Article
[Evaluation of variants of unknown significance in the BRCA2 gene].
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti - 1 Jan 2012
Heczková M, Macháčková E, Jirsa M, Spičák J, Foretová L, Hucl T
Abstract excerpt
BACKGROUND: Endogenous processes and exogenous agents cause constant DNA damage. DNA double-strand breaks are among the most serious types of damage. They are mainly repaired by homologous recombination, where the BRCA2 protein plays a dominant role. Heterozygous germline BRCA2 mutations predispose to breast, ovarian, pancreatic and other types of cancer. The presence of a pathogenic mutation in patients or their...
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