rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
|
26834852 |
2016 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.
|
26920070 |
2016 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
|
26296701 |
2015 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
|
25682074 |
2015 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
|
25085752 |
2014 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
|
23893897 |
2013 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.
|
21548014 |
2012 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.
|
22009639 |
2012 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
|
21719596 |
2011 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.
|
20927582 |
2011 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.
|
16825431 |
2007 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.
|
15645491 |
2005 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
|
15070707 |
2004 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families.
|
12960223 |
2003 |
rs81002899
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.
|
11185744 |
2000 |