title: Thymic lymphomas in mice with a truncating mutation in Brca2.
abstract: Inherited mutations in the BRCA2 gene predispose women to breast and ovarian cancer. We created a mutation in the mouse Brca2 gene that terminates translation in exon 11 at 45% of the normal transcript length. Ninety % of Brca2(tm1Cam) homozygous mutant mice die prenatally or perinatally. The location of the Brca2(tm1Cam) mutation differs from those reported previously, and this phenotype suggests a correlation with genotype analogous to that previously reported in humans. Although heterozygote mice have remained free of tumors for 10 months, Brca2(tm1Cam) homozygous mutants that survived to adulthood died with thymic lymphomas between 12 and 14 weeks of age.
authors.affiliation: Cancer Research Campaign, Human Cancer Genetics Research Group, Cambridge University, Addenbrooke's Hospital, United Kingdom.
authors.forename: L S
authors.initials: LS
authors.lastname: Friedman
authors.forename: F C
authors.initials: FC
authors.lastname: Thistlethwaite
authors.forename: K J
authors.initials: KJ
authors.lastname: Patel
authors.forename: V P
authors.initials: VP
authors.lastname: Yu
authors.forename: H
authors.initials: H
authors.lastname: Lee
authors.forename: A R
authors.initials: AR
authors.lastname: Venkitaraman
authors.forename: K J
authors.initials: KJ
authors.lastname: Abel
authors.forename: M B
authors.initials: MB
authors.lastname: Carlton
authors.forename: S M
authors.initials: SM
authors.lastname: Hunter
authors.forename: W H
authors.initials: WH
authors.lastname: Colledge
authors.forename: M J
authors.initials: MJ
authors.lastname: Evans
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
mesh_terms: D000483:Alleles; D000818:Animals; D024682:BRCA2 Protein; D005091:Exons; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008223:Lymphoma / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics* / Q000502:physiology; D010641:Phenotype; D013950:Thymus Gland / Q000502:physiology*; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors