Ju Yan, Wang Lifeng, Ta Shengjun, Shu Rui, Yang Shanling, Gao Xican, Song Hongping, Liu Liwen
Department of Ultrasonic Medicine, Xijing Hospital, The Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Department of Biochemistry and Molecular Biology, The Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Oncol Lett. 2019 Sep;18(3):2885-2890. doi: 10.3892/ol.2019.10646. Epub 2019 Jul 22.
Previous studies have demonstrated that a family history of breast cancer is considered a risk factor, and hereditary factors may be involved in breast cancer pathogenesis. Next-generation sequencing techniques were used to analyze 111 cancer-associated genes in patients with breast cancer with a familial history of malignant tumors in the pre-experiment and a novel variant, () c.338G>A: p.R113Q was identified in two cases of breast cancer. is considered an important oncogene, and overexpression or mutation of the gene may lead to the occurrence or metastasis of tumors. To assess a potential association between rs185670819 and breast cancer, 117 patients with breast cancer and a familial history of any cancer, who were diagnosed by experienced pathologists at the Xijing Hospital (Shaanxi, China) between July 2015 and December 2016, were recruited. The presence of the missense variant was confirmed using bi-directional Sanger sequencing of samples from the patients with breast cancer and 250 healthy controls. The effects of the missense mutation on the structure and function of were analyzed . The missense variant, R113Q, in patients with breast cancer with a familial history of malignant tumors in China, was present in 8 patients [6.8% (95% CI: 3.21-13.45)] and 3 of 250 healthy controls [1.2% (95% CI: 0.31-3.76; OR=6.04, 95% CI: 1.573-23.214, P=0.009)]. Of the 8 patients with the R113Q variant, 6 patients had a family history of cancer of the digestive system. The present study suggests that c.338G>A: p.R113Q may be a potential risk factor in the development and progression of breast cancer.
先前的研究表明，乳腺癌家族史被视为一个风险因素，遗传因素可能参与乳腺癌的发病机制。在实验前，利用下一代测序技术对有恶性肿瘤家族史的乳腺癌患者的111个癌症相关基因进行分析，在两例乳腺癌病例中鉴定出一种新型变体（）c.338G>A:p.R113Q。被认为是一个重要的癌基因，该基因的过表达或突变可能导致肿瘤的发生或转移。为了评估rs185670819与乳腺癌之间的潜在关联，招募了117例有任何癌症家族史的乳腺癌患者，这些患者于2015年7月至2016年12月在中国陕西西京医院由经验丰富的病理学家诊断。通过对乳腺癌患者和250名健康对照者的样本进行双向桑格测序，确认了错义变体的存在。分析了错义突变对结构和功能的影响。在中国有恶性肿瘤家族史的乳腺癌患者中，错义变体R113Q存在于8例患者中[6.8%（95%CI：3.21-13.45）]，在250名健康对照者中有3例[1.2%（95%CI：0.31-3.76；OR=6.04，95%CI：1.573-23.214，P=0.009）]。在8例R113Q变体患者中，6例有消化系统癌症家族史。本研究表明，c.338G>A:p.R113Q可能是乳腺癌发生和发展的一个潜在风险因素。
