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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Main Authors: Konstantinos Agiannitopoulos (Author), Eirini Papadopoulou (Author), Georgios N. Tsaousis (Author), Georgia Pepe (Author), Stavroula Kampouri (Author), Mehmet Ali Kocdor (Author), George Nasioulas (Author)
Format: Book
Published: BMC, 2019-07-01T00:00:00Z.
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