Choi Doo Ho, Cho Dae Yeon, Lee Min Hyuk, Park Hee Sook, Ahn Sei Hyun, Son Byung Ho, Haffty Bruce G
Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Kangnam-Gu, Seoul, South Korea.
Breast Cancer Res Treat. 2008 Dec;112(3):569-73. doi: 10.1007/s10549-007-9878-z. Epub 2008 Jan 3.
The germline CHEK2 1100delC mutation is a low penetrance breast cancer susceptibility allele, frequently observed in patient with family history of breast cancer and/or young age and the frequency varied according to race or ethnicity. In this study, we evaluated the significance of CHEK2 1100delC in predisposition to breast cancer by assessing its frequency in a material of 493 Korean breast cancer patients who had been screened for BRCA1 and BRCA2 mutations (42 patients had deleterious mutation of BRCA1/2). Mutation detection of CHEK2 1100delC was based upon analysis of primer extension products generated for previously amplified genomic DNA using a chip based MALDI-TOP mass spectrometry platform. After overall measurement automatically, assays which had bad peaks were checked again manually. None of the 493 Korean patients with breast cancer who were candidate for BRCA1 and BRCA2 test carried the 1100delC mutation observed in Caucasians with limited frequency. In the previous studies, we observed higher or comparable prevalence of BRCA1 and BRCA2 mutations in Korean patients with breast cancer compared to Caucasian breast cancer population. In the present study, we evaluated the role of a CHEK2 1100delC as a susceptibility mutation of breast cancer in the Korean population. However, our results suggest that this mutation is absent or may be very infrequent in Korean patients with breast cancer who have high risk of BRCA1 and BRCA2 mutation, making its screening irrelevant from the practical point view.
种系CHEK2 1100delC突变是一种低外显率的乳腺癌易感等位基因，常见于有乳腺癌家族史和/或年轻的患者中，其频率因种族或民族而异。在本研究中，我们通过评估CHEK2 1100delC在493名接受过BRCA1和BRCA2突变筛查的韩国乳腺癌患者（42名患者有BRCA1/2有害突变）中的频率，来评估其在乳腺癌易感性中的意义。CHEK2 1100delC的突变检测基于使用基于芯片的基质辅助激光解吸电离飞行时间质谱平台对先前扩增的基因组DNA产生的引物延伸产物进行分析。在自动进行整体测量后，对峰形不佳的检测进行手动复查。在493名接受BRCA1和BRCA2检测的韩国乳腺癌患者中，没有人携带在白种人中观察到的频率有限的1100delC突变。在先前的研究中，我们观察到韩国乳腺癌患者中BRCA1和BRCA2突变的患病率高于或与白种人乳腺癌人群相当。在本研究中，我们评估了CHEK2 1100delC作为韩国人群乳腺癌易感突变的作用。然而，我们的结果表明，在有BRCA1和BRCA2突变高风险的韩国乳腺癌患者中，这种突变不存在或可能非常罕见，从实际角度来看，对其进行筛查并无意义。
