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

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....

Source: BMC Medical Genetics - July 26, 2019 Category: Genetics & Stem Cells Authors: Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor and George Nasioulas Tags: Case report Source Type: research