Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780073
rs587780073
TP53
C 0.800 GeneticVariation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs587780073
rs587780073
TP53
C 0.800 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs587780073
rs587780073
TP53
C 0.800 GeneticVariation CLINVAR Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. 16861262

2007
dbSNP: rs587780073
rs587780073
TP53
C 0.800 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs587780073
rs587780073
TP53
C 0.800 GeneticVariation CLINVAR Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol. 12695689

2003
dbSNP: rs587780073
rs587780073
TP53
C 0.800 GeneticVariation CLINVAR TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution. 11358831

2001
dbSNP: rs587780073
rs587780073
TP53
C 0.800 GeneticVariation CLINVAR Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. 10229196

1999
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991
dbSNP: rs587780073
rs587780073
TP53
0.800 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990