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Structural Alterations in the 5′ Region of the BCL2 Gene in Follicular Lymphomas With BCL2 ‐MBR or BCL2 ‐MCR Rearrangements
Author(s) -
Mikraki Vasiliki,
Ladanyi Marc,
Chaganti R. S. K.
Publication year - 1991
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870030206
Subject(s) - chromosomal translocation , microbiology and biotechnology , point mutation , biology , gene , follicular lymphoma , germline , gene rearrangement , breakpoint , genetics , mutation , lymphoma , immunology
We report a new class of molecular lesions in the 5′ region of the BCL2 protooncogene when it undergoes a t(14;18) translocation‐associated rearrangement in the major break cluster (MBR) or minor break cluster (MCR) regions. Among 52 tumors assayed for BCL2 rearrangements using the MBR, MCR, and 5′ probes, seven (six with MBR and one with MCR translocation breaks) showed aberrant bands in unique enzyme digests of DNA hybridized with the 5′ probe. The aberrant bands in four tumors were in Hin dIII digests, in two they were in Eco RI digests, while the aberrant band in one was in a Bam HI digest. The two Eco RI bands and two of the four Hin dIII bands were of identical sizes. Germline polymorphisms as the source of these bands was ruled out by appropriate control experiments. These results suggest that the bands were derived from point mutations or small deletions in the 5′ region of BCL2 . The significance of this alteration to BCL2 function in translocation‐carrying tumors remains to be determined.