|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
|
29297111 |
2018 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
|
29446198 |
2018 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
|
28973083 |
2017 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
|
28724667 |
2017 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
|
28541631 |
2017 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.
|
28294317 |
2017 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
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 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis.
|
27082205 |
2016 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.
|
24916970 |
2015 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.
|
25782689 |
2015 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.
|
25556971 |
2015 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14.
|
25395318 |
2014 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.
|
22486713 |
2012 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
|
22505045 |
2012 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
|
22505045 |
2012 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.
|
21548014 |
2012 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
|
21719596 |
2011 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Two BRCA1/2 founder mutations in Jews of Sephardic origin.
|
21063910 |
2011 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.
|
20960228 |
2011 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
|
20215541 |
2010 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
|
18489799 |
2008 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional assays for classification of BRCA2 variants of uncertain significance.
|
18451181 |
2008 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.
|
16792514 |
2006 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.
|
16115142 |
2005 |
|
rs28897743
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.
|
15026808 |
2004 |