Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 GeneticVariation BEFREE The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. 19876733

2010
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 GeneticVariation BEFREE The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. 19876733

2010
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 GeneticVariation BEFREE The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. 19876733

2010
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 GeneticVariation BEFREE Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. 17220212

2007
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 GeneticVariation BEFREE Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. 17220212

2007
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 GeneticVariation BEFREE Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. 17220212

2007
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression. 28319063

2017
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Whole-exome sequencing of a breast cancer from a c.104T>C carrier revealed a second, somatic, truncating mutation affecting PALB2, and the tumor displays hallmark genomic features of tumors with BRCA mutations and HR defects, cementing the pathogenicity of L35P. 28319063

2017
dbSNP: rs786203319
rs786203319
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 GeneticVariation BEFREE Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression. 28319063

2017