Human pathology

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CCND1

MIM.168461 11q13

cyclin-D1, CYLD1, BCL1

The proto-oncogene cyclin D1 has been implicated in the genesis of a large proportion of human tumors from diverse histological origins.

Function

- activator of cdk4 and cdk6 in progression through the G1 phase of the cell cycle

Pathology

- germline mutations in familial cylindromatosis
- somatic mutations in

  • sporadic spiradenocylindroma (11756779)

References

- Strobel P, Zettl A, Ren Z, Starostik P, Riedmiller H, Storkel S, Muller-Hermelink HK, Marx A. Spiradenocylindroma of the kidney: clinical and genetic findings suggesting a role of somatic mutation of the CYLD1 gene in the oncogenesis of an unusual renal neoplasm. Am J Surg Pathol. 2002 Jan;26(1):119-24. PMID: 11756779

- Chung DC. Cyclin D1 in human neuroendocrine tumorigenesis. Ann N Y Acad Sci. 2004 Apr;1014:209-17. PMID: 15153436

- Ewen ME, Lamb J. The activities of cyclin D1 that drive tumorigenesis. Trends Mol Med. 2004 Apr;10(4):158-62. PMID: 15059606