Table 1.
Common single nucleotide polymorphisms (SNPs) of the BARD1 gene identified in neuroblastoma.
| Neuroblastoma | ||||||||
|---|---|---|---|---|---|---|---|---|
| SNP | Susceptibility to NB | Location | Allelic Change | Function | Mechanism | Associates with | Population | Linkage Disequilibrium |
| rs6435862 | ↑ | Intron 1 | T > G | Removes exons 2 and 3 and produces the oncogenic BARD1β isoform [90] | BARD1β interacts with and stabilizes Aurora kinase A and B (independent of p53 and BRCA1) [90] | UK, AA/US: high-risk [85,87] EA/US: high-risk [85,86], stage 4N, MYCN amp, age > 18 mos. [86] Chinese: adrenal origin, stage IV, stage III & IV, age > 12 mos. [88,89] |
European Americans [85,86], UK Caucasians [85], Italians [86], African Americans [87], Han Chinese [88,89] | |
| rs3768716 | ↑ | Intronic | A > G | EA/US, UK, Italians: high-risk [85,86] Chinese: adrenal origin, stage III & IV [88,89], age > 12 mos. [89] |
European Americans [85,86], UK Caucasians [85], Italians [86], African Americans [87], Han Chinese [88,89] | |||
| rs17489363 | ↑ | 5′ UTR (promoter region) | C > T [92] G > A [88] |
Decreases mRNA expression of BARD1-FL [88,92] | Through the binding of HSF1 [92] | EA/US, AA/US, Italians: high-risk [92] Chinese: adrenal origin [88] |
European Americans, African Americans, Italians, Spaniards [92], Han Chinese [88] | rs6720708 [94] |
| rs6720708 | ↑ | C > T | EA/US: adrenal origin [94] | European Americans [94] | rs17489363 [94] | |||
| rs7585356 | ↓ | 3′ UTR | G > A | Increases mRNA expression of BARD1-FL [86] | EA/US: high-risk, stage 4N, MYCN amp, age < 18 mos. [86] Italians: stage 4N, age < 18 mos. [86] Chinese: females [89] |
European Americans [85,86], Italians [86], Han Chinese [89] | rs16852600 (intronic) [85,95] |
|
| rs1048108 | ↓ | Exon 1 (P24S) | C>T [85,86] G>A [92] |
Negatively regulates cellular development and modulates development and apoptosis [95] | EA/US, Italians, AA/US: high-risk [92] | European Americans [85,92], Italians [86,92], African Americans, Spaniards [92] | ||
| rs16852804 | ↑ | Intronic | C > T | African Americans [87] | ||||
| rs7599060 | ↑ | Intronic | G > A | AA/US: high-risk [87] | African Americans [87] | |||
| rs373888 | ↑ | Exon 10 (R658C) | C > T | Chinese: adrenal origin [88] | Han Chinese [88] | |||
Arrows indicate increased (↑) and decreased (↓) susceptibility to NB.