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

Miguel Angel Pujana, Anna Ruiz, Cèlia Badenas, Josep Anton Puig-Butille, Marga Nadal, Mitchell Stark, Laia Gómez, Joan Valls, Xavier Solé, Pilar Hernández, Celia Cerrato, Irene Madrigal, Rafael De Cid, Helena Aguilar, Gabriel Capellá, Santiago Cal, Michael R. James, Graeme J. Walker, Josep Malvehy, Montserrat Milà & 3 others Nicholas K. Hayward, Xavier P. Estivill, Susana Puig

Research output: Contribution to journalArticle

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Abstract

A large number of nevi (LNN) is a high risk phenotypic trait for developing cutaneous malignant melanoma (CMM). In this study, the breakpoints of a t(9;12)(p21;q13) balanced chromosome translocation were finely mapped in a family with LNN and CMM. Molecular characterization of the 9p21 breakpoint identified a novel gene C9orf14 expressed in melanocytes disrupted by the translocation. Integrative analysis of functional genomics data was applied to determine the role of C9orf14 in CMM development. An analysis of genome-wide DNA copy number alterations in melanoma tumors revealed the loss of the C9orf14 locus, located proximal to CDKN2A, in approximately one-fourth of tumors. Analysis of gene expression data in cancer cell lines and melanoma tumors suggests a loss of C9orf14 expression in melanoma tumorigenesis. Taken together, our results indicate that C9orf14 is a candidate tumor-suppressor for nevus development and late stage melanoma at 9p21, a region frequently deleted in different types of human cancers.

Original languageEnglish
Pages (from-to)155-162
Number of pages8
JournalGenes Chromosomes and Cancer
Volume46
Issue number2
DOIs
Publication statusPublished - Feb 2007
Externally publishedYes

Fingerprint

Genomics
Chromosomes
Nevus
Melanoma
Neoplasms
Melanocytes
Tumor Cell Line
Carcinogenesis
Genome
Gene Expression
DNA
Genes
Cutaneous Malignant Melanoma

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

Cite this

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. / Pujana, Miguel Angel; Ruiz, Anna; Badenas, Cèlia; Puig-Butille, Josep Anton; Nadal, Marga; Stark, Mitchell; Gómez, Laia; Valls, Joan; Solé, Xavier; Hernández, Pilar; Cerrato, Celia; Madrigal, Irene; De Cid, Rafael; Aguilar, Helena; Capellá, Gabriel; Cal, Santiago; James, Michael R.; Walker, Graeme J.; Malvehy, Josep; Milà, Montserrat; Hayward, Nicholas K.; Estivill, Xavier P.; Puig, Susana.

In: Genes Chromosomes and Cancer, Vol. 46, No. 2, 02.2007, p. 155-162.

Research output: Contribution to journalArticle

Pujana, MA, Ruiz, A, Badenas, C, Puig-Butille, JA, Nadal, M, Stark, M, Gómez, L, Valls, J, Solé, X, Hernández, P, Cerrato, C, Madrigal, I, De Cid, R, Aguilar, H, Capellá, G, Cal, S, James, MR, Walker, GJ, Malvehy, J, Milà, M, Hayward, NK, Estivill, XP & Puig, S 2007, '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 and Cancer, vol. 46, no. 2, pp. 155-162. https://doi.org/10.1002/gcc.20396
Pujana, Miguel Angel ; Ruiz, Anna ; Badenas, Cèlia ; Puig-Butille, Josep Anton ; Nadal, Marga ; Stark, Mitchell ; Gómez, Laia ; Valls, Joan ; Solé, Xavier ; Hernández, Pilar ; Cerrato, Celia ; Madrigal, Irene ; De Cid, Rafael ; Aguilar, Helena ; Capellá, Gabriel ; Cal, Santiago ; James, Michael R. ; Walker, Graeme J. ; Malvehy, Josep ; Milà, Montserrat ; Hayward, Nicholas K. ; Estivill, Xavier P. ; Puig, Susana. / 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. In: Genes Chromosomes and Cancer. 2007 ; Vol. 46, No. 2. pp. 155-162.
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abstract = "A large number of nevi (LNN) is a high risk phenotypic trait for developing cutaneous malignant melanoma (CMM). In this study, the breakpoints of a t(9;12)(p21;q13) balanced chromosome translocation were finely mapped in a family with LNN and CMM. Molecular characterization of the 9p21 breakpoint identified a novel gene C9orf14 expressed in melanocytes disrupted by the translocation. Integrative analysis of functional genomics data was applied to determine the role of C9orf14 in CMM development. An analysis of genome-wide DNA copy number alterations in melanoma tumors revealed the loss of the C9orf14 locus, located proximal to CDKN2A, in approximately one-fourth of tumors. Analysis of gene expression data in cancer cell lines and melanoma tumors suggests a loss of C9orf14 expression in melanoma tumorigenesis. Taken together, our results indicate that C9orf14 is a candidate tumor-suppressor for nevus development and late stage melanoma at 9p21, a region frequently deleted in different types of human cancers.",
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