Description:
BASAL CELL NEVUS SYNDROME; BCNS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Heritable Cancer Syndromes and other Cancers |
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
2.32 |
| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| REPAIR OF UV- OR X RAY-IRRADIATED DNA OR ALKYLATED DNA |
Nagasawa et al (Teratogen Carcinogen Mutagen 8:25-33,1988) examined the changes in cell survival, unscheduled DNA synthesis (UDS) and the frequency of sister chromatid exchanges (SCE) induced by ultraviolet light in confluent normal and Basal Cell Nevus Syndrome (BCNS) fibroblasts. This BCNS culture appeared slightly hypersensitive to the cytotoxic effects of ultraviolet light. The rate of UDS induced by ultraviolet light exposure in normal cell strains increased linearly with increasing doses up to a saturating dose, wheras in BCNS cells UDS became saturated at one-third the saturating dose for normal cell strains. UDS activity persisted for longer periods after ultraviolet light exposure in BCNS as compared to normal cells. The dose-response relationship for ultraviolet light-induced SCE was similar in normal and BCNS fibroblasts. However, the frequencies of ultraviolet light induced SCE declined to near background levels in normal cells following 12-24 hr of confluent holding prior to subculture whereas they remained elevated in BCNS cells with holding times up to 24 hr after ultraviolet light exposure. These results suggest that BCNS fibroblasts may have a diminished capacity for the repair of some type of DNA damage as compared with normal fibroblasts. |
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| Remarks |
See GM01576 Lymphoid; clinically affected; fibroblasts are hypersensitive to cell killing by ionizing radiation |
| Haylett AK, Ward TH, Moore JV, DNA damage and repair in Gorlin syndrome and normal fibroblasts after aminolevulinic acid photodynamic therapy: a comet assay study. Photochem Photobiol78(4):337-41 2003 |
| PubMed ID: 14626660 |
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| Nagasawa H, Burke MJ, Little FF, McCone EF, Chan GL, Little JB, Multiple abnormalities in the ultraviolet light response of cultured fibroblasts derived from patients with the basal cell nevus syndrome. Teratog Carcinog Mutagen8:25-33 1988 |
| PubMed ID: 2897722 |
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| Chan GL, Little JB, Cultured diploid fibroblasts from patients with the nevoid basal cell carcinoma syndrome are hypersensitive to killing by ionizing radiation. Am J Pathol111:50-5 1983 |
| PubMed ID: 6837723 |
| Passage Frozen |
1 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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