title: TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors.
abstract: The chromosome 17q23 region is frequently amplified in breast tumors. Gain of the region is present in 50% of BRCA1-associated breast tumors and 87% of BRCA2-associated breast tumors. The amplification frequency of the RPS6KB1 and TBX2 oncogenes from this amplicon was compared in 27 BRCA1 and BRCA2 mutant breast tumors, 15 breast tumors from high-risk patients with no BRCA1 or BRCA2 mutations, and 62 matched sporadic breast tumor controls. TBX2 was determined to be preferentially amplified and overexpressed in BRCA1 and BRCA2 mutant tumors, whereas RPS6KB1 was not, suggesting a role for TBX2 amplification in the development of BRCA1- and BRCA2-associated breast tumors.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA.
authors.forename: Colleen S
authors.initials: CS
authors.lastname: Sinclair
authors.forename: Camilo
authors.initials: C
authors.lastname: Adem
authors.forename: Ali
authors.initials: A
authors.lastname: Naderi
authors.forename: Cheryl L
authors.initials: CL
authors.lastname: Soderberg
authors.forename: Michele
authors.initials: M
authors.lastname: Johnson
authors.forename: Kangjian
authors.initials: K
authors.lastname: Wu
authors.forename: Linda
authors.initials: L
authors.lastname: Wadum
authors.forename: Vicki L
authors.initials: VL
authors.lastname: Couch
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Sellers
authors.forename: Daniel
authors.initials: D
authors.lastname: Schaid
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Slezak
authors.forename: Zach
authors.initials: Z
authors.lastname: Fredericksen
authors.forename: James N
authors.initials: JN
authors.lastname: Ingle
authors.forename: Lynn
authors.initials: L
authors.lastname: Hartmann
authors.forename: Robert B
authors.initials: RB
authors.lastname: Jenkins
authors.forename: Fergus J
authors.initials: FJ
authors.lastname: Couch
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D005784:Gene Amplification; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: C097348:T-Box Domain Protein 2; D020825:T-Box Domain Proteins