title: Identification of recurrent BRCA1 mutation and its clinical relevance in Chinese Triple-negative breast cancer cohort.
abstract: Triple-negative breast cancer (TNBC) accounts for 15-20% of all newly diagnosed breast cancers, and is enriched for germline mutation of BRCA. In Asian patients diagnosed with breast cancer, 268 deleterious mutations of BRCA1 and 242 of BRCA2 have been identified so far, including a reported BRCA1 frameshift mutation (rs80350973), apparently found only in Asian people, with a low prevalence of 0.3-1.7% in different breast cancer cohorts. Here, we reported the high prevalence (7.2%) of rs80350973 among 125 Chinese patients with TNBC, which implies its mutational predilection for certain breast cancer subtypes. Although its low prevalence had not indicated any particular clinical significance in previous studies, our results associated rs80350973 mutation with cell checkpoint malfunction, and was found to be more common in TNBC patients with high Ki-67 indices (P = 0.004). As Ki-67 overexpression is a predictor of poor prognosis in TNBC, inclusion of this mutation into genetic assessments may improve the clinical management of Chinese patients with TNBC.
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Xiaoran
authors.identifier: 0000-0003-0912-3210
authors.initials: X
authors.lastname: Liu
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Huiping
authors.initials: H
authors.lastname: Li
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Shao
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Jianmin
authors.initials: J
authors.lastname: Wu
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Weiyao
authors.initials: W
authors.lastname: Kong
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Guohong
authors.initials: G
authors.lastname: Song
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Hanfang
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of breast oncology, Peking University Cancer Hospital & Institute, Fucheng Road No.52, Haidian District, Beijing, 100142, China.
authors.forename: Fengling
authors.initials: F
authors.lastname: Wan
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D019313:BRCA1 Protein / Q000235:genetics*; D059447:Cell Cycle Checkpoints; D002681:China; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D059645:Mutation Rate; D020641:Polymorphism, Single Nucleotide; D064726:Triple Negative Breast Neoplasms / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human
keywords: BRCA; Chinese; breast cancer; epidemiology