Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional translocations > t(3;6)(q22;q16.1)

t(3;6)(q22;q16.1)

Saturday 1 September 2007

A subset of familial cases of renal cell carcinoma harbors a balanced constitutional chromosome 3 translocation. To date nine different chromosome 3 translocations have been associated with familial or multicentric clear cell RCC; and in three cases chromosome 6 was also involved.

The constitutional translocation, t(3;6)(q22;q16.1) is associated with multicentric RCC without evidence of VHL target gene dysregulation.

An analysis of breakpoint sequences revealed a 1.3-kb deletion on chromosome 6 within the intron of a 2 exon predicted gene (NT_007299.434).

Candidate TSGs

- EPHB1
- EPHA7
- PPP2R3A
- RNF184
- STAG1

See also

- clear cell renal cell carcinoma

References

- Foster RE, Abdulrahman M, Morris MR, Prigmore E, Gribble S, Ng B, Gentle D, Ready S, Weston PM, Wiesener MS, Kishida T, Yao M, Davison V, Barbero JL, Chu C, Carter NP, Latif F, Maher ER. Characterization of a 3;6 translocation associated with renal cell carcinoma. Genes Chromosomes Cancer. 2007 Apr;46(4):311-7. PMID: 17205537