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Oncol Lett. 2018 Sep;16(3):3913-3916. doi: 10.3892/ol.2018.9139. Epub 2018 Jul 12.

Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.

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BGI Genomics, BGI-Shenzhen, Shenzhen, Guangdong 518083, P.R. China.
Department of Internal Medicine, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, P.R. China.
Department of Obstetrics and Gynecology, Jiangmen Central Hospital, Affiliated Jiangmen Hospital of Sun Yat-Sen University, Jiangmen, Guangdong 529030, P.R. China.


Hereditary breast cancer is an autosomal dominant syndrome caused by germ-line mutations in the human breast cancer genes, BRCA1 and BRCA2. Mutations in either BRCA1 or BRCA2 are the major causes of familial and early-onset breast cancer. The present study investigated a 33-year-old Chinese female patient with breast cancer using targeted next generation sequencing. A novel heterozygous deletion-insertion was also identified in the BRCA1 gene, c.311_312delinsAGGTTTGCA, which causes the formation of a truncated BRCA1 protein of 109 amino acids instead of a wild-type BRCA1 protein of 1,863 amino acids. These results could potentially expand the mutational spectra of BRCA1-associated breast cancer. In addition, these findings may be valuable for the mutation-based screening and genetic diagnosis of breast cancer.


deletion; hereditary breast cancer; heterozygous; novel mutation; targeted next generation sequencing

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