FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J.
|
17033622 |
2006 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations.
|
24573678 |
2014 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ.
|
16116423 |
2005 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
Biomarker
|
disease |
BEFREE |
FANCJ (BACH1) helicase forms DNA damage inducible foci with replication protein A and interacts physically and functionally with the single-stranded DNA-binding protein.
|
17596542 |
2007 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Recent evidence demonstrates that a clinically relevant patient missense mutation in Fanconi Anemia Complementation Group J exerts detrimental effects on the biochemical activities of the FANCJ helicase, and these molecular defects are responsible for aberrant genomic stability and a poor DNA damage response.
|
20980836 |
2010 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
FANCJ mutations are genetically linked to the Fanconi anemia complementation group J and predispose individuals to breast cancer.
|
19419957 |
2009 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
|
18628483 |
2008 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
|
26976419 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
|
25186627 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
|
16153896 |
2005 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.
|
19127258 |
2009 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
|
24556621 |
2014 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
|
21345144 |
2011 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Germline Variants of Prostate Cancer in Japanese Families.
|
27701467 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.
|
20639400 |
2010 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
|
27443514 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
|
26921362 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
|
25186627 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
|
28961279 |
2017 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.
|
16973432 |
2006 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
|
26786923 |
2016 |