|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
|
28905878 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
|
27622768 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
|
27913932 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.
|
26848151 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.
|
25292178 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
|
26261251 |
2015 |