rs799917, BRCA1

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. 19205873 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. 19205873 2009
Bloom Syndrome
CUI: C0005859
Disease: Bloom Syndrome
0.010 GeneticVariation BEFREE In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. 19205873 2009
Werner Syndrome
CUI: C0043119
Disease: Werner Syndrome
0.010 GeneticVariation BEFREE In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. 19205873 2009
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE Genotyping of BRCA1 and BRCA2 in the Italian family revealed the presence of two significant polymorphisms: the cancer-associated c.2612C>T SNP in BRCA1, and the c.-26G>A SNP in the BRCA2 gene, acting as an ovarian cancer risk modifier in carriers of deleterious BRCA1 mutations. 19287957 2009
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.030 GeneticVariation BEFREE Genotyping of BRCA1 and BRCA2 in the Italian family revealed the presence of two significant polymorphisms: the cancer-associated c.2612C>T SNP in BRCA1, and the c.-26G>A SNP in the BRCA2 gene, acting as an ovarian cancer risk modifier in carriers of deleterious BRCA1 mutations. 19287957 2009
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.010 GeneticVariation BEFREE These findings indicate that BRCA1 rs799917 polymorphism may contribute to the risk of cervical cancer in this Chinese population, and further validation in other populations are warranted. 19482343 2009
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.010 GeneticVariation BEFREE These findings indicate that BRCA1 rs799917 polymorphism may contribute to the risk of cervical cancer in this Chinese population, and further validation in other populations are warranted. 19482343 2009
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE These findings indicate that BRCA1 rs799917 polymorphism may contribute to the risk of cervical cancer in this Chinese population, and further validation in other populations are warranted. 19482343 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Joint effect analyses indicated that all the variant genotypes of ZNF350 polymorphisms accounted for increased breast cancer risk among subjects carrying variant homozygote of BRCA1 rs799917, particularly for ZNF350 rs4986773 (OR = 2.03, 95%CI = 1.02-4.05, the test for gene-gene interaction P (int) = 0.059). 19484476 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Joint effect analyses indicated that all the variant genotypes of ZNF350 polymorphisms accounted for increased breast cancer risk among subjects carrying variant homozygote of BRCA1 rs799917, particularly for ZNF350 rs4986773 (OR = 2.03, 95%CI = 1.02-4.05, the test for gene-gene interaction P (int) = 0.059). 19484476 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control population study and observed that germline occurrence of rs799917-BRCA1 and rs334348-TGFR1 significantly varies among populations with different risks of developing BC. 20332227 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control population study and observed that germline occurrence of rs799917-BRCA1 and rs334348-TGFR1 significantly varies among populations with different risks of developing BC. 20332227 2010
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
0.020 GeneticVariation BEFREE Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among women who carried BRCA1 (rs799917) CT/TT, ERCC2 (rs13181) AA, XRCC1 (rs1799782) CC, and WRN (rs1801195) GG genotypes, but no increase in NHL risk among women who carried BRCA1 CC, ERCC2 AC/CC, XRCC1 CT/TT, and WRN GT/TT genotypes. 23619945 2013
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
0.010 GeneticVariation BEFREE In vivo BRCA1 messenger RNA expression analyses showed that the rs799917 C allele carriers had significantly decreased BRCA1 expression in both normal and cancerous esophagus tissues compared with T allele carriers, suggesting that lower BRCA1 expression may lead to higher risk for malignant transformation of esophagus cells. 23749772 2013
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE These results suggest that BRCA1 functional rs799917 polymorphism is involved in susceptibility to developing ESCC, alone and in a gene-environment interaction manner. 23749772 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE In summary, based on the overall results, this meta-analysis strongly suggests that the BRCA1 rs799917 polymorphism is not associated with breast cancer risk. 25194442 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE In summary, based on the overall results, this meta-analysis strongly suggests that the BRCA1 rs799917 polymorphism is not associated with breast cancer risk. 25194442 2014
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.010 GeneticVariation BEFREE Our results for the first time indicate that the functional BRCA1 rs799917 polymorphism contributes to g</span>astric cancer susceptibility. 25266802 2015
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE Our results for the first time indicate that the functional BRCA1 rs799917 polymorphism contributes to g</span>astric cancer susceptibility. 25266802 2015
Breast Cancer, Familial
CUI: C0346153
Disease: Breast Cancer, Familial
0.010 GeneticVariation BEFREE The association of four variants was identified within BRCA1 gene (c.442.58 delT, c.2311T>C, c.2612C>T and c.4308T>C) to familial breast cancer across their wild genotypes. miR-1179 was selected as potential miR that targets the region of BRCA1 mRNA containing the c.2311T>C variant within the TT genotype. 25273865 2014
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.010 GeneticVariation BEFREE Thus, we carried out a case-control study to test the association with CML susceptibility of gene variants located in the miRNA machinery genes AGO1 (rs636832) and GEMIN4 (rs2740348), as well as in the miRNA binding sites of the genes BRCA1 (rs799917) and KRAS (rs61764370). 27221928 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer. 28427168 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.030 GeneticVariation BEFREE In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer. 28427168 2017
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE Associations between the rs799917 polymorphism and progression risk were investigated after genotyping 370 TNBC patients. 28744749 2017