rs55770810, BRCA1

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.810 GeneticVariation BEFREE Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X). 22889855 2012
Phyllodes Tumor
CUI: C0010701
Disease: Phyllodes Tumor
0.010 GeneticVariation BEFREE We conclude that the histopathologic appearance of the phyllodes tumor indicates an association with the BRCA1 mutation R1699W although it is a rare event in BRCA-positive families. 17574969 2007
Malignant phyllodes tumor of breast
CUI: C0346154
Disease: Malignant phyllodes tumor of breast
0.010 GeneticVariation BEFREE We report on a patient carrying the deleterious BRCA1 germline mutation R1699W, who presented with a malignant phyllodes tumor of the breast. 17574969 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X). 22889855 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.810 CausalMutation CLINVAR
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.800 CausalMutation CLINVAR
FANCONI ANEMIA, COMPLEMENTATION GROUP S
0.800 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers. 28831036 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 28477318 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. 21965345 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020 2004
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Actionable, pathogenic incidental findings in 1,000 participants' exomes. 24055113 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798 2001
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer." 28265380 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798 2001
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209 2002
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. 19563646 2009
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast. 17574969 2007