|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Western blot was conducted to determine the expression levels of the downstream proteins of the Fanconi anemia (FA) pathway, FAN1 and BRCA2.
|
31360198 |
2019 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
BRCA1, BRCA2 and other double strand break (DSB) repair Fanconi anaemia (FA)/BRCA pathway genes were prominent contributors to this classification.
|
31422212 |
2019 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Homologous recombination factors such as RAD51, BRCA1, and BRCA2, along with components of the Fanconi Anemia pathway, are now known to be crucial for stabilizing stalled replication forks and preventing nascent strand degradation.
|
30514768 |
2018 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Monoallelic inactivation of some FA genes, such as FA complementation group D1 (FANCD1; also known as the breast and ovarian cancer susceptibility gene BRCA2), leads to adult-onset cancer predisposition but does not cause FA, and somatic mutations in FA genes occur in cancers in the general population.
|
29376519 |
2018 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Many had mutations in Fanconi anemia complex genes [BRCA2 (3 participants), FANCF, FANCM].
|
28687971 |
2018 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The identification of breast cancer susceptibility genes (for example, BRCA1/FANCS and BRCA2/FANCD1) as being major players in the FA pathway has led to a surge in molecular studies, resulting in the concept of the FA-BRCA pathway.
|
28631178 |
2017 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
In support of this, R-loops accumulate in cells depleted of the BRCA1, BRCA2 or the Fanconi anemia (FA) DNA repair factors, indicating that they play an active role in R-loop dissolution.
|
28653981 |
2017 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Carrier status of mutations in BRCA2 is associated with familial breast and ovarian cancer, while bi-allelic BRCA2 mutations can cause Fanconi anemia (FA), a cancer predisposition syndrome with cellular cross-linker hypersensitivity.
|
28617445 |
2017 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We present two cases of black South African patients with FA diagnosed with biallelic BRCA2 mutations and discuss the phenotypic consequences and implications for them and their families.
|
28185119 |
2017 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We also find that 18 VOUS BRCA1 and BRCA2 variants that are listed in BRCA Exchange are present at least once in the homozygous state in patients who lack features of Fanconi anemia.
|
27884173 |
2016 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Copy number alterations and multiple oncogenic amplifications may be secondary to inherent chromosomal instability and this raises the question of what role BRCA2 may play in the development of GBM in children without FA.
|
26740091 |
2016 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
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 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, bi-allelic mutations in BRCA2 are linked to FA, a rare chromosome instability syndrome characterized by aplastic anemia in children as well as susceptibility to leukemia and cancer.
|
27530658 |
2016 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lung adenocarcinomas in both male and female patients were associated with (a) genotypic polymorphisms of FANCC and FANCD1; (b) a combined effect of harboring a higher number of high-risk genotypes and smoking/passive smoking; (c) specific interactions of multiple genes, proteins encoded by which have been known to work jointly within the FA pathway.
|
26842001 |
2016 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this review, we provide an overview of the basic molecular mechanisms governing HR and DNA crosslink repair, highlighting BRCA2, and the intriguing relationship between HBOC and FA.
|
27550963 |
2016 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
|
26834852 |
2016 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The breast cancer gene, BRCA2, is essential for viability, yet patients with Fanconi anemia-D1 subtype are born alive with biallelic mutations in this gene.
|
26920070 |
2016 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
|
25682074 |
2015 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Monoallelic mutations in 6 FA associated genes (FANCD1, FANCJ, FANCM, FANCN, FANCO and FANCS) predispose to breast and ovarian cancer.
|
26254775 |
2015 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival.
|
25243787 |
2015 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, including homologous recombination in which BRCA1 and BRCA2 play important roles, we investigated whether this pathway harbors other predictors of PARP inhibitor sensitivity.
|
25583207 |
2015 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in downstream Fanconi anemia (FA) pathway genes, BRCA2, PALB2, BRIP1 and RAD51C, explain part of the hereditary breast cancer susceptibility, but the contribution of other FA genes has remained questionable.
|
24989076 |
2015 |