|
rs200085146
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs748434421
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs774057024
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs750600586
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Direct sequencing of the mutant band revealed that one patient had a C to T transition at codon 138 (Ala to Val) and one patient had a G to C transversion at codon 139 (Lys to Asn). p53 mutations in germline cells in hereditary cancer syndromes predispose the family members to the development of malignancies.
|
8321049 |
1993 |
|
rs876660829
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Direct sequencing of the mutant band revealed that one patient had a C to T transition at codon 138 (Ala to Val) and one patient had a G to C transversion at codon 139 (Lys to Asn). p53 mutations in germline cells in hereditary cancer syndromes predispose the family members to the development of malignancies.
|
8321049 |
1993 |
|
rs28934576
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
|
rs11540652
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
|
rs1019340046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
|
rs63750217
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No germline mutation was found in the whole coding sequences of hMSH2 and hMTH1, or in the conservative regions of hMLH1 in any patient, while one cancer DNA showed a somatic mutation at codon 682 (threonine to alanine) in hMSH2.
|
8766523 |
1996 |
|
rs63751002
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No germline mutation was found in the whole coding sequences of hMSH2 and hMTH1, or in the conservative regions of hMLH1 in any patient, while one cancer DNA showed a somatic mutation at codon 682 (threonine to alanine) in hMSH2.
|
8766523 |
1996 |
|
rs1051740
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Seventy-three Caucasian patients with ovarian cancer and 75 Caucasian-female controls without cancer were genotyped for the Tyr113His polymorphism by a polymerase chain reaction-restriction fragment length polymorphism assay.
|
8944076 |
1996 |
|
rs1800709
|
|
|
0.020 |
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 |
|
rs149308960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three patients with a family history of cancer were carrying a Gly160Cys germline substitution.
|
9195227 |
1997 |
|
rs1799930
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The extraction method was combined with newly designed PCR-based assays for cancer susceptibility marker genes such as CYP1A1 (exon 7), CYP2E1 (Dra1, Rsa1), GSTM1 and NAT2 [NAT2*5A (C481T), NAT2*6A (G590A), NAT2*7A (G857A)].
|
9214613 |
1997 |
|
rs1799931
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The extraction method was combined with newly designed PCR-based assays for cancer susceptibility marker genes such as CYP1A1 (exon 7), CYP2E1 (Dra1, Rsa1), GSTM1 and NAT2 [NAT2*5A (C481T), NAT2*6A (G590A), NAT2*7A (G857A)].
|
9214613 |
1997 |
|
rs1799929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The extraction method was combined with newly designed PCR-based assays for cancer susceptibility marker genes such as CYP1A1 (exon 7), CYP2E1 (Dra1, Rsa1), GSTM1 and NAT2 [NAT2*5A (C481T), NAT2*6A (G590A), NAT2*7A (G857A)].
|
9214613 |
1997 |
|
rs28897672
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain.
|
9525870 |
1998 |
|
rs1800709
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K.
|
9585599 |
1998 |
|
rs1322051434
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K.
|
9585599 |
1998 |
|
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the Ashkenazi Jewish population, the I1307K allele is unlikely to increase the risk of ovarian cancer or of cancer in general.
|
9679945 |
1998 |
|
rs1801155
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the Ashkenazi Jewish population, the I1307K allele is unlikely to increase the risk of ovarian cancer or of cancer in general.
|
9679945 |
1998 |
|
rs587782529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, the R337C mutant retains some functional activity yet leads to a predisposition to cancer, suggesting that even partial inactivation of p53 oligomerization is sufficient for accelerated tumour progression.
|
9704931 |
1998 |
|
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey.
|
9731533 |
1998 |
|
rs1801155
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey.
|
9731533 |
1998 |
|
rs1171303257
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotype spectrum discriminated on this strip includes the high-risk, or cancer-associated, HPV genotypes 16, 18, 26, 31, 33, 35, 39, 45, 51, 52, 55, 56, 58, 59, 68 (ME180), MM4 (W13B), MM7 (P291), and MM9 (P238A) and the low-risk, or non-cancer-associated, genotypes 6, 11, 40, 42, 53, 54, 57, 66, and MM8 (P155).
|
9738060 |
1998 |