Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772821016
rs772821016
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs775248597
rs775248597
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs777741666
rs777741666
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 GeneticVariation CLINVAR

dbSNP: rs80357678
rs80357678
BRCA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs80359011
rs80359011
BRCA2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs80359598
rs80359598
BRCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs80359770
rs80359770
BRCA2
CA 0.700 CausalMutation CLINVAR

dbSNP: rs864622149
rs864622149
CHEK2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1236971182
rs1236971182
CDKN1A
0.010 GeneticVariation BEFREE Functional analysis of a p21WAF1,CIP1,SDI1 mutant (Arg94 --> Trp) identified in a human breast carcinoma. Evidence that the mutation impairs the ability of p21 to inhibit cyclin-dependent kinases. 8663132

1996
dbSNP: rs1800709
rs1800709
BRCA1
0.010 GeneticVariation BEFREE Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with breast cancer diagnosed at age 77 years, and cancer in one parent. 8968716

1996
dbSNP: rs747097215
rs747097215
SLC12A9
0.010 GeneticVariation BEFREE Functional analysis of a p21WAF1,CIP1,SDI1 mutant (Arg94 --> Trp) identified in a human breast carcinoma. Evidence that the mutation impairs the ability of p21 to inhibit cyclin-dependent kinases. 8663132

1996
dbSNP: rs1695
rs1695
GSTP1
0.100 GeneticVariation BEFREE When COMT(LL) was combined with either glutathione S-transferase (GST) M1 null or with GSTP1 Ile-105-Val/Val-105-Val (intermediate/low activity, respectively) genotypes, the risk for developing postmenopausal breast cancer was also significantly increased. 9407957

1997
dbSNP: rs1057520001
rs1057520001
TP53
0.030 GeneticVariation BEFREE Furthermore, paired normal tissue was available for 3 of 20 breast carcinomas with the Ser31Arg transversion. 9006333

1997
dbSNP: rs886039484
rs886039484
TP53
0.030 GeneticVariation BEFREE Furthermore, paired normal tissue was available for 3 of 20 breast carcinomas with the Ser31Arg transversion. 9006333

1997
dbSNP: rs1801270
rs1801270
CDKN1A
0.020 GeneticVariation BEFREE Furthermore, paired normal tissue was available for 3 of 20 breast carcinomas with the Ser31Arg transversion. 9006333

1997
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
0.080 GeneticVariation BEFREE We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 9463314

1998
dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE To determine whether the I1307K variant plays a role in colorectal or breast cancer predisposition in the Norwegian population, we have analyzed blood samples from 210 colorectal cancer patients and 183 breast cancer patients by PCR and direct sequencing. 9679946

1998
dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE To determine whether the I1307K variant plays a role in colorectal or breast cancer predisposition in the Norwegian population, we have analyzed blood samples from 210 colorectal cancer patients and 183 breast cancer patients by PCR and direct sequencing. 9679946

1998
dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE We conclude that the presence of the I1307K polymorphism does not appear to be associated with any particular clinicopathological feature of breast cancer and importantly, does not affect the prognosis. 10555757

1999
dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE We conclude that the presence of the I1307K polymorphism does not appear to be associated with any particular clinicopathological feature of breast cancer and importantly, does not affect the prognosis. 10555757

1999
dbSNP: rs4987208
rs4987208
RAD52
0.010 GeneticVariation BEFREE Two premature stop codons, Ser346ter and Tyr415ter, were identified in germ-line RAD52 alleles from 5% of early-onset breast cancer cases. 10463575

1999
dbSNP: rs80356881
rs80356881
BRCA1
0.010 GeneticVariation BEFREE We identified two BRCA1 mutations in a high risk breast cancer family: the missense 1240 C > T (Thr > Ile) and the 1241delAC at codon 374, which results in a stop at codon 376. 10424783

1999
dbSNP: rs1136201
rs1136201
ERBB2
0.100 GeneticVariation BEFREE Genomic DNA from 339 patients with breast cancer and 361 healthy control subjects was examined for the Val(655)Ile polymorphism with a polymerase chain reaction-restriction fragment-length polymorphism-based assay. 10699071

2000