Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay

Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay

Abstract Next-generation sequencing of Sri Lankan families with inherited cancer syndromes resulted in the identification of five BRCA2 variants of unknown clinical significance. Interpreting such variants poses significant challenges for both clinicians and patients. Using a mouse embryonic stem ce...

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Bibliographic Details
Main Authors: Nirmala Sirisena, Kajal Biswas, Teresa Sullivan, Stacey Stauffer, Linda Cleveland, Eileen Southon, Vajira H. W. Dissanayake, Shyam K. Sharan
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Breast Cancer Research
Subjects:
BRCA2
Classification
Functional assay
Inherited cancer
Next-generation sequencing
Variants of unknown clinical significance (VUS)
Online Access:http://link.springer.com/article/10.1186/s13058-020-01272-z

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http://link.springer.com/article/10.1186/s13058-020-01272-z

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