A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers
| Autor: | Antonio M. Lerario, Tremika Le Shan Wilson, Jenae Osborne, Erika Koeppe, Carmen Williams, Tobias Else, Shane C. Quinonez, Kelly B. Cha, Namita G. Hattangady |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Oncology Adult Male Cancer Research medicine.medical_specialty Telomerase Skin Neoplasms Telomere-Binding Proteins Biology Shelterin Complex 03 medical and health sciences Germline mutation CDKN2A Neoplastic Syndromes Hereditary Internal medicine Exome Sequencing Genetics medicine PTEN Humans Exome Genetic Predisposition to Disease neoplasms Thyroid cancer Melanoma Genetics (clinical) Exome sequencing Germ-Line Mutation Aged medicine.disease Pedigree 030104 developmental biology Cancer research biology.protein Female |
| Zdroj: | Familial cancer. 16(4) |
| ISSN: | 1573-7292 |
| Popis: | Melanomas are associated with several hereditary conditions. We present a large family with several family members affected with primary melanomas and dysplastic nevi as well as thyroid cancer and other malignant tumors. Clinical work-up did not reveal a mutation in any of the genes usually considered with evaluation for predisposition to melanoma (BRCA1/2, CDKN2A, CDK4, PTEN, TP53). Whole exome sequencing of five affected family members showed a new variant in POT1. POT1 is associated with the telomere shelterin complex that regulates telomere protection and telomerase access. Germline mutations in POT1 were recently shown to be associated with hereditary predisposition to melanoma. Our findings support a role of POT1 germline mutations in cancer predisposition beyond melanoma development, suggesting a broader phenotype of the POT1-associated tumor predisposition syndrome that might also include thyroid cancer as well as possibly other malignant tumors. |
| Databáze: | OpenAIRE |
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