|
Fanconi Anemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in PALB2 cause Fanconi anemia (FA) subtype FA-N, whereas monoallelic mutations predispose to breast, and pancreatic familial cancers.
|
30638972 |
2019 |
|
Fanconi Anemia
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
BEFREE |
We also examine the involvement of PALB2 mutations in the predisposition to cancer and the role of PALB2 in stimulating error-free DNA repair through the FA/HR pathway.
|
28858227 |
2017 |
|
Fanconi Anemia
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Fanconi Anemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our finding that the RNF8 E3 ligase has a role in recruiting FANCD2 and PALB2 also provides support for the hypothesis that the two branches of the FA-BRCA pathway are coordinated by ubiquitin signaling.
|
27277787 |
2017 |
|
Fanconi Anemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PALB2 mutations confer a moderate breast cancer risk in heterozygotes and Fanconi anemia in biallelic mutation carriers.
|
26526077 |
2016 |
|
Fanconi Anemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that a very mild form of FA-N exists arising from a hypomorphic PALB2 allele.
|
26990772 |
2016 |
|
Fanconi Anemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
As further evidence for the functional importance of the HR complex, RAD51C mutants that are associated with cancer susceptibility and FA also display decreased complex formation with PALB2.
|
24141787 |
2014 |
|
Fanconi Anemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in PALB2 cause FA (Fanconi's anaemia) subtype FA-N, a devastating inherited disorder marked by developmental abnormalities, bone marrow failure and childhood cancer susceptibility, whereas monoallelic mutations predispose to breast, ovarian and pancreatic cancer.
|
24870022 |
2014 |
|
Fanconi Anemia
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mono-allelic mutations in PALB2 increase the risk of breast, pancreatic, and other cancers, and biallelic mutations cause Fanconi anemia (FA).
|
25016020 |
2014 |
|
Fanconi Anemia
|
0.400 |
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
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations in PALB2 predispose to breast cancer and biallelic mutations cause FA.
|
23341105 |
2013 |
|
Fanconi Anemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Truncating mutations in the PALB2 gene reportedly are enriched in patients with Fanconi anemia and breast cancer in various populations.
|
21932393 |
2012 |
|
Fanconi Anemia
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
BEFREE |
The PALB2 protein is associated with breast cancer susceptibility and Fanconi anemia.
|
23038782 |
2012 |
|
Fanconi Anemia
|
0.400 |
Biomarker
|
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mono-allelic germline mutations of BRCA2 and PALB2 are risk alleles of female breast cancer and have also been reported in familial pancreatic cancer, and bi-allelic mutations cause a severe form of Fanconi anemia.
|
20582465 |
2011 |
|
Fanconi Anemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The Partner and Localizer of BRCA2 (PALB2) protein has been linked to Fanconi anemia and breast cancer predisposition.
|
21618343 |
2011 |
|
Fanconi Anemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Because PALB2 mutations can cause cancer or Fanconi anemia, our findings shed light on the mechanism of tumor suppression in humans.
|
20871616 |
2010 |
|
Fanconi Anemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
PALB2/FANCN: recombining cancer and Fanconi anemia.
|
20858716 |
2010 |
|
Fanconi Anemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
FANCD2, but not FANCJ and FANCN, requires the FA core complex for its recruitment.
|
19748364 |
2009 |
|
Fanconi Anemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification in 2002 of the Fanconi anaemia (FA) gene FANCD1 as BRCA2 and recent studies indicating that heterozygous mutations in FANCN/PALB2 and FANCJ/ BRIP1 predispose to breast cancer have emphasised an important connection between the FA and BRCA pathway.
|
18258506 |
2008 |
|
Fanconi Anemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype.
|
17200672 |
2007 |