title: Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred.
authors.affiliation: Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, PA 19111, USA. amanda.prowse@obstetrics-gynaecology.oxford.ac.uk
authors.forename: A H
authors.initials: AH
authors.lastname: Prowse
authors.forename: D C
authors.initials: DC
authors.lastname: Schultz
authors.forename: S
authors.initials: S
authors.lastname: Guo
authors.forename: L
authors.initials: L
authors.lastname: Vanderveer
authors.forename: J
authors.initials: J
authors.lastname: Dangel
authors.forename: B
authors.initials: B
authors.lastname: Bove
authors.forename: P
authors.initials: P
authors.lastname: Cairns
authors.forename: M
authors.initials: M
authors.lastname: Daly
authors.forename: A K
authors.initials: AK
authors.lastname: Godwin
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D005260:Female; D005787:Gene Frequency; D019942:Genes, p16; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D009455:Neurofibroma / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*; D025803:Tumor Suppressor Protein p14ARF / Q000235:genetics* / Q000502:physiology
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D022821:RNA Splice Sites; D025803:Tumor Suppressor Protein p14ARF