Article
Identification of novel hereditary cancer genes by whole exome sequencing.
Cancer letters - 28 Dec 2015
Sokolenko Anna P, Suspitsin Evgeny N, Kuligina Ekatherina Sh, Bizin Ilya V, Frishman Dmitrij, Imyanitov Evgeny N
Abstract excerpt
Whole exome sequencing (WES) provides a powerful tool for medical genetic research. Several dozens of WES studies involving patients with hereditary cancer syndromes have already been reported. WES led to breakthrough in understanding of the genetic basis of some exceptionally rare syndromes; for example, identification of germ-line SMARCA4 mutations in patients with ovarian hypercalcemic small cell carcinomas...
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