Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional translocations > t(9;12)(p21;q13)


Monday 3 September 2007

A large number of nevi (LNN) is a high risk phenotypic trait for developing cutaneous malignant melanoma (CMM). A t(9;12)(p21;q13) balanced chromosome translocation has been described in a family with LNN and CMM.

Molecular bioology

Molecular characterization of the 9p21 breakpoint identified a novel gene C9orf14 expressed in melanocytes disrupted by the translocation. (#17099875#)


- Pujana MA, Ruiz A, Badenas C, Puig-Butille JA, Nadal M, Stark M, Gomez L, Valls J, Sole X, Hernandez P, Cerrato C, Madrigal I, de Cid R, Aguilar H, Capella G, Cal S, James MR, Walker GJ, Malvehy J, Mila M, Hayward NK, Estivill X, Puig S. Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor. Genes Chromosomes Cancer. 2007 Feb;46(2):155-62. PMID: #17099875#