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

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 types of pa...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Agiannitopoulos, Konstantinos, Papadopoulou, Eirini, Tsaousis, Georgios N., Pepe, Georgia, Kampouri, Stavroula, Kocdor, Mehmet Ali, Nasioulas, George
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6660672/
https://ncbi.nlm.nih.gov/pubmed/31349801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0862-3
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