title: Breast cancer risk and the BRCA1 interacting protein CTIP.
abstract: Mutations in BRCA1 predispose to breast cancer. CTIP interacts with BRCA1 and so could also be associated with increased risk. We screened CTIP for germline mutations in 210 probands of breast cancer families including 129 families with no mutations in BRCA1 or BRCA2. No coding variants were detected in CTIP, therefore, it is unlikely to be involved in breast cancer risk.
authors: VBCRC Cancer Research Laboratory, Peter MacCallum Cancer Centre, East Melbourne, VIC, Australia.
authors: Kylie L
authors: KL
authors: Gorringe
authors: David Y H
authors: DY
authors: Choong
authors: Geoffrey J
authors: GJ
authors: Lindeman
authors: Jane E
authors: JE
authors: Visvader
authors: Ian G
authors: IG
authors: Campbell
mesh_terms: D001315:Australia; D019313:BRCA1 Protein / Q000235:genetics* / Q000502:physiology*; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology*; D004252:DNA Mutational Analysis; D004706:Endodeoxyribonucleases; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods; D018895:Microsatellite Repeats; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology*; D012306:Risk
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D004706:Endodeoxyribonucleases; C410741:RBBP8 protein, human