×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
Biomarker
GENOMICS_ENGLAND
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
Biomarker
GENOMICS_ENGLAND
Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.
29661970
2018
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
GermlineCausalMutation
ORPHANET
Hereditary ovarian cancer.
16112002
2005
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
Biomarker
CTD_human
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden.
8644702
1996
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
Biomarker
CTD_human
Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ).
21597964
2011
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
GeneticVariation
CLINVAR
BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.
9333265
1997
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.
17902052
2008
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
8554067
1996
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
17924331
2007
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Mutations and polymorphic BRCA variants transmission in breast cancer familial members.
20352487
2011
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation.
14513821
2003
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland.
12673801
2003
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.
19706752
2009
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
22535016
2012
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
GeneticVariation
CLINVAR
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.
22855649
2012
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.
12815598
2003
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer.
18512148
2009
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Genetic diagnosis of familial breast cancer using clonal sequencing.
20127978
2010
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics.
9663595
1998
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
12672316
2003
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.
22144684
2012
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
18489799
2008
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
27616075
2017
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
27433846
2016
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
0.800
CausalMutation
CLINVAR
Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.
19949876
2010