Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

Abstract The promising expectations about personalized medicine have opened the path to routine large-scale sequencing and increased the importance of genetic counseling for hereditary cancers, among which hereditary breast and ovary cancers (HBOC) have a major impact. High-throughput sequencing, or...

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Bibliographic Details
Main Authors: Giulia Federici, Silvia Soddu
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Journal of Experimental & Clinical Cancer Research
Subjects:
Next-generation sequencing
Germline and somatic mutations
Variant classification
Variants of uncertain significance
Functional tests
ATM gene
Online Access:http://link.springer.com/article/10.1186/s13046-020-01554-6

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http://link.springer.com/article/10.1186/s13046-020-01554-6

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