title: The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified.
abstract: To have an overview of the role of BRCA1 and BRCA2 genes among Chinese high-risk breast cancer patients, we analyzed 489 such high-risk breast cancer patients from four breast disease clinical centers in China, by using PCR-DHPLC or SSCP-DNA sequencing analysis. Allelotype analysis was done at five short tandem repeat (STR) markers in or adjacent to BRCA1 on the recurrent mutation carriers. For those analyzed both genes, 8.7% of early-onset breast cancer cases and 12.9% of familial breast cancer cases had a BRCA1 or BRCA2 mutation, as compared with the 26.1% of cases with both early-onset breast cancer and affected relatives. For those reporting malignancy family history other than breast/ovarian cancer, the prevalence of BRCA1/2 mutation is about 20.5%, and it was significantly higher than the patients only with family history of breast/ovarian cancer (P = 0.02). The family history of ovarian cancer (26.7% vs. 11.9%) and stomach cancer (23.8% vs. 11.8%) doubled the incidence of BRCA1/2, but the difference did not reach the statistical significance. Two recurrent mutations in BRCA1, 1100delAT and 5589del8, were identified. The recurrent mutations account for 34.8% BRCA1 mutations in our series. Similar allelotypes were detected in most STR status for those harboring the same mutations. The BRCA1 associated tumors were more likely to exhibit a high tumor grade, negative C-erbB-2/neu status and triple negative (ER, PgR and C-erbB-2/neu negative) status (P < 0.05). We recommended the BRCA1 and BRCA2 genetic analysis could be done for high-risk breast cancer patient in Chinese population, especially for those with both early-onset breast cancer and affected relatives. There may be some degree of shared ancestry for the two recurrent BRCA1 mutations in Chinese.
authors.affiliation: Department of Oncology, Breast Cancer Institute, Cancer Hospital/Cancer Institute, Institutes of Biomedical Science, Shanghai Medical College, Fudan University, 270 Dong'an Road, Shanghai 200032, PR China.
authors.forename: Wen-Feng
authors.initials: WF
authors.lastname: Li
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hu
authors.forename: Nan-Yan
authors.initials: NY
authors.lastname: Rao
authors.forename: Chuang-Gui
authors.initials: CG
authors.lastname: Song
authors.forename: Bin
authors.initials: B
authors.lastname: Zhang
authors.forename: Ming-Zhi
authors.initials: MZ
authors.lastname: Cao
authors.forename: Feng-Xi
authors.initials: FX
authors.lastname: Su
authors.forename: Yong-Sheng
authors.initials: YS
authors.lastname: Wang
authors.forename: Ping-Qing
authors.initials: PQ
authors.lastname: He
authors.forename: Gen-Hong
authors.initials: GH
authors.lastname: Di
authors.forename: Kun-Wei
authors.initials: KW
authors.lastname: Shen
authors.forename: Jiong
authors.initials: J
authors.lastname: Wu
authors.forename: Jin-Song
authors.initials: JS
authors.lastname: Lu
authors.forename: Jian-Min
authors.initials: JM
authors.lastname: Luo
authors.forename: Xiao-Yi
authors.initials: XY
authors.lastname: Liu
authors.forename: Jie
authors.initials: J
authors.lastname: Zhou
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Lin
authors.initials: L
authors.lastname: Zhao
authors.forename: Yan-Bing
authors.initials: YB
authors.lastname: Liu
authors.forename: Wen-Tao
authors.initials: WT
authors.lastname: Yuan
authors.forename: Lin
authors.initials: L
authors.lastname: Yang
authors.forename: Zhen-Zhou
authors.initials: ZZ
authors.lastname: Shen
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Zhi-Ming
authors.initials: ZM
authors.lastname: Shao
mesh_terms: D000483:Alleles; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D002681:China / Q000208:ethnology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D012008:Recurrence