Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.900 GeneticVariation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.770 CausalMutation CLINVAR

dbSNP: rs180177132
rs180177132
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.730 CausalMutation CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249

2011
dbSNP: rs180177132
rs180177132
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.730 CausalMutation CLINVAR About 1.5% (95% CI 0.6to 2.4) of Australasian multiple-case breast cancer families attending clinics are segregating protein-truncating mutations in PALB2, most being PALB2 c.3113G>A, p.Trp1038*. 23448497

2013
dbSNP: rs180177132
rs180177132
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.730 CausalMutation CLINVAR Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls. 21182766

2010
dbSNP: rs80357474
rs80357474
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.710 CausalMutation CLINVAR

dbSNP: rs80356898
rs80356898
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.710 CausalMutation CLINVAR

dbSNP: rs515726123
rs515726123
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.710 CausalMutation CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249

2011
dbSNP: rs515726123
rs515726123
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.710 CausalMutation CLINVAR PALB2 mutations in European familial pancreatic cancer families. 20412113

2010
dbSNP: rs515726123
rs515726123
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.710 CausalMutation CLINVAR A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. 20122277

2010
dbSNP: rs864622149
rs864622149
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs80359770
rs80359770
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs80359598
rs80359598
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs80359306
rs80359306
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		GA 0.700 GeneticVariation CLINVAR

dbSNP: rs80359011
rs80359011
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs80357678
rs80357678
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs80357522
rs80357522
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		CT 0.700 GeneticVariation CLINVAR

dbSNP: rs777741666
rs777741666
ATM ; C11orf65
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs775248597
rs775248597
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs772821016
rs772821016
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs769240800
rs769240800
PALB2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.700 CausalMutation CLINVAR

dbSNP: rs759363072
rs759363072
BMPR1A
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs755009196
rs755009196
ATM ; C11orf65
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs587782652
rs587782652
ATM ; C11orf65
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587782471
rs587782471
CHEK2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.700 GeneticVariation CLINVAR