Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
|
18628483 |
2008 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.
|
19127258 |
2009 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.
|
26790966 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
|
16153896 |
2005 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.
|
20159562 |
2010 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability.
|
25583461 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
|
21409391 |
2011 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.
|
26911350 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.
|
20616022 |
2010 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Discovering moderate-risk breast cancer susceptibility genes.
|
20346647 |
2010 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort.
|
19763819 |
2010 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort.
|
19763819 |
2010 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
|
28152038 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response.
|
22792074 |
2012 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
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 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Fanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia.
|
27427815 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
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 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
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 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
|
24556621 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
|
22692731 |
2012 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Germline Variants of Prostate Cancer in Japanese Families.
|
27701467 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
|
21345144 |
2011 |