Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
RAD6B is a major mediator of triple negative breast cancer cisplatin resistance: Regulation of translesion synthesis/Fanconi anemia crosstalk and BRCA1 independence.
|
31639439 |
2020 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
We found that MA-17 also down-regulated DNA homologous recombination and the Fanconi anemia pathway (FANCA, BRCA1, and RAD51C) in A549 cells.
|
30793218 |
2019 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
BReast Cancer Associated proteins 1 and 2 (BRCA1, -2) and Partner and Localizer of BRCA2 (PALB2) protein are tumour suppressors linked to a spectrum of malignancies, including breast cancer and Fanconi anemia.
|
31017574 |
2019 |
Fanconi Anemia
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data expand the clinical spectrum associated with biallelic BRCA1 mutations, ranging from embryonic lethality to a mild FA-like phenotype and no chromosome fragility.
|
31347298 |
2019 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS).
|
28837162 |
2018 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition.
|
29133208 |
2018 |
Fanconi Anemia
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition.
|
29133208 |
2018 |
Fanconi Anemia
|
0.600 |
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
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
We found that acquired cisplatin-resistant NSCLC-derived A549/DR cells exhibited markedly enhanced FA and HR repair pathway capacities compared to its parental A549 cells and another independent NSCLC-derived cell line, Calu-1, which possesses a moderate innate resistance to cisplatin. siRNA-mediated silencing of the FA-associated genes FANCL and RAD18 and the HR-associated genes BRCA1 and BRCA2 significantly potentiated the sensitivity of A549/DR cells to cisplatin compared to A549 and Calu-1 cells, suggesting that the acquired cisplatin resistance in A549/DR cells may be attributed to enhanced FA and HR pathway capacities responsible for ICL repair.
|
27473273 |
2016 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Surprisingly, depleting BRCA1 or FANCD2 (Fanconi anemia [FA] proteins) or BRG1, a mSWI/SNF subunit, caused HME cells to undergo spontaneous epithelial-to-mesenchymal transition (EMT) and aberrant differentiation.
|
27373334 |
2016 |
Fanconi Anemia
|
0.600 |
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
|
0.600 |
Biomarker
|
disease |
BEFREE |
Taken together, our results show that loss of Brca1 in murine BM causes hematopoietic defects similar to those seen in people with FA, which provides strong evidence that Brca1 is critical for normal hematopoiesis and that Brca1 is a bona fide FA-like gene.
|
26644450 |
2016 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Taken together, our results show that loss of Brca1 in murine BM causes hematopoietic defects similar to those seen in people with FA, which provides strong evidence that Brca1 is critical for normal hematopoiesis and that Brca1 is a bona fide FA-like gene.
|
26644450 |
2016 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in 17 genes (FANCA-FANCS) have been identified in FA patients, defining 17 complementation groups.
|
26119737 |
2015 |
Fanconi Anemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23.
|
25472942 |
2015 |
Fanconi Anemia
|
0.600 |
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
|
0.600 |
Biomarker
|
disease |
BEFREE |
Because current data exclude FANCM as an FA gene, 15 genes remain bona fide FA genes and three (FANCO, FANCR and FANCS) cause an FA like syndrome.
|
26254775 |
2015 |
Fanconi Anemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Forty-two deleterious germline mutations were identified in 21 genes of 34 patients, including 18 (18.2%) BRCA1 or BRCA2 mutations, 3 (3%) TP53 mutations, 5 (5.1%) DNA mismatch repair gene mutations, 1 (1%) CDH1 mutation, 6 (6.1%) Fanconi anemia pathway gene mutations, and 9 (9.1%) mutations in other genes.
|
25927356 |
2015 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Additionally, BRCA1 was required for efficient FA core complex foci formation.
|
26430909 |
2015 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23.
|
25472942 |
2015 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
In support of this hypothesis, the set of identified genes included known determinants of olaparib sensitivity, such as BRCA1, RAD51, and Fanconi's anemia susceptibility genes.
|
24240700 |
2014 |
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here, we show that dual incision by NER endonucleases, including XPF and XPG, promotes the S-phase accumulation of the BRCA1 and Fanconi anemia-associated DNA helicase FANCJ to sites of UV-induced damage.
|
24351291 |
2014 |
Fanconi Anemia
|
0.600 |
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 |