|
rs747097215
|
|
Breast Carcinoma
|
|
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 |
|
rs1800709
|
|
Breast Carcinoma
|
|
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 |
|
rs1236971182
|
|
Breast Carcinoma
|
|
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 |
|
rs1695
|
|
Breast Carcinoma
|
|
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 |
|
rs886039484
|
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, paired normal tissue was available for 3 of 20 breast carcinomas with the Ser31Arg transversion.
|
9006333 |
1997 |
|
rs1057520001
|
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, paired normal tissue was available for 3 of 20 breast carcinomas with the Ser31Arg transversion.
|
9006333 |
1997 |
|
rs1801270
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Furthermore, paired normal tissue was available for 3 of 20 breast carcinomas with the Ser31Arg transversion.
|
9006333 |
1997 |
|
rs28904921
|
|
Breast Carcinoma
|
|
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 |
|
rs1801155
|
|
Breast Carcinoma
|
|
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 |
|
rs1463038513
|
|
Breast Carcinoma
|
|
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 |
|
rs1801155
|
|
Breast Carcinoma
|
|
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 |
|
rs1463038513
|
|
Breast Carcinoma
|
|
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 |
|
rs80356881
|
|
Breast Carcinoma
|
|
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 |
|
rs4987208
|
|
Breast Carcinoma
|
|
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 |
|
rs4680
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
A valine-108-methionine polymorphism in exon 4 of the catechol-O-methyltransferase (COMT) gene causes a 3- to 4-fold reduction in enzyme activity and has been associated with an increased risk of breast cancer.
|
11142424 |
2000 |
|
rs1695
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Association between survival after treatment for breast cancer and glutathione S-transferase P1 Ile105Val polymorphism.
|
11059750 |
2000 |
|
rs144848
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we show that a common human polymorphism (N372H) in exon 10 of BRCA2 confers an increased risk of breast cancer: the HH homozygotes have a 1.31-fold (95% CI, 1.07-1.61) greater risk than the NN group.
|
11062481 |
2000 |
|
rs1136201
|
|
Breast Carcinoma
|
|
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 |
|
rs80358547
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
RNA analysis from a breast cancer patient with BRCA2 IVS7 + 2T --> G showed that the productive message was produced from only one chromosome.
|
11185744 |
2000 |
|
rs61753793
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel amino acid change, F340S, was found in a patient with sporadic colon and breast cancer and leukemia but was not detected in 246 chromosomes from healthy anonymous blood donors.
|
10699937 |
2000 |
|
rs191257018
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel amino acid change, F340S, was found in a patient with sporadic colon and breast cancer and leukemia but was not detected in 246 chromosomes from healthy anonymous blood donors.
|
10699937 |
2000 |
|
rs4680
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To date, three studies in Caucasians and one study in Chinese have been conducted to determine the association with breast cancer risk of a functional polymorphism (G-to-A, Val158Met) of this enzyme, but the results were inconsistent.
|
11706521 |
2001 |
|
rs4680
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Relationship between the Val158Met polymorphism of catechol O-methyl transferase and breast cancer.
|
11434504 |
2001 |
|
rs4680
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Several studies have indicated that the val108met COMT polymorphism, which results in a 3-4-fold decrease in activity, is associated with increased breast cancer risk.
|
11577006 |
2001 |
|
rs25487
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We examined the association of polymorphisms in XRCC1 (codon 194 Arg-->Trp and codon 399 Arg-->Gln) and breast cancer in the Carolina Breast Cancer Study, a population-based case-control study in North Carolina.
|
11303590 |
2001 |