Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519992
rs1057519992
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation BEFREE One tumor had an arginine to histidine substitution at position 175, and one tumor had a glycine to aspartic acid substitution at position 245. 1913660

1991
dbSNP: rs587778720
rs587778720
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE One tumor showed a G to C transversion at p53 codon 213 (arginine to proline), and another showed deletion of the entire gene. 1559227

1992
dbSNP: rs121908859
rs121908859
TSHR ; LOC101928462
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE These mutations are restricted to tumour tissue and involve two different residues (aspartic acid at position 619 to glycine in two cases, and alanine at position 623 to isoleucine in one case). 8413627

1993
dbSNP: rs28934576
rs28934576
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.780 GeneticVariation BEFREE All three follicular cell lines, however, and the original tumor tissue showed the same p53 mutation (R273H) in MOH analysis and TGGE. 7725741

1995
dbSNP: rs1801270
rs1801270
CDKN1A
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese. 7606201

1995
dbSNP: rs886039484
rs886039484
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese. 7606201

1995
dbSNP: rs79781594
rs79781594
RET
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Furthermore, one patient had a 618 Cys-->Ser mutation in the tumor and nontumorous thyroid DNA but not in blood DNA, indicating a mosaic mutation affecting thyroid tissue but not blood cells. 8625130

1995
dbSNP: rs770251749
rs770251749
MLIP
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese. 7606201

1995
dbSNP: rs76262710
rs76262710
RET
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Furthermore, one patient had a 618 Cys-->Ser mutation in the tumor and nontumorous thyroid DNA but not in blood DNA, indicating a mosaic mutation affecting thyroid tissue but not blood cells. 8625130

1995
dbSNP: rs536976542
rs536976542
GNAS
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE All three follicular cell lines, however, and the original tumor tissue showed the same p53 mutation (R273H) in MOH analysis and TGGE. 7725741

1995
dbSNP: rs200246711
rs200246711
ABCB6
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE All three follicular cell lines, however, and the original tumor tissue showed the same p53 mutation (R273H) in MOH analysis and TGGE. 7725741

1995
dbSNP: rs147506929
rs147506929
NF2
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Sequencing of these variants in one tumor detected an A-to-G transition in bp 1459 of the NF2 cDNA, resulting in the change of Ile to Val at codon 487 of merlin, the NF2 protein product. 7497438

1995
dbSNP: rs139085046
rs139085046
TAS2R38 ; MGAM
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE All three follicular cell lines, however, and the original tumor tissue showed the same p53 mutation (R273H) in MOH analysis and TGGE. 7725741

1995
dbSNP: rs1057520001
rs1057520001
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese. 7606201

1995
dbSNP: rs2229080
rs2229080
DCC
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation BEFREE Codon 201Arg/Gly polymorphism in tumor tissues did not differ from that in the corresponding normal tissues, except for 10 cases of carcinoma with loss of heterozygosity (LOH). 9440618

1997
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE In addition to the wild-type sequence, the Pro121Leu exchange in the uPA sequence was detected in 10 out of 22 tumor tissues; 11 tumors carried exclusively the Pro121 allele; in one case exclusively the Leu121 allele was detected. 9194591

1997
dbSNP: rs1801155
rs1801155
APC
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation BEFREE Somatic mutations involving the variant (A)8 tract were identified in 53 of 127 (42%) tumors from APC I1307K carriers compared with 5 of 127 (4%) mutations involving the wild-type allele of these tumors (P < 0.0001). 9751605

1998
dbSNP: rs1463038513
rs1463038513
APC
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation BEFREE Somatic mutations involving the variant (A)8 tract were identified in 53 of 127 (42%) tumors from APC I1307K carriers compared with 5 of 127 (4%) mutations involving the wild-type allele of these tumors (P < 0.0001). 9751605

1998
dbSNP: rs121913412
rs121913412
CTNNB1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 GeneticVariation BEFREE Heterozygous substitution mutations at codon 37 in two cases (S37F and S37C) and at codon 41 in one case (T41A) were found in three endometrioid lesions (one borderline tumor and two carcinomas) with abnormal beta-catenin expression. 9537226

1998
dbSNP: rs3731249
rs3731249
CDKN2A
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE By direct sequencing of polymerase chain reaction (PCR)-amplified microdissected genomic DNA; no somatic or germline p16INK4a point mutations or small deletions were detected in the remaining 34 tumour samples; one individual exhibited the previously described germline codon 148 (Ala-->Thr) polymorphism. 9536218

1998
dbSNP: rs749280481
rs749280481
SLC22A18
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE The G1120A substitution thus represents either a rare polymorphism or a tumor-predisposing mutation, because the mutant allele was of maternal origin and preferentially expressed in the patient's tissue. 9751628

1998
dbSNP: rs17653265
rs17653265
GJA1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE The mutant Cx43 A253V (Ala 253 to Val) inhibited the tumor-suppressive function exerted by wild-type Cx43 in C6 cells. 9820654

1998
dbSNP: rs137853296
rs137853296
RB1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively. 10671068

1998
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Heterozygous substitution mutations at codon 37 in two cases (S37F and S37C) and at codon 41 in one case (T41A) were found in three endometrioid lesions (one borderline tumor and two carcinomas) with abnormal beta-catenin expression. 9537226

1998
dbSNP: rs121913243
rs121913243
MET
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE The identification of the H1112R mutation will facilitate predictive testing in HPRC and guide future studies of the MET gene in human neoplasia. 9563489

1998