FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers.
|
29278735 |
2018 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
|
20400964 |
2010 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
|
26740214 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
RAD51C is a susceptibility gene for ovarian cancer.
|
21616938 |
2011 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.
|
27328445 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).
|
24315737 |
2014 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.
|
22167183 |
2012 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
|
26822949 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
|
26270727 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
|
20400963 |
2010 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
|
26261251 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Germline RAD51C mutations confer susceptibility to ovarian cancer.
|
22538716 |
2012 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.
|
26687385 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutation in the RAD51B gene confers predisposition to breast cancer.
|
24139550 |
2013 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
|
26824983 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
|
26057125 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
|
27616075 |
2017 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
|
20400964 |
2010 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Identification of functional domains in the RAD51L2 (RAD51C) protein and its requirement for gene conversion.
|
12966089 |
2003 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.
|
24141787 |
2014 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
|
25452441 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.
|
22451500 |
2012 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
|
26822949 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
|
28905878 |
2017 |