Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome

The presence of variants of uncertain significance (VUS) in DNA mismatch repair (MMR) genes leads to uncertainty in the clinical management of patients being evaluated for Lynch syndrome (LS). Currently, there is no platform to systematically use tumor-derived evidence alongside germline data for th...

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Bibliographic Details

Published in:	Frontiers in Oncology
Main Authors:	Raymond A. Isidro, Anu Chittenden, McKenzie Walker, Alison Schwartz, Diane R. Koeller, Connor P. Hayes, Busra Unal, Monica Devi Manam, Ryan M. Buehler, Danielle K. Manning, Lynette M. Sholl, Mark S. Redston, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-01-01
Subjects:	somatic and germline integration INT2GRATE tumor signature profile germline VUS Lynch syndrome
Online Access:	https://www.frontiersin.org/articles/10.3389/fonc.2023.1284690/full