Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report

Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report

Abstract Background CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in individuals who carry a single pathogenic CHEK2 variant. As for other genes involved in cancer predisposition, different typ...

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Bibliographic Details
Main Authors: Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor, George Nasioulas
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
CHEK2
Splicing variant
Next generation sequencing
RNA analysis
Online Access:http://link.springer.com/article/10.1186/s12881-019-0862-3

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http://link.springer.com/article/10.1186/s12881-019-0862-3

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