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Frequent somatic deletion of the 13q12.3 locus encompassing BRCA2 in
chronic lymphocytic leukemia
JA Garcia-Marco, C Caldas, CM Price, LM Wiedemann, A Ashworth and D Catovsky
Academic Department of Haematology and Cytogenetics, Royal Marsden
Hospital, London, UK.
Chronic lymphocytic leukemia (CLL) has consistent 13q chromosomal
abnormalities detected by conventional cytogenetics. Using interphase
cytogenetics we show deletion of a 1-megabase 13q12.3 locus, encompassing
the BRCA2 gene, in 80% of 35 CLL cases studied. Homozygous deletion of
BRCA2, located within the minimal deletion consensus, was detected in a
significant population of cells in 60% of the cases. Deletion of the
previously described 13q14 locus (analyzed with RB1 and D13S25 probes) was
seen in 63% of the cases. Homozygous deletion of RB1 was seen in one case.
Seven of the cases (32%) with D13S25 deletion had a population of cells
with homozygous deletion. Deletions at the 13q12 and 13q14 loci result from
distinct events because they were not contiguous. These data provide
evidence for the existence of a new tumor suppressor locus in B-cell CLL
located at 13q12.3. BRCA2, located within the minimal deletion consensus,
is a candidate for the gene whose somatic inactivation could play a role in
the initiation and or progression of B-cell CLL.
Volume 88,
Issue 5,
pp. 1568-1575,
09/01/1996
Copyright © 1996 by The American Society of Hematology
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