However, for gene mutations that confer amoderate risk of developing cancer, clinical management guidelines are lacking,and it is unknown whether identifying mutations in these non-highly-penetrantgenes will lead to improved patient outcomes or to overtreatment and harm.Policy Numb...
Gurudu S, Singh H, Klint M, Kunze KL, Golafshar MA, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab TS, Jewel Samadder N. Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma
[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 ...
All individuals gave the informed consent prior genetic testing. We screened the fragment ofCHEK2 gene coding for FHA domain by the DHPLC (Fig. The complete screening of CHEK2 genein cancer patients is limited to several studies that, with some exceptions [21, 25] were Breast cancerCHEK...
【1】The largest study involving multigene panel testing of women with invasive lobular carcinoma describes the frequency of germline pathogenic variants (PVs) in invasive lobular carcinoma and the differences in gene-spec...
The frame-shift mutation 1100delC in the cell-cycle-checkpoint kinase 2 gene ( CHEK2 ) has been reported to be a low penetrance breast cancer gene in Northern European populations. However, the variant may be relevant for breast cancer risk in other populations, due to its low prevalence. ...
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing. Sci Rep. 2019;9(1):18555. doi:10.1038/s41598-019-54517-zPubMedGoogle ScholarCrossref 39. Kurian AW, Ward KC, Howlader N, et al. Genetic testing and ...
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
The proliferation of gene panel testing precipitates the need for a breast cancer (BC) risk model that incorporates the effects of mutations in several genes and family history (FH). We extended the BOADICEA model to incorporate the effects of truncating variants in PALB2, CHEK2, and ATM. Me...
关键词: CHEK2 Cowden-like syndrome Early-onset breast cancer Gene panel testing Li-Fraumeni-like syndrome RNA splicing mutations DOI: 10.1007/s10689-017-0011-0 被引量: 4 年份: 2017 收藏 引用 批量引用 报错 分享 全部来源 免费下载 求助全文 全文购买 Springer 国家科技图书文献中心 (权威机构) ...