title: BRCA1 mutations and luminal-basal transformation.
abstract: The multifunctional roles of BRCA1 include its ability to regulate transcriptional processes that control differentiation at multiple levels, as well as functioning as a tumor suppressor. Data herein demonstrate that germline mutations in Brca1 impair luminal cell lineage and mammary development, with its deficiency converting ER-positive luminal tumors into basal-like cancers. Heterozygous mutations in Brca1 lead to downregulation of a number of luminal differentiation genes, explaining how it suppresses basal-like tumors, also highlighting its importance outside of its known highly publicized role in DNA repair.
authors.affiliation: Richard Dimbleby Department of Cancer Research, Randall Division and Division of Cancer Studies, Kings College London, Guy's Medical School Campus, London, UK.
authors.forename: T
authors.initials: T
authors.lastname: Ng
authors.forename: S
authors.initials: S
authors.lastname: Irshad
authors.forename: J
authors.initials: J
authors.lastname: Stebbing
mesh_terms: D000818:Animals; D002471:Cell Transformation, Neoplastic; D050763:Cyclin-Dependent Kinase Inhibitor p18 / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D015674:Mammary Neoplasms, Animal / Q000235:genetics*; D018295:Neoplasms, Basal Cell / Q000235:genetics*
chemical_list: C493972:Cdkn2c protein, mouse; D050763:Cyclin-Dependent Kinase Inhibitor p18