|
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 |
GeneticVariation
|
disease |
BEFREE |
Similar to BRCA2, germline mutations in PALB2 have been shown to predispose to Fanconi anaemia as well as pancreatic and breast cancer.
|
24949998 |
2014 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This rare disease became well known in the genetic counseling community in 2002, when it was identified that biallelic mutations in BRCA2 can cause FA.
|
25236480 |
2014 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This mutation may account for the FA phenotype in a patient originally reported to have biallelic mutations in BRCA2.
|
24395671 |
2014 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interleukin-2-induced graft-versus-leukemia for the treatment of AML in a BRCA2 Fanconi anemia patient.
|
23619121 |
2014 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
|
25085752 |
2014 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The apparent discrepancy between expected and observed incidence of BRCA2 mutation-associated FA in high-frequency carrier populations has important implications for the genetic counselling of couples with recurrent miscarriages from high-risk populations.
|
24259538 |
2014 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
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 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).
|
23779253 |
2013 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Deleterious mutations in few genes involved in the Fanconi complex are responsible for Fanconi anemia at the homozygous state and breast cancer (BC) susceptibility at the heterozygous state (BRCA2, PALB2, BRIP1).
|
22725699 |
2013 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Germ-line mutations in PALB2 lead to a familial predisposition to breast and pancreatic cancer or to Fanconi Anemia subtype N. PALB2 performs its tumor suppressor role, at least in part, by supporting homologous recombination-type double strand break repair (HR-DSBR) through physical interactions with BRCA1, BRCA2, and RAD51.
|
23657012 |
2013 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Importantly, across six different PDA cell lines, two with defects in the Fanconi anemia/BRCA2 pathway (Hs766T and Capan-1), mitoxantrone is 40- to 20,000-fold more potent than GEM, with increased endogenous USP11 mRNA levels associated with increased sensitivity to mitoxantrone.
|
23696131 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
Using targeted capture and massively parallel genomic sequencing, 151 subjects with USC were assessed for germline mutations in 30 tumor suppressor genes, including BRCA1 (breast cancer 1, early onset), BRCA2, the DNA mismatch repair genes (MLH1 [mutL homolog 1], MSH2 [mutS homolog 2], MSH6, PMS2 [postmeiotic segregation increased 2]), TP53 (tumor protein p53), and 10 other genes in the Fanconi anemia-BRCA pathway.
|
22811390 |
2013 |
|
Fanconi Anemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Chromosome breakage, G2 arrest and biochemical analyses indicated a FA pathway defect downstream of FancD2 associated with reduced levels of BRCA2.
|
23435420 |
2013 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Some of the genes causing the Fanconi anemia (FA) syndrome, such as BRCA2, BRIP1, PALB2, and RAD51C, are associated with high or moderate risk of developing breast cancer.
|
22383991 |
2012 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
In contrast, several population doublings after exposure to a low dose of only 0.5 Gy chromosomal instability, manifested as gross chromosomal rearrangements and aneuploidy, had developed in BRCA2-deficient FA fibroblasts and in some - but not all - BRCA heterozygous fibroblasts.
|
22788243 |
2012 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.
|
21548014 |
2012 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report clinical and molecular features of three patients with FA associated with FANCD1/BRCA2 mutations, including two novel mutations, and discuss treatment of malignancy and associated side effects in this particularly vulnerable group.
|
21548014 |
2012 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genes mutated in patients with Fanconi anemia (FA) interact with the DNA repair genes BRCA1 and BRCA2/FANCD1 to suppress tumorigenesis, but the molecular functions ascribed to them cannot fully explain all of their cellular roles.
|
22789542 |
2012 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Crosslinking agents and ionizing radiation induce damage in cancer cells that requires the FA/BRCA pathway to be resolved; thus cancers that are deficient in BRCA1, BRCA2, or any other component of the FA/BRCA pathway are hypersensitive to these agents.
|
22683426 |
2012 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anemia (FA) associated genes [FANCA, -B, -C, FANCD1(BRCA2), -D2, -E, -F, -G, -I, -L, -M, FANCN (PALB2), FANCJ(BRIP1) and FA-linked BRCA1] encode proteins of DNA damage response pathways mutated in FA patients.
|
21567085 |
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 |
Mild mutations in BRCA2 (FANCD1) cause Fanconi anemia (FA) when homozygous, while severe mutations cause common cancers including breast, ovarian, and prostate cancers when heterozygous.
|
21483806 |
2011 |