A germline alteration of ERBB2 increases the risk of breast cancer in Chinese Han women with a familial history of malignant tumors Corrigendum in /10.3892/ol.2019.10930

Ju,Yan; Wang,Lifeng; Ta,Shengjun; Shu,Rui; Yang,Shanling; Gao,Xican; Song,Hongping; Liu,Liwen

doi:10.3892/ol.2019.10646

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

Corrigendum in: /10.3892/ol.2019.10930

Authors:
- Yan Ju
- Lifeng Wang
- Shengjun Ta
- Rui Shu
- Shanling Yang
- Xican Gao
- Hongping Song
- Liwen Liu
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Affiliations: 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, Department of Ultrasound, Yan'an People's Hospital, Yan'an, Shaanxi 716000, P.R. China
Published online on: July 22, 2019 https://doi.org/10.3892/ol.2019.10646
Pages: 2885-2890
Copyright: © Ju et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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, receptor tyrosine‑protein kinase erbB‑2 (ERBB2) c.338G>A: p.R113Q was identified in two cases of breast cancer. ERBB2 is considered an important oncogene, and overexpression or mutation of the ERBB2 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 ERBB2 were analyzed in silico. 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 ERBB2 c.338G>A: p.R113Q may be a potential risk factor in the development and progression of breast cancer.

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