Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer
- 1 January 1994
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 6 (1) , 106-110
- https://doi.org/10.1038/ng0194-106
Abstract
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.Keywords
This publication has 19 references indexed in Scilit:
- High-Density Genetic Map of the BRCA1 Region of Chromosome 17q12-q21Genomics, 1993
- Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.Proceedings of the National Academy of Sciences, 1993
- A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplexNature Genetics, 1993
- The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genesPublished by Elsevier ,1992
- A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosisCell, 1992
- Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic HyperkeratosisScience, 1992
- Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysesCell, 1991
- Familial breast-ovarian cancer locus on chromosome 17q12-q23The Lancet, 1991
- Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity.The Journal of cell biology, 1986
- Localized epidermolytic hyperkeratosis. A form of keratoderma of the palms and solesArchives of Dermatology, 1970