|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anaemia (FA) comprises a group of autosomal recessive disorders resulting from mutations in one of eight genes (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF and FANCG).
|
12001267 |
2002 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anemia (FA) is a genetically complex chromosomal instability disorder involving seven or more genes, one of which is BRCA2.
|
12427531 |
2002 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA,C,D2,E,F,G and BRCA2).
|
14749703 |
2004 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Fanconi anemia (FA) and cells lacking functional BRCA1 and BRCA2 proteins are hypersensitive to interstrand crosslinking (ICL) agents and show increased numbers of chromosomal breaks and radials.
|
15084315 |
2004 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Fanconi anemia (FA) results from mutations in a group of genes whose products, including BRCA2 and BACH1/BRIP1, are known to function in one common pathway (the FA-BRCA pathway) to guard genome integrity, especially when challenged by DNA crosslinking agents, such as Cisplatin and mitomycin C (MMC).
|
17106252 |
2006 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
|
17200672 |
2007 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Fanconi anaemia (FA) has recently become an attractive model to study breast cancer susceptibility (BRCA) genes, as three FA genes, FANCD1, FANCN and FANCJ, are identical to the BRCA genes BRCA2, PALB2 and BRIP1.
|
17768402 |
2007 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
BRCA2 mutations predispose carriers to breast and ovarian cancer and can also cause other cancers and Fanconi anemia.
|
16793542 |
2006 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
|
21719596 |
2011 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
|
21719596 |
2011 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
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 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Also, homozygosity for the common cancer-associated gene, BRCA2, has been found to cause a rare subtype of Fanconi anemia.
|
16470156 |
2006 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although FA-B patient HSC230 was previously reported to also have biallelic BRCA2 mutations, we found normal Rad51 foci formation in cells from this patient, consistent with the recent identification of an X-linked gene being mutated in four unrelated FA-B patients.
|
16154163 |
2006 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although this report is based in a single family, it suggests that CRCs may be part of the tumour spectrum associated with FANCD1/BRCA2 biallelic mutations and that the presence of such mutations should be considered in families with CRCs, even in the absence of cardinal features of FA.
|
24301060 |
2014 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
As BRCA2 also protects stalled replication forks and is the FANCD1 member of the Fanconi Anemia (FA) pathway, we investigated the FA role in R loop-dependent genome instability.
|
26584049 |
2015 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Bi-allelic germline mutations of the Fanconi anemia (FA) genes, PALB2/FANCN and BRCA2/FANCD1, have been reported in a few Wilms tumor (WT) patients with an atypical FA phenotype.
|
20589654 |
2010 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic mutations in BRCA2 are associated with a rare and highly cancer-prone form of FA, and the DNA helicase BRIP1 (formerly BACH1) is mutated in FA group J.
|
16998502 |
2006 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biallelic BRCA2 mutations were shown recently to cause FA-D1.
|
14695169 |
2003 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biallelic BRCA2-mutations can cause Fanconi anemia and are found in approximately 7% of pancreatic cancers.
|
15277238 |
2004 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies.
|
17200671 |
2007 |
|
Fanconi Anemia
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
Biallelic inactivation of BRCA2 in Fanconi anemia has been previously described in only 11 patients with medulloblastoma in the literature to date.
|
19530235 |
2009 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in BRCA2/FANCD1 were recently recognized as a rare cause of Fanconi anemia (FA).
|
15004464 |
2003 |