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Germline
- Source :
- Journal of medical genetics. 54(9)
- Publication Year :
- 2016
-
Abstract
- Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation inGermline mutations in
- Subjects :
- Male
Heterozygote
Receptor, Platelet-Derived Growth Factor alpha
Genes, p16
Sarcoma
Soft Tissue Neoplasms
Pedigree
Genetic Determinism
Exome Sequencing
Cyclin-Dependent Kinase Inhibitor p18
Humans
Female
Genetic Predisposition to Disease
Cyclin-Dependent Kinase Inhibitor p16
Germ-Line Mutation
Subjects
Details
- ISSN :
- 14686244
- Volume :
- 54
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Journal of medical genetics
- Accession number :
- edsair.pmid..........067318fbc9bc6e7b93bdd22848c8a71a