title: A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.
abstract: Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression.
authors.affiliation: Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong. akwong@asiabreastregistry.com
authors.forename: Ava
authors.initials: A
authors.lastname: Kwong
authors.forename: Enders K O
authors.initials: EK
authors.lastname: Ng
authors.forename: Edmund Y H
authors.initials: EY
authors.lastname: Tang
authors.forename: Chris L P
authors.initials: CL
authors.lastname: Wong
authors.forename: Fian B F
authors.initials: FB
authors.lastname: Law
authors.forename: Candy P H
authors.initials: CP
authors.lastname: Leung
authors.forename: Aaron
authors.initials: A
authors.lastname: Chan
authors.forename: M T
authors.initials: MT
authors.lastname: Cheung
authors.forename: M Y
authors.initials: MY
authors.lastname: To
authors.forename: Edmond S K
authors.initials: ES
authors.lastname: Ma
authors.forename: Dee W
authors.initials: DW
authors.lastname: West
authors.forename: James M
authors.initials: JM
authors.lastname: Ford
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D009154:Mutation