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CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
J Med Genet 1999; 36(6):490-3JM

Abstract

The CDKN2A gene has been implicated in cutaneous malignant melanoma (CMM) in about 40% of families with linkage to chromosome 9p21, while a small proportion of families have mutations in the CDK4 gene. In order to estimate the importance of these genes in the predisposition to CMM in Spanish families and patients we have analysed, by SSCA, a total of 56 subjects belonging to 34 CMM families, and nine patients with multiple CMM and other neoplasia. We have detected germline CDKN2A mutations in six out of the 34 families (17%). A frameshift mutation (358delG) and four missense mutations (G59V, G101W (two cases), D84Y, and R87W) were identified. Five CMM patients from different families (14%) carried the A148T variant, which is known not to affect p16 activity. No mutations were detected in the patients with multiple CMM or other neoplasms. We have not found mutations either in exon 1 beta of the CDKN2A gene or in exon 2A of CDK4. Linkage analysis of the 9p21 region showed exclusion for one of the families for CMM and for four families for CMM/dysplastic naevi. This study indicates a small role for CDKN2A in Spanish CMM families and suggests that other genes are also responsible for CMM predisposition.

Authors+Show Affiliations

Medical and Molecular Genetics Centre-IRO, Hospital Duran i Reynals, Barcelona, Catalonia, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10874641

Citation

Ruiz, A, et al. "CDKN2A Mutations in Spanish Cutaneous Malignant Melanoma Families and Patients With Multiple Melanomas and Other Neoplasia." Journal of Medical Genetics, vol. 36, no. 6, 1999, pp. 490-3.
Ruiz A, Puig S, Malvehy J, et al. CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. J Med Genet. 1999;36(6):490-3.
Ruiz, A., Puig, S., Malvehy, J., Lázaro, C., Lynch, M., Gimenez-Arnau, A. M., ... Castel, T. (1999). CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. Journal of Medical Genetics, 36(6), pp. 490-3.
Ruiz A, et al. CDKN2A Mutations in Spanish Cutaneous Malignant Melanoma Families and Patients With Multiple Melanomas and Other Neoplasia. J Med Genet. 1999;36(6):490-3. PubMed PMID: 10874641.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. AU - Ruiz,A, AU - Puig,S, AU - Malvehy,J, AU - Lázaro,C, AU - Lynch,M, AU - Gimenez-Arnau,A M, AU - Puig,L, AU - Sánchez-Conejo,J, AU - Estivill,X, AU - Castel,T, PY - 2000/6/30/pubmed PY - 2000/6/30/medline PY - 2000/6/30/entrez SP - 490 EP - 3 JF - Journal of medical genetics JO - J. Med. Genet. VL - 36 IS - 6 N2 - The CDKN2A gene has been implicated in cutaneous malignant melanoma (CMM) in about 40% of families with linkage to chromosome 9p21, while a small proportion of families have mutations in the CDK4 gene. In order to estimate the importance of these genes in the predisposition to CMM in Spanish families and patients we have analysed, by SSCA, a total of 56 subjects belonging to 34 CMM families, and nine patients with multiple CMM and other neoplasia. We have detected germline CDKN2A mutations in six out of the 34 families (17%). A frameshift mutation (358delG) and four missense mutations (G59V, G101W (two cases), D84Y, and R87W) were identified. Five CMM patients from different families (14%) carried the A148T variant, which is known not to affect p16 activity. No mutations were detected in the patients with multiple CMM or other neoplasms. We have not found mutations either in exon 1 beta of the CDKN2A gene or in exon 2A of CDK4. Linkage analysis of the 9p21 region showed exclusion for one of the families for CMM and for four families for CMM/dysplastic naevi. This study indicates a small role for CDKN2A in Spanish CMM families and suggests that other genes are also responsible for CMM predisposition. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/10874641/CDKN2A_mutations_in_Spanish_cutaneous_malignant_melanoma_families_and_patients_with_multiple_melanomas_and_other_neoplasia_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=10874641 DB - PRIME DP - Unbound Medicine ER -