Germline p16 mutations in familial melanoma
- 1 September 1994
- journal article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 8 (1), 15-21
- https://doi.org/10.1038/ng0994-15
Abstract
The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds. Six of these mutations were identified in 33/36 melanoma cases in nine families, whereas two were detected in normal controls and are not disease-related. The melanoma-specific mutations were detected in 9p21-linked, but not in 1p36-linked, families, thereby confirming previous reports of genetic heterogeneity. Functional analyses of these mutations will confirm those causally related to the development of familial melanoma.Keywords
This publication has 18 references indexed in Scilit:
- A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor TypesScience, 1994
- A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4Nature, 1993
- Dinucleotide repeat polymorphism at the D9S126 locus (9p21)Human Molecular Genetics, 1993
- Risk of Melanoma and Other Cancers in Melanoma-Prone FamiliesJournal of Investigative Dermatology, 1993
- Risk of Melanoma and Other Cancers in Melanoma-Prone Families.Journal of Investigative Dermatology, 1993
- Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysisHuman Molecular Genetics, 1993
- Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22Science, 1992
- Mapping the Gene for Hereditary Cutaneous Malignant Melanoma–Dysplastic Nevus to Chromosome LpNew England Journal of Medicine, 1989
- Dysplastic nevi on the scalp of prepubertal children from melanoma-prone familiesThe Journal of Pediatrics, 1983
- Testing for heterogeneity of recombination fraction values in Human GeneticsAnnals of Human Genetics, 1963