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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.

Author information

1
BGI Genomics, BGI-Shenzhen, Shenzhen, Guangdong 518083, P.R. China.
2
Department of Internal Medicine, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, P.R. China.
3
Department of Obstetrics and Gynecology, Jiangmen Central Hospital, Affiliated Jiangmen Hospital of Sun Yat-Sen University, Jiangmen, Guangdong 529030, P.R. China.

Abstract

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.

KEYWORDS:

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

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