A Scoring Model and Protocol to Adapt Universal Screening for Lynch Syndrome to Identify Germline Pathogenic Variants by Next Generation Sequencing from Colorectal Cancer Patients and Cascade Screening

A Scoring Model and Protocol to Adapt Universal Screening for Lynch Syndrome to Identify Germline Pathogenic Variants by Next Generation Sequencing from Colorectal Cancer Patients and Cascade Screening

Identification of germline pathogenic variants (PV) predisposing to Lynch syndrome (LS) is an important step for effective use of cascade screening of extended at-risk lineages, leading to reduced morbidity and mortality due to colorectal cancer (CRC). As a general rule, however, next generation seq...

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Bibliographic Details
Main Authors: Ramadhani Chambuso, Barbara Robertson, Raj Ramesar
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Cancers
Subjects:
Lynch syndrome
colorectal cancer
Lynch syndrome scoring model
germline pathogenic variants
next generation sequencing
cascade screening
Online Access:https://www.mdpi.com/2072-6694/14/12/2901

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https://www.mdpi.com/2072-6694/14/12/2901

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