Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042838
rs1042838
PGR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 GeneticVariation BEFREE Patients carrying rs1042838 G/T, rs590688 C/C, and rs10895068 G/A genotypes had higher risk of breast cancer, while carriage of rs3740753 G/G genotype was associated with marginal reduction in breast cancer risk. 29302853

2020

dbSNP: rs1042838
rs1042838
PGR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Patients carrying rs1042838 G/T, rs590688 C/C, and rs10895068 G/A genotypes had higher risk of breast cancer, while carriage of rs3740753 G/G genotype was associated with marginal reduction in breast cancer risk. 29302853

2020

dbSNP: rs1042838
rs1042838
PGR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. 23935996

2013

dbSNP: rs1042838
rs1042838
PGR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 GeneticVariation BEFREE We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. 23935996

2013

dbSNP: rs1042838
rs1042838
PGR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE We conclude that the leucine allele of the V660L SNP may be associated with a small increase in breast cancer risk, while the other four PGR SNPs, +44C/T (rs518162), +331G/A (rs10895068), H770H (rs1042839) and Q886Q (rs500760), do not substantially increase breast cancer risk. 17592773

2008

dbSNP: rs1042838
rs1042838
PGR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 GeneticVariation BEFREE We conclude that the leucine allele of the V660L SNP may be associated with a small increase in breast cancer risk, while the other four PGR SNPs, +44C/T (rs518162), +331G/A (rs10895068), H770H (rs1042839) and Q886Q (rs500760), do not substantially increase breast cancer risk. 17592773

2008

dbSNP: rs1042838
rs1042838
PGR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 GeneticVariation BEFREE After both stages, only one SNP was significantly associated with an increased risk of breast cancer - the PGR-12 (rs1042638) V660L valine to leucine polymorphism [VL heterozygotes (odds ratio, 1.13; 95% confidence interval, 1.03-1.24) and the LL homozygotes (odds ratio, 1.30; 95% confidence interval, 0.98-1.73), P(het) = 0.008, P(trend) = 0.002]. 16614108

2006

dbSNP: rs1042838
rs1042838
PGR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE After both stages, only one SNP was significantly associated with an increased risk of breast cancer - the PGR-12 (rs1042638) V660L valine to leucine polymorphism [VL heterozygotes (odds ratio, 1.13; 95% confidence interval, 1.03-1.24) and the LL homozygotes (odds ratio, 1.30; 95% confidence interval, 0.98-1.73), P(het) = 0.008, P(trend) = 0.002]. 16614108

2006

dbSNP: rs1042838
rs1042838
PGR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Overall, our study does not support an association between the Val660-->Leu PROGINS polymorphism and breast cancer risk. 15535845

2004

dbSNP: rs1042838
rs1042838
PGR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 GeneticVariation BEFREE Overall, our study does not support an association between the Val660-->Leu PROGINS polymorphism and breast cancer risk. 15535845

2004

dbSNP: rs1042838
rs1042838
PGR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 GeneticVariation BEFREE The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women. 12010857

2002

dbSNP: rs1042838
rs1042838
PGR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women. 12010857

2002

dbSNP: rs10895068
rs10895068
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE Furthermore, carriage of rs10895068</span> minor allele in breast cancer women were also associated with age at first pregnancy, hormone receptor (RH) status, and previous use of oral contraceptives. 29302853

2020

dbSNP: rs10895068
rs10895068
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Furthermore, carriage of rs10895068</span> minor allele in breast cancer women were also associated with age at first pregnancy, hormone receptor (RH) status, and previous use of oral contraceptives. 29302853

2020

dbSNP: rs10895068
rs10895068
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Many published studies have estimated the association between the +331G/A (rs10895068) polymorphism in the progesterone receptor (PgR) gene and breast cancer risk. 29084518

2017

dbSNP: rs10895068
rs10895068
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE Many published studies have estimated the association between the +331G/A (rs10895068) polymorphism in the progesterone receptor (PgR) gene and breast cancer risk. 29084518

2017

dbSNP: rs10895068
rs10895068
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE To date, many studies have evaluated the association between a functional polymorphism in the PgR gene promoter (+331G>A, rs10895068) and breast cancer risk; however, the result is still ambiguous and inconclusive. 20076999

2010

dbSNP: rs10895068
rs10895068
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE To date, many studies have evaluated the association between a functional polymorphism in the PgR gene promoter (+331G>A, rs10895068) and breast cancer risk; however, the result is still ambiguous and inconclusive. 20076999

2010

dbSNP: rs10895068
rs10895068
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE We conclude that the leucine allele of the V660L SNP may be associated with a small increase in breast cancer risk, while the other four PGR SNPs, +44C/T (rs518162), +331G/A (rs10895068), H770H (rs1042839) and Q886Q (rs500760), do not substantially increase breast cancer risk. 17592773

2008

dbSNP: rs10895068
rs10895068
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE We conclude that the leucine allele of the V660L SNP may be associated with a small increase in breast cancer risk, while the other four PGR SNPs, +44C/T (rs518162), +331G/A (rs10895068), H770H (rs1042839) and Q886Q (rs500760), do not substantially increase breast cancer risk. 17592773

2008

dbSNP: rs1042838
rs1042838
PGR
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE This meta-analysis suggests that the two polymorphisms of PGR, Alu insertion and Val660Leu, may contribute to ovarian cancer susceptibility as low-penetrance risk factors. 25228088

2015

dbSNP: rs1042838
rs1042838
PGR
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE This meta-analysis suggests that the two polymorphisms of PGR, Alu insertion and Val660Leu, may contribute to ovarian cancer susceptibility as low-penetrance risk factors. 25228088

2015

dbSNP: rs1042838
rs1042838
PGR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.030 GeneticVariation BEFREE This meta-analysis suggests that the two polymorphisms of PGR, Alu insertion and Val660Leu, may contribute to ovarian cancer susceptibility as low-penetrance risk factors. 25228088

2015

dbSNP: rs1042838
rs1042838
PGR
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE Five haplotypes occurred with greater than 5% frequency, and the haplotype carrying the V</span>660L variant had a significant association with ovarian cancer (odds ratio = 0.76, 95% confidence interval: 0.62, 0.92). 15718480

2005

dbSNP: rs1042838
rs1042838
PGR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.030 GeneticVariation BEFREE Five haplotypes occurred with greater than 5% frequency, and the haplotype carrying the V</span>660L variant had a significant association with ovarian cancer (odds ratio = 0.76, 95% confidence interval: 0.62, 0.92). 15718480

2005