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17-017 RB1 (13q14)

The RB1 (RB transcriptional corepressor 1) gene is located myeloma (MM) and chronic lymphocytic leukemia (CLL).
at 13q14.2 and encodes a protein that plays a crucial role Deletions of 13q14 other than RB1 are associated with a
in cell cycle regulation and maintaining genome stability as more favorable prognosis in CLL patients, whereas dele-
a tumor suppressor. RB1 deletions are commonly found tions encompassing the RB1 locus at 13q14 (present in
in retinoblastoma. However, monoallelic or biallelic de- approximately 20% of all CLL cases) are associated with
letions of RB1 are also prevalent in a wide range of solid shorter overall survival.
tumors and hematological malignancies such as multiple

DELETION

SHGC-8773 D13S1551
3' 5'
Gen Tel
RB1 NORMAL
13q14.2
273 kb

SHGC-110591 RH17637
5' 3'
Gen Tel DELETION
LAMP1

13q34 576 kb

(Not to scale)

References

Draper et al., Br J Cancer 1986;53(5):661-71
Heim and Mitelman, Cancer Cytogenetics 2nd Ed. 1995 www.diagen.com.tr
Di Fiore R, et al. (2013) J Cell Physiol 228: 1676-87.
Ouillette P, et al. (2011) Clin Cancer Res 17: 6778-90.

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