Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred.
Prowse
A H
AH
Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, PA 19111, USA. amanda.prowse@obstetrics-gynaecology.oxford.ac.uk
Schultz
D C
DC
Guo
S
S
Vanderveer
L
L
Dangel
J
J
Bove
B
B
Cairns
P
P
Daly
M
M
Godwin
A K
AK
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
D019313:BRCA1 Protein; D024682:BRCA2 Protein; D022821:RNA Splice Sites; D025803:Tumor Suppressor Protein p14ARF