WebMay 8, 2024 · This has enabled us to find a subset of patients with pathogenic mutations in genes associated with moderate risk of breast cancer (such as ATM, CHEK2, ... = 0.48) compared to non-carriers. On the other hand, Broeks et al. reported a significant higher risk of contralateral breast cancer in patients with CHEK2*1100delC mutation, ... WebDec 1, 2024 · 2024年两项大样本病例对照研究分析了欧美人群总计超过近18万例的乳腺癌易感基因突变数据显示,BRCA1和BRCA2的致病胚系突变增加至少5倍以上的乳腺癌发病风险,TP53和PALB2的致病突变增加3-5倍的乳腺癌发病风险;而ATM、CHEK2、BARD1、RAD51C、RAD51D等是中低度外显率的 ...
Carriers of CHEK2 Mutations Have a 2-Fold Increased …
WebFeb 5, 2008 · The protein encoded by the CHEK2 gene is involved in cellular repair of DNA damage. The truncating mutation, CHEK2*1100delC, seems to increase the risk for breast cancer. We investigated whether ... WebMar 13, 2024 · Methods: We evaluated the contribution of germline mutations in the DDRP genes BRCA1, BRCA2, CHEK2 and ATM to the risk of radiation-induced contralateral breast cancer (CBC). fachsprache po
Human Gene CHEK2 (uc003adv.1) - genome.ucsc.edu
WebBackground: The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of breast cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. Materials and methods: We systematically searched PubMed, Embase, Elsevier and Springer for relevant … WebOct 21, 2024 · Contralateral breast cancer (CBC) is the most common second primary cancer among women diagnosed with first primary invasive breast cancer (BC) [].CBC accounts for approximately 40–50% of all new secondary cancers in women with first primary invasive BC and has a potentially less favorable prognosis [2,3,4,5,6].Worries … WebINTRODUCTION — This monograph summarizes the interpretation of germline testing of the CHEK2 gene. It does not discuss indications for testing and is not intended to replace clinical judgment in the decision to test or in the clinical care of the individual who was tested. These subjects are discussed separately [].OVERVIEW. How to read the report … fachsprache service