PMID- 10620127
OWN - NLM
STAT- MEDLINE
DCOM- 20000309
LR  - 20171116
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 114
IP  - 1
DP  - 2000 Jan
TI  - Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma
      arising from a burn scar.
PG  - 122-6
AB  - Fas (Apo-1/CD95) is a cell-surface receptor involved in cell death signaling, and
      recent reports have suggested that defects within the Fas receptor pathway such
      as Fas mutation play an important part in the development and progression of
      human tumors. Burn scar-related squamous cell carcinoma of skin is a unique
      subtype of cutaneous squamous cell carcinoma, and tends to be more aggressive in 
      nature than conventional squamous cell carcinoma. The molecular mechanisms
      underlying the development and progression of burn scar-related squamous cell
      carcinoma, however, are not clear. In this study, we analyzed the entire coding
      region and all splice sites of the Fas gene for the detection of the somatic
      mutations in a series of 50 conventional squamous cell carcinomas and 21 burn
      scar-related squamous cell carcinomas by polymerase chain reaction, single strand
      conformation polymorphism, and DNA sequencing. We detected mis-sense mutations in
      three of 21 burn scar-related squamous cell carcinomas (14.3%), whereas no
      mutation was detected in 50 conventional squamous cell carcinomas. Of the three
      Fas mutations detected in the burn scar-related squamous cell carcinomas, one was
      found in Fas ligand-binding domain, another one was identified in the death
      domain known to be involved in the transduction of an apoptotic signal, and the
      other one was found in the transmembrane domain. Our data show that some burn
      scar-related squamous cell carcinomas have Fas gene mutations in important
      regions for the apoptosis function and suggest that these mutations might be
      involved in the pathogenesis of burn scar-related squamous cell carcinomas. In
      addition, our results provide an important clue to understanding the difference
      between burn scar-related squamous cell carcinoma and conventional squamous cell 
      carcinoma at the molecular level.
FAU - Lee, S H
AU  - Lee SH
AD  - Department of Pathology, College of Medicine, The Catholic University of Korea,
      Seoul.
FAU - Shin, M S
AU  - Shin MS
FAU - Kim, H S
AU  - Kim HS
FAU - Park, W S
AU  - Park WS
FAU - Kim, S Y
AU  - Kim SY
FAU - Jang, J J
AU  - Jang JJ
FAU - Rhim, K J
AU  - Rhim KJ
FAU - Jang, J
AU  - Jang J
FAU - Lee, H K
AU  - Lee HK
FAU - Park, J Y
AU  - Park JY
FAU - Oh, R R
AU  - Oh RR
FAU - Han, S Y
AU  - Han SY
FAU - Lee, J H
AU  - Lee JH
FAU - Lee, J Y
AU  - Lee JY
FAU - Yoo, N J
AU  - Yoo NJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 0 (fas Receptor)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Base Sequence/genetics
MH  - Burns/*complications
MH  - Carcinoma, Squamous Cell/etiology/*genetics/metabolism/pathology
MH  - Child
MH  - Child, Preschool
MH  - Cicatrix/*complications
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation/genetics
MH  - Skin Neoplasms/etiology/*genetics/metabolism/pathology
MH  - fas Receptor/*genetics/metabolism
EDAT- 2000/01/05 09:00
MHDA- 2000/03/11 09:00
CRDT- 2000/01/05 09:00
PHST- 2000/01/05 09:00 [pubmed]
PHST- 2000/03/11 09:00 [medline]
PHST- 2000/01/05 09:00 [entrez]
AID - S0022-202X(15)40742-0 [pii]
AID - 10.1046/j.1523-1747.2000.00819.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 2000 Jan;114(1):122-6. doi: 10.1046/j.1523-1747.2000.00819.x.