Protein-truncating variations in the breast cancer susceptibility gene CHEK2 exhibit a moderately heightened risk of breast cancer. In contrast, the associated breast cancer risk for missense variants of uncertain significance (VUS) in CHEK2 often remains ambiguous. To aid in their classification, functional assays assessing the impact of missense VUS on CHK2 protein function have been conducted. This discussion delves into these functional analyses, consistently revealing a connection between impaired protein function and an increased risk of breast cancer. Overall, these findings imply that damaging CHEK2 missense VUS are linked to a breast cancer risk similar to that of protein-truncating variants. This underscores the importance of expanding the functional characterization of CHEK2 missense VUS to gain a deeper understanding of the associated cancer risk.
Protein-truncating variations in the breast cancer susceptibility gene CHEK2 exhibit a moderately heightened risk of breast cancer. In contrast, the associated breast cancer risk for missense variants of uncertain significance (VUS) in CHEK2 often remains ambiguous. To aid in their classification, functional assays assessing the impact of missense VUS on CHK2 protein function have been conducted. This discussion delves into these functional analyses, consistently revealing a connection between impaired protein function and an increased risk of breast cancer. Overall, these findings imply that damaging CHEK2 missense VUS are linked to a breast cancer risk similar to that of protein-truncating variants. This underscores the importance of expanding the functional characterization of CHEK2 missense VUS to gain a deeper understanding of the associated cancer risk.
| № | Муаллифнинг исми | Лавозими | Ташкилот номи |
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| 1 | Xudoyberdiyeva N.V. | Assistant teacher | “Medical faculty” of Alfraganus University |
| № | Ҳавола номи |
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