Retinoblastoma (Rb) is a cancer of immature retina cells that occurs in infants and small children1.
The protein encoded by the 180kb Retinoblastoma 1 (RB1) tumour suppressor gene, located on 13q14.2, may form complexes with oncoproteins and block their tumourigenic activity2. Deletion of this gene, particularly homozygous deletion, is therefore a causal event in the development of retinoblastoma.
The RB1 gene also plays a role in secondary tumours arising in retinoblastoma patients, such as osteosarcoma and some soft tissue sarcomas3. The RB1 gene may also be deleted as a result of a progressional tumourigenic event in some leukaemias4, as well as in some breast, lung, bladder, oesophagus and prostate cancers5.
1. Heim and Mitelman, Cancer Cytogenetics 2nd Ed. 1995
2. Whyte et al., Nature 1988;334(6178):124-9
3. Draper et al., Br J Cancer 1986;53(5):661-71
4. Juneau et al., Cancer Genet Cytogenet. 1998 Jun;103(2):117-23
5. Benedict et al., J. clin. Invest., 85, 988–993 (1990)
- Area of Interest*
- Breast Cancer, Oesophageal Cancer, Retinoblastoma, Lung Cancer
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples, or formalin-fixed paraffin-embedded (FFPE) tissues.
*Disease information supported by the literature and is not a reflection of the intended purpose of this product.