 5′BRKPT probe. Confirmation of the sequence obtained from cloning of the 3.2-kb EcoRI fragment was performed by using a chromosome 12-specific probe, BRKPT12.1, derived from the aberrant sequence. (D) Northern analysis of the BCSC-1 gene. (E) LOH analysis of 11q23-q24 in an individual with early onset breast cancer and a constitutional t(11;12)(q24;q23). Six microsatellite markers from the LOH11CR2 region were used to analyze microdissected normal/tumor and peripheral blood lymphocytes (PB) DNA from individual III:1 and the somatic cell hybrid clone KCI 221 CL1 DNA. Noninformative loci are indicated by open circles, retention of heterozygosity by gray circles, and loss of heterozygosity by a filled circle. Results of the marker D11S1328 are shown and loss of the normal chromosome 11 allele is indicated by an arrow.