|
rs2297595
|
|
Neutropenia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Univariate analysis allowed the selection of c.1905+1G>A, c.2194G>A and c.2846A>T alleles as significantly associated with gastrointestinal and hematological ADRs (p < 0.05), while the c.496A>G variant showed a positive trend of association with neutropenia (p = 0.06).
|
30723313 |
2019 |
|
rs2297595
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
|
0.020 |
GeneticVariation
|
BEFREE |
This analysis identified the variants c.85T>C and c.496A>G, which were previously described as pivotal components of the haplotype associated with decreased enzyme activity and suggested that both variant alleles are related to DPD deficiency.
|
30915274 |
2019 |
|
rs2297595
|
|
Leukopenia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Univariate analysis allowed the selection of c.1905+1G>A, c.2194G>A and c.2846A>T alleles as significantly associated with gastrointestinal and hematological ADRs (p < 0.05), while the c.496A>G variant showed a positive trend of association with neutropenia (p = 0.06).
|
30723313 |
2019 |
|
rs2297595
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
|
0.020 |
GeneticVariation
|
BEFREE |
Given the marginal role of c.496A>G and c.2194G>A in DPD deficiency, the cause of death was suggested to be dependent on the novel c.1850C>T in combination with c.257C>T.
|
26651493 |
2016 |
|
rs2297595
|
|
Neutropenia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Analysis of these alterations as risk factors for development of toxicity in pooled FPs-treated population demonstrated that C29R negatively correlated with overall gastrointestinal toxicity (OR = 0.48; 95%CI 0.23-1.0) and M166V in women protected against overall hematological toxicity and neutropenia (both OR = 0.26; 95%CI 0.07-0.89), whereas IVS14+1G>A (found in five high-toxicity patients only) increased risk of mucositis in overall population (OR = 7.0; 95%CI 1.1-44.53), and thrombocytopenia in women (OR = 10.8; 95%CI 1.24-93.98).
|
19473056 |
2009 |
|
rs2297595
|
|
Leukopenia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Analysis of these alterations as risk factors for development of toxicity in pooled FPs-treated population demonstrated that C29R negatively correlated with overall gastrointestinal toxicity (OR = 0.48; 95%CI 0.23-1.0) and M166V in women protected against overall hematological toxicity and neutropenia (both OR = 0.26; 95%CI 0.07-0.89), whereas IVS14+1G>A (found in five high-toxicity patients only) increased risk of mucositis in overall population (OR = 7.0; 95%CI 1.1-44.53), and thrombocytopenia in women (OR = 10.8; 95%CI 1.24-93.98).
|
19473056 |
2009 |
|
rs2297595
|
|
Multiple Chronic Conditions
|
|
0.010 |
GeneticVariation
|
BEFREE |
Multi-SNP analysis showed that a three-SNP haplotype (Hap7) involving rs1801160, rs1801265 and rs2297595 causes a marked decrease in 5-FUDR, comparable to that caused by the splice site variant rs3918290, which is the main pharmacogenetic marker associated with severe fluorouracil toxicity.
|
26216193 |
2016 |
|
rs2297595
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The polymorphism c.496A>G was the DPYD gene variant with the highest detection rate (12.9%), occurred predominantly in females (86.7%, p=0.0044) and was exclusively seen in KRAS wild type primary CRC (15/65 (23.1%) vs 0/51 (0%) in KRAS-mutated primary CRC, respectively, p=0.0001).
|
26281864 |
2016 |
|
rs2297595
|
|
Gastrointestinal mucositis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Analysis of these alterations as risk factors for development of toxicity in pooled FPs-treated population demonstrated that C29R negatively correlated with overall gastrointestinal toxicity (OR = 0.48; 95%CI 0.23-1.0) and M166V in women protected against overall hematological toxicity and neutropenia (both OR = 0.26; 95%CI 0.07-0.89), whereas IVS14+1G>A (found in five high-toxicity patients only) increased risk of mucositis in overall population (OR = 7.0; 95%CI 1.1-44.53), and thrombocytopenia in women (OR = 10.8; 95%CI 1.24-93.98).
|
19473056 |
2009 |
|
rs2297595
|
|
Thrombocytopenia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Analysis of these alterations as risk factors for development of toxicity in pooled FPs-treated population demonstrated that C29R negatively correlated with overall gastrointestinal toxicity (OR = 0.48; 95%CI 0.23-1.0) and M166V in women protected against overall hematological toxicity and neutropenia (both OR = 0.26; 95%CI 0.07-0.89), whereas IVS14+1G>A (found in five high-toxicity patients only) increased risk of mucositis in overall population (OR = 7.0; 95%CI 1.1-44.53), and thrombocytopenia in women (OR = 10.8; 95%CI 1.24-93.98).
|
19473056 |
2009 |
|
rs2297595
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Comparing tumor-type matched sets of samples, correlation of c.496A>G with toxicity was particularly present in patients with gastroesophageal and breast cancer, but did not reach significance in patients with colorectal malignancies.
|
19104657 |
2008 |
|
rs2297595
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Comparing tumor-type matched sets of samples, correlation of c.496A>G with toxicity was particularly present in patients with gastroesophageal and breast cancer, but did not reach significance in patients with colorectal malignancies.
|
19104657 |
2008 |
|
rs2297595
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Comparing tumor-type matched sets of samples, correlation of c.496A>G with toxicity was particularly present in patients with gastroesophageal and breast cancer, but did not reach significance in patients with colorectal malignancies.
|
19104657 |
2008 |