A germline alteration of ERBB2 increases the risk of breast cancer in Chinese Han women with a familial history of malignant tumors

• Published in: Experimental and therapeutic medicine 2019-09, Vol.18 (3), p.2885-2890
• Main Authors: Ju, Yan, Wang, Lifeng, Ta, Shengjun, Shu, Rui, Yang, Shanling, Gao, Xican, Song, Hongping, Liu, Liwen
• Format: Article
• Language: English
• Subjects: Breast cancer; Cancer genetics; Cancer metastasis; Cancer patients; Cancer research; Chinese history; Development and progression; DNA sequencing; EDTA; Family medical history; Genes; Genetic aspects; Health risk assessment; Kinases; Mutation; Novels; Oncology; Phenols (Class of compounds); Protein kinases; Questions and answers; Risk factors; Tumors; Tyrosine
• ISSN: 1792-1074; 1792-0981; 1792-1082
• DOI: 10.3892/ol.2019.10646

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.