Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer
| Autor: | A. F. Goguel, Nicolas Janin, W. W. Franke, Gilbert M. Lenoir, Steven A. Narod, Olga Serova, Jean Feunteun, Alain Bernheim, D. Torchard, C. Blanchet-Bardon, L. Langbein |
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| Rok vydání: | 1994 |
| Předmět: |
Adult
Male Adolescent Genetic Linkage Type I keratin DNA Mutational Analysis Molecular Sequence Data Hyperkeratosis Breast Neoplasms Locus (genetics) Biology Breast cancer Gene mapping Keratoderma Palmoplantar Genetics medicine Humans Point Mutation Amino Acid Sequence skin and connective tissue diseases DNA Primers Ovarian Neoplasms Epidermolytic Palmoplantar Keratoderma Base Sequence Middle Aged medicine.disease Pedigree Chromosome 17 (human) Keratins Female France Ovarian cancer Chromosomes Human Pair 17 |
| Zdroj: | Nature Genetics. 6:106-110 |
| ISSN: | 1546-1718 1061-4036 |
| Popis: | Epidermolytic palmoplantar keratosis (EPPK) cosegregates with breast and ovarian cancers in a large French pedigree, raising the possibility that a single genetic mutation might cause these conditions and offering a potential lead to the identification of a hereditary breast/ovarian cancer gene. We have performed linkage analysis and show that the EPPK locus lies on the long arm of chromosome 17 near the type I keratin gene cluster and the proposed breast cancer gene (BRCA1). The type I keratin 9 gene has been partially sequenced in four affected individuals. A single base mutation within the rod domain of the protein cosegregates with EPPK in all affected individuals tested. Although inheritance of this mutation is likely responsible for EPPK, it is unlikely to be the cause of the breast and ovarian cancer. |
| Databáze: | OpenAIRE |
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