rs81002899
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
|
26834852 |
2016 |
rs81002899
|
|
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
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs81002899
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
|
25682074 |
2015 |
rs81002899
|
|
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
|
|
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
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.
|
21548014 |
2012 |
rs81002899
|
|
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
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.
|
16825431 |
2007 |
rs81002899
|
|
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
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
|
15070707 |
2004 |
rs81002899
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.
|
11185744 |
2000 |
rs28897746
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also describe for the first time the germline mutation in BRCA2 c.8057T > C resulting in p.Leu2686Pro in our patient with confirmed FA.
|
26740091 |
2016 |
rs786202344
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The atypical FA phenotype observed within this family was probably explained by the residual amount of BRCA2 with the point mutation c.7802A>G in the patients harbouring the biallelic FANCD1/BRCA2 mutations.
|
24301060 |
2014 |
rs11571707
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history.The tumor was not available for study.
|
19851859 |
2010 |
rs80358638
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X.
|
14559878 |
2003 |
rs80359065
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Remarkably, FA-AML1 cells appeared to lack the characteristic cellular FA phenotype, i.e., a hypersensitivity to growth inhibition and chromosomal breakage by the cross-linking agent mitomycin C. Genomic DNA from the patient showed biallelic mutations [8415G>T (K2729N)and 8732C>A (S2835STOP)] in the breast cancer susceptibility gene FANCD1/BRCA2 [N. Howlett et al., Science (Wash. DC), 297: 606-609, 2002].
|
12750298 |
2003 |
rs80359130
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Remarkably, FA-AML1 cells appeared to lack the characteristic cellular FA phenotype, i.e., a hypersensitivity to growth inhibition and chromosomal breakage by the cross-linking agent mitomycin C. Genomic DNA from the patient showed biallelic mutations [8415G>T (K2729N)and 8732C>A (S2835STOP)] in the breast cancer susceptibility gene FANCD1/BRCA2 [N. Howlett et al., Science (Wash. DC), 297: 606-609, 2002].
|
12750298 |
2003 |
rs80359183
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One kindred, of Ashkenazi Jewish ancestry, had five members who were diagnosed with breast cancer and two cousins who were BRCA2*6174delT/C3069X compound heterozygotes and had Fanconi anemia and brain tumors.
|
14559878 |
2003 |