An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes

Genomic profiles of tumors are often unique and represent characteristic mutational signatures defined by DNA damage or DNA repair response processes. The tumor-derived somatic information has been widely used in therapeutic applications, but it is grossly underutilized in the assessment of germline...

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Bibliographic Details
Main Authors: Alison Schwartz, Danielle K. Manning, Diane R. Koeller, Anu Chittenden, Raymond A. Isidro, Connor P. Hayes, Feruza Abraamyan, Monica Devi Manam, Meaghan Dwan, Justine A. Barletta, Lynette M. Sholl, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Oncology
Subjects:
somatic and germline integration
tumor signature profile
germline VUS
lynch syndrome
paraganglioma
Li-Fraumeni syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2022.942741/full

Internet

https://www.frontiersin.org/articles/10.3389/fonc.2022.942741/full

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