rs80357701, BRCA1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer. 28024868 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. 27425403 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. 27914478 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 27741520 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia. 24742220 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population. 27081505 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. 23289006 2013
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. 21603858 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. 21603858 2012
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. 22044689 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. 22044689 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. 22044689 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516 2011
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516 2011
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 mutations contribute to cell motility and invasion by affecting its main regulators. 19098453 2008
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR BRCA1 mutations contribute to cell motility and invasion by affecting its main regulators. 19098453 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. 17080309 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. 17080309 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in a South American population. 16616110 2006