APOBEC3B
Gene name: apolipoprotein B mRNA editing enzyme catalytic subunit 3B
OMIM ID: 607110 Chromosome location: 22q13.1
Polymorphisms
| Disease/Phenotype | Breast cancer, susceptibility to |
|---|
| Reference transcript | NM_001270411.1 |
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| DNA Change | c.-977C>T |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | substitution |
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| Reference SNP | rs8142462 |
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| Cases | 226 cases |
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| Controls | 200 healthy women |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| CC | 181 (80.09%) | 176 (88.00%) | 1 | | | CT | 42 (18.58%) | 24 (12.00%) | 1.70 (0.99-2.93) | 0.0500 | | TT | 3 (1.33%) | 0 (0.00%) | 0 (0) | 0.9839 |
|
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| Reference | Marouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A.
Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8. |
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| Disease/Phenotype | Breast cancer, susceptibility to |
|---|
| Reference transcript | NM_001193289.1 |
|---|
| DNA Change | c.586-9372T>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs28401571 |
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| Cases | 226 cases |
|---|
| Controls | 200 healthy women |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| CC | 95 (42.0%) | 69 (34.50%) | 1 | | | CT | 93 (41.15%) | 80 (40.00%) | 0.84 (0.55-1.30) | 0.4412 | | TT | 38 (16.81%) | 51 (25.50%) | 0.54 (0.32-0.91) | 0.0212 |
|
|---|
| Reference | Marouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A.
Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8. |
|---|
| Disease/Phenotype | Breast cancer, susceptibility to |
|---|
| Reference transcript | NC_000022.10 |
|---|
| DNA Change | g.39407399T>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs6001376 |
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| Cases | 226 cases |
|---|
| Controls | 200 healthy women |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| TT | 82 (36.28%) | 93 (46.50%) | 1 | | | TC | 106 (46.90%) | 87 (43.50%) | 1.38 (0.92-2.08) | 0.1226 | | CC | 38 (16.81%) | 20 (10.00%) | 2.15 (1.16-4.00) | 0.0148 |
|
|---|
| Reference | Marouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A.
Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8. |
|---|
| Disease/Phenotype | Breast cancer, susceptibility to |
|---|
| Reference transcript | NM_001270411.1 |
|---|
| DNA Change | c.870C>T |
|---|
| A.A. Change | p.Tyr315= |
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| Exon/Intron | exon 6 |
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| Variation Type | substitution |
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| Reference SNP | rs1065184 |
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| Cases | 226 cases |
|---|
| Controls | 200 healthy women |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| CC | 44 (19.47%) | 49 (24.50%) | 1 | | | CT | 128 (56.64%) | 119 (59.50%) | 1.20 (0.74-1.93) | 0.4587 | | TT | 54 (23.89%) | 32 (16.00%) | 1.88 (1.03-3.42) | 0.0385 |
|
|---|
| Reference | Marouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A.
Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8. |
|---|