rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
|
26656232 |
2016 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia.
|
24742220 |
2014 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
|
23479189 |
2013 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel.
|
22399190 |
2012 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.
|
22044689 |
2012 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.
|
20960228 |
2011 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Two BRCA1/2 founder mutations in Jews of Sephardic origin.
|
21063910 |
2011 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
|
21520273 |
2011 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
|
21702907 |
2011 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.
|
19404736 |
2010 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
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 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
|
20516115 |
2010 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional impact of missense variants in BRCA1 predicted by supervised learning.
|
17305420 |
2007 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
|
18036263 |
2007 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia.
|
17080309 |
2007 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
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 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).
|
16758124 |
2006 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.
|
15923272 |
2006 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
|
16267036 |
2005 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
|
12955716 |
2003 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.
|
11802208 |
2002 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A novel tricomplex of BRCA1, Nmi, and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene (hTERT) promoter activity in breast cancer.
|
11916966 |
2002 |
rs28897696
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.
|
11157798 |
2001 |