[5] Hu C, Hart SN, Gnanaolivu R, et al: A population-based study of genes previously implicated in breast cancer. N Engl J Med 384:440-451, 2021 [6] Yadav S, Couch FJ: Germline genetic testing for bre...
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer Genet, 209, 403-7.Leedom, T. P. et al. Breast cancer risk is similar for CHEK2 founder and non- founder mutation carriers. Cancer Genet. 209, 403-407 (2016)....
原文摘要: CHEK2*1100delC Heterozygosity in Women With Breast Cancer Associated With Early Death, Breast Cancer-Specific Death, and Increased Risk of a Second Breast Cancer. J Clin Oncol 2012 : Weischer M Nordestgaard BG Pharoah P Bolla MK Nevanlinna H Van't Veer LJ Garcia-Closas M Hopper...
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
细胞周期检测点激酶2(cell cycle checkpoint ki-nase2,CHEK2)是由抑癌基因CHEK2编码的丝氨酸/苏氨酸激酶,CHEK2激酶是DNA双链断裂损伤中重要的信号转导蛋白,参与细胞周期G1,S或G2/M期的阻滞,促进细胞对损伤进行修复.CHEK2基因发生突变后,其编码的激酶会丧失活性,无法修复DNA的损伤,受损伤的DNA不断复制,产生大量...
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 risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer Genet. 2016;209(9):403-407. doi:10.1016/j.cancergen.2016.08.005PubMedGoogle ScholarCrossref 12. Hu C, Hart SN, Gnanaolivu R, et al. A population-based study of genes previously ...
Background: Currently, data on pathogenic variants in the CHEK2 gene and their impact on cancer risk are lacking. This study aimed to explore the characteristics of breast cancer (BC) patients from families with CHEK2 pathogenic variants in Slovenia. Methods: In the years 2014 to 2019, CHEK2...
Risk for contralateral breast cancer among carriers of the CHEK2*1100delC mutation in the WECARE Study. Br J Cancer 2008;98:728-733.Mellemkjaer L, Dahl C, Olsen JH, Bertelsen L, Guldberg P, Christensen J, Børresen-Dale AL, Stovall M, Langholz B, Bernstein L, Lynch CF, Malone KE...
We tested the hypotheses that CHEK2*1100delC heterozygosity is associated with increased risk of early death, 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 wh...