Lubinski J, Narod SA. Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband. Br J Cancer. 2009 May 5;100(9):1508-12. doi: 10.1038/sj.bjc.6605038. PMID
Cancer RiskThyroid CancerSerum SeleniumBRCA1 CarrierCheckpoint kinase 2 (CHEK2) is as an important signal transducer of cellular responses to DNA damage and acts as a tumour suppressor gene. Mutations in the CHEK2 gene have been shown to be associated with increased risks to several cancers. In...
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【3】Germline PVs inCDH1have been associated with hereditary diffuse gastric cancer and invasive lobular carcinoma. However, the magnitude of invasive lobular carcinoma risk related to PVs inCDH1varies substantially between...
The 1100delC CHEK2 allele has been associated with a 1.4–4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1–1.4% in healthy Finnish controls, the frequency of this allele in a North Americ
Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2. Breast Cancer Res Treat 2010;119:409–414. Article CAS Google Scholar Smith A, Moran A, Boyd MC, et al. Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and ...
Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband. Br J Cancer. 2009;100:1508-1512.Gronwald et al. (2009): Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in ...
Other associations have been more variable, but CHEK2 mutations have been associated with increased risks of colon, prostate, and male breast cancer. Lung and laryngeal cancer are inversely associated in some studies, an intriguing and counterintuitive finding that awaits explanation.Robson M...
Hereditary cancer syndromesGenetic testingBreast cancerPurpose Although CHEK2 is a well-established cancer gene, questions remain including whether risks vary substantially between different variants and whether biallelic carriers have higher risks than heterozygotes. We report on a cohort of individuals ...
CHEK2mutations are associated with increased cancer risks, including breast; however, published risk estimates are limited to those conferred byCHEK2founder mutations, presenting uncertainty in risk assessment for carriers of otherCHEK2mutations. This study aimed to assess phenotypes and molecular ...