[10] Ali M , Delozier C D , Chaudhary U .BRIP-1 germline mutation and its role in colon cancer: Presentation of two case reports and review of literature[J].BMC Medical Genetics, 2019, 20(1).DOI:10.1186/s12881-019-0812-0. [11] Uson PLS Jr, Riegert-Johnson D, Boardman L, Kisie...
ski [1] Mutations in the CHEK2 gene confer an approximately two-fold increase in the risk of cancer in many organs including the breast, colon, kidney, prostate and thyroid. In addition, we have recently identified a positive association of similar magnitude between a CHEK2 mutation and ...
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Cancer Res. 2001;61(22):8062-8067.PubMedGoogle Scholar 8. National Comprehensive Cancer Network (NCCN). Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2022. Accessed February...
in HCC with TP53 mutation. We then selected Nultin-3, which has been investigated as a potential therapeutic agent specifically targeting TP53-mutated cancer cells [16]. Furthermore, we further supplemented with 10 μM Nultin-3 in the previous knockout of CHEK2 HCC cell lines (LM3, Huh...
Consequently, in agreement with it has been recently proposed, the combined screening of BRCA1, BRCA2 and TP53 should be offered to high-risk as well as early-onset breast cancer patients from Brazil.44,49 Interestingly, in this study we did not observe the BRCA1 mutation that is the most...
These conversations and recommendations regarding testing and cancer screening for CHEK2 alterations will likely continue to evolve over time as we better understand their contribution to adult and pediatric cancers. 5. Conclusions CHEK2 germline pathogenic alterations can be seen in a variety of ...