PMID- 10511595
OWN - NLM
STAT- MEDLINE
DCOM- 19991028
LR  - 20190513
IS  - 0027-8874 (Print)
IS  - 0027-8874 (Linking)
VI  - 91
IP  - 19
DP  - 1999 Oct 6
TI  - Human leukocyte antigen class I gene mutations in cervical cancer.
PG  - 1669-77
AB  - BACKGROUND: Various mechanisms contribute to the loss of human leukocyte antigen 
      (HLA) class I expression that is frequently observed in cancers. Although some 
      single allele losses have been ascribed to mutations in HLA class I genes, direct 
      evidence for this phenomenon in vivo is still lacking. Thus, we investigated 
      whether HLA class I gene mutations could account for the loss of allele-specific 
      expression in cervical carcinomas. METHODS: We used polymerase chain 
      reaction-based techniques, including sequencing, oligonucleotide hybridization, 
      and microsatellite analysis, to identify HLA class I gene defects in two 
      tumor-derived cell lines and to confirm the presence of these defects in the 
      original tumors. RESULTS: In one tumor, in exon 2 of the HLA-B15 gene, a 
      four-nucleotide insertion resulted in a stop codon in exon 3. In the other tumor, 
      in two duplicated copies of the HLA-A24 gene, single-point mutations resulted in 
      stop codons in exons 2 and 5. CONCLUSIONS: To our knowledge, this is the first 
      report of HLA class I gene mutations identified in primary tumors that lead to 
      loss of allelic expression in tumor cells. Such tumor-specific mutations may 
      permit the cell to escape HLA class I-restricted cytotoxic T-cell responses.
FAU - Koopman, L A
AU  - Koopman LA
AD  - Department of Pathology , Leiden University Medical Center, The Netherlands. 
      L.A.Koopman@pathology.medfac.leidenuniv.nl
FAU - van Der Slik, A R
AU  - van Der Slik AR
FAU - Giphart, M J
AU  - Giphart MJ
FAU - Fleuren, G J
AU  - Fleuren GJ
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Natl Cancer Inst
JT  - Journal of the National Cancer Institute
JID - 7503089
RN  - 0 (DNA Primers)
SB  - IM
MH  - Chromosomes, Human, Pair 6/genetics
MH  - DNA Primers
MH  - Female
MH  - Genes, MHC Class I/*genetics
MH  - Genotype
MH  - Humans
MH  - *Mutation
MH  - Phenotype
MH  - Polymerase Chain Reaction/methods
MH  - Tumor Cells, Cultured
MH  - Uterine Cervical Neoplasms/*genetics
EDAT- 1999/10/08 00:00
MHDA- 1999/10/08 00:01
CRDT- 1999/10/08 00:00
PHST- 1999/10/08 00:00 [pubmed]
PHST- 1999/10/08 00:01 [medline]
PHST- 1999/10/08 00:00 [entrez]
AID - 10.1093/jnci/91.19.1669 [doi]
PST - ppublish
SO  - J Natl Cancer Inst. 1999 Oct 6;91(19):1669-77. doi: 10.1093/jnci/91.19.1669.