Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 GeneticVariation CLINVAR Mutations in residues of TP53 that directly contact DNA predict poor outcome in human primary breast cancer. 9569050

1998
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 CausalMutation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 GeneticVariation CLINVAR The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer. 16489069

2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. 11504908

2001
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837

2008
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer. 24398047

2014
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. 17721994

2007
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib. 22046346

2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035

2007
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR [Simple and rapid technic of grouping of streptococci]. 824983

1976
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma. 28514723

2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. 16551709

2006
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR The selective class I PI3K inhibitor CH5132799 targets human cancers harboring oncogenic PIK3CA mutations. 21558396

2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation CLINVAR Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective. 26344711

2015
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. 16397024

2006
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR Purification and characterization of a new sodium-transport decarboxylase. Methylmalonyl-CoA decarboxylase from Veillonella alcalescens. 6852015

1983