×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
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
0.800
CausalMutation
disease
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:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
17591842
2007
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
28281021
2017
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
GeneticVariation
disease
CLINVAR
Assessment of functional effects of unclassified genetic variants.
18951449
2008
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
BEFREE
We describe twenty-nine novel BRCA1 and BRCA2 variants detected in Italian individuals suffering from hereditary breast and ovarian cancer syndrome (HBOC ).
29020660
2017
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
8554067
1996
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
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
0.800
CausalMutation
disease
CLINVAR
Mutations and polymorphic BRCA variants transmission in breast cancer familial members.
20352487
2011
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
BEFREE
Experience of risk-reducing salpingo-oophorectomy for a BRCA1 mutation carrier and establishment of a system performing a preventive surgery for hereditary breast and ovarian cancer syndrome in Japan: our challenges for the future.
23487443
2013
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation.
14513821
2003
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
21138478
2011
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.
26360800
2016
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland.
12673801
2003
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
BEFREE
The aim of this study was to develop an NGS-based workflow for routine diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS ), to improve genetic testing for BRCA1 and BRCA2.
23249957
2013
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.
19706752
2009
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
GeneticVariation
disease
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:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.
25628955
2015
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
BEFREE
Other hereditary disorders predisposing to PC include Peutz-Jeghers syndrome, due to the STK11 mutation, familial pancreatitis due to the cationic trypsinogen gene, site-specific familial pancreatic cancer which may be due to the 4q32-34 mutation, hereditary breast-ovarian cancer (HBOC) syndrome that is due to BRCA2 and possibly some families with HBOC that is due to BRCA1 , familial adenomatous polyposis due to the ATP gene, and ataxia telangiectasia due to the ATM germline mutation.
15516847
2004
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
Pyrimidine base damage is increased in women with BRCA mutations.
23583677
2013
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
GeneticVariation
disease
CLINVAR
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
21702907
2011
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
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:
675
Gene Symbol:
BRCA2
BRCA2
0.800
GeneticVariation
disease
CLINVAR
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.
24916970
2015
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
GeneticVariation
disease
CLINVAR
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
21719596
2011
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
23983145
2013