[6] Yadav S, Couch FJ: Germline genetic testing for breast cancer risk: The past, present, and future. Am Soc Clin Oncol Ed Book 39:61-74, 2019 [7] Palmer JR, Polley EC, Hu C, et al: Contribution of ...
A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We used cases ascertained from the United States through Gy-necologic Oncology ...
Castellví-Bel S, Caldés T. BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X. Cancer Prev Res (Phila). 2021 Feb;14(2):185-194. doi: 10.1158/1940-6207.CAPR-20-0316. Epub 2020 Oct 28. PMID
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
Specifically, mutations in the CHEK2 gene can result in the loss or impairment of protein function, affecting DNA repair and cell cycle regulation mechanisms, thereby increasing the individual’s risk of developing cancer [13]. For instance, one of the common CHEK2 mutations associated with ...
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 the CHEK2*1100delC mutation carrier status increases the risk for asynchronous contralateral breast ...
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 the CHEK2*1100delC mutation carrier status increases the risk for asynchronous contralateral breast ...
CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis. Int J Clin Exp Med. 2015;8(9):15708-15715.PubMedGoogle Scholar 20. Cybulski C, Górski B, Huzarski T, et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. ...
panel testing is appropriate for women with invasive lobular carcinoma and to identify women at risk of invasive lobular carcinoma because PVs in several genes predispose to this form of breast cancer. Predisposing PVs ...
breast cancer-specific death, and risk of a second breast cancer in women with a first breast cancer.From 22 studies participating in the Breast Cancer Association Consortium, 25,571 white women with invasive breast cancer were genotyped for CHEK2*1100delC and observed for up to 20 years (med...