BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation BEFREE We report biallelic BRCA1 mutations c.181T > G (p.Cys61Gly) and c.5096G > A (p.Arg1699Gln) in a woman with breast cancer diagnosed at the age of 30 years. 31347298 2019
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation BEFREE Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T). 24528374 2015
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402 2014
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376 2014
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation BEFREE While the Cys61Gly mutation appeared underrepresented in ovarian cancer as compared with breast cancer cases from the same population (p = 0.01), the 4153delA mutation made a higher contribution to ovarian cancer than to breast cancer (p < 0.01). 20569256 2010
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation BEFREE To estimate the hereditary proportion of breast cancer in Belarus, we sought the presence of any of three founder mutations in BRCA1 (4153delA, 5382insC and C61G) in 500 unselected cases of breast cancer. 20507347 2010
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation BEFREE We identified a founder mutation (4153delA, 5382insC or C61G) in 6% of 235 unselected cases of breast cancer and in 19% of 43 unselected cases of ovarian cancer. 20345474 2010
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation BEFREE The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03). 16227521 2006
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation BEFREE The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) than were either of the truncating BRCA1 mutations 4153delA (OR=2.0) and 5382insC (OR=6.2). 15980987 2005
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.870 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
C 0.870 CausalMutation CLINVAR
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376 2014
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402 2014
dbSNP: rs55770810
rs55770810
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402 2014
dbSNP: rs55770810
rs55770810
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376 2014
dbSNP: rs55770810
rs55770810
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
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
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008
dbSNP: rs55770810
rs55770810
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
dbSNP: rs55770810
rs55770810
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs55770810
rs55770810
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation BEFREE Two mutated forms of BRCA1, a missense (A1708E) and a nonsense (Y1853X) that have been identified in familial breast cancers, associated with Nmi and c-Myc but failed to suppress c-Myc-induced hTERT promoter activity. 11916966 2002