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Biallelic disruption of the PTCH1 gene in multiple basal cell carcinomas in Japanese patients with nevoid basal cell carcinoma syndrome.

Abstract The aim of the present study is to address whether the molecular pathogenesis is identical among multiple basal cell carcinomas (BCCs) present in the same nevoid basal cell carcinoma syndrome (NBCCS) patient. Patient 1 is a 61-year-old (yo) Japanese female whose clinical characteristics and findings of a genetic analysis of PTCH1 have been previously described. Patient 2 is patient 1's 64-yo sister who also suffered from NBCCS with a single base deletion at nucleotide 2613 in exon 16 (c.2613delC) in one PTCH1 allele. Thirteen and 3 independent specimens of BCC were applied for a molecular analysis of loss of heterozygosity (LOH) in PTCH1 in patients 1 and 2, respectively. Of particular note is that all BCC specimens examined showed a loss of the wild-type allele of exon 16 in PTCH1, thus indicating that LOH results in the biallelic disruption of PTCH1 in multiple BCCs that develop in an age- and location-independent manner in the same patient. These results indicate that the germline single base deletion of PTCH1 (c.2613 delC) is a first hit and the LOH of the wild-type allele is a second hit, implying that all 16 BCCs detected in these NBCCS sisters fit the standard two-hit model.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title acta medica okayama
Publication Year Start




PMID- 24942795
OWN - NLM
STAT- MEDLINE
DCOM- 20150918
LR  - 20170707
IS  - 0386-300X (Print)
IS  - 0386-300X (Linking)
VI  - 68
IP  - 3
DP  - 2014
TI  - Biallelic disruption of the PTCH1 gene in multiple basal cell carcinomas in
      Japanese patients with nevoid basal cell carcinoma syndrome.
PG  - 163-70
AB  - The aim of the present study is to address whether the molecular pathogenesis is 
      identical among multiple basal cell carcinomas (BCCs) present in the same nevoid 
      basal cell carcinoma syndrome (NBCCS) patient. Patient 1 is a 61-year-old (yo)
      Japanese female whose clinical characteristics and findings of a genetic analysis
      of PTCH1 have been previously described. Patient 2 is patient 1's 64-yo sister
      who also suffered from NBCCS with a single base deletion at nucleotide 2613 in
      exon 16 (c.2613delC) in one PTCH1 allele. Thirteen and 3 independent specimens of
      BCC were applied for a molecular analysis of loss of heterozygosity (LOH) in
      PTCH1 in patients 1 and 2, respectively. Of particular note is that all BCC
      specimens examined showed a loss of the wild-type allele of exon 16 in PTCH1,
      thus indicating that LOH results in the biallelic disruption of PTCH1 in multiple
      BCCs that develop in an age- and location-independent manner in the same patient.
      These results indicate that the germline single base deletion of PTCH1 (c.2613
      delC) is a first hit and the LOH of the wild-type allele is a second hit,
      implying that all 16 BCCs detected in these NBCCS sisters fit the standard
      two-hit model.
FAU - Tate, Genshu
AU  - Tate G
AD  - Department of Pathology, Showa University Fujigaoka Hospital, Yokohama 227-8501, 
      [email protected]
FAU - Kishimoto, Koji
AU  - Kishimoto K
FAU - Mitsuya, Toshiyuki
AU  - Mitsuya T
LA  - eng
PT  - Journal Article
PL  - Japan
TA  - Acta Med Okayama
JT  - Acta medica Okayama
JID - 0417611
RN  - 0 (PTCH protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Receptors, Cell Surface)
RN  - Basal cell carcinoma, multiple
SB  - IM
MH  - Asian Continental Ancestry Group/genetics
MH  - Basal Cell Nevus Syndrome/*genetics
MH  - Carcinoma, Basal Cell/*genetics
MH  - Female
MH  - Hamartoma Syndrome, Multiple/*genetics
MH  - Humans
MH  - Japan
MH  - Loss of Heterozygosity
MH  - Middle Aged
MH  - Mutation
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Receptors, Cell Surface/*genetics
MH  - Skin Neoplasms/*genetics
EDAT- 2014/06/20 06:00
MHDA- 2015/09/19 06:00
CRDT- 2014/06/20 06:00
PHST- 2014/06/20 06:00 [entrez]
PHST- 2014/06/20 06:00 [pubmed]
PHST- 2015/09/19 06:00 [medline]
AID - 10.18926/AMO/52657 [doi]
PST - ppublish
SO  - Acta Med Okayama. 2014;68(3):163-70. doi: 10.18926/AMO/52657.