Carcinoma, Ovarian Epithelial
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
RAD51C c.-13_14del27 was observed in one familial breast cancer case and c.774delT in one unselected ovarian cancer case, thus confirming that RAD51C mutations are implicated in breast and ovarian cancer predisposition, although their overall frequency seems to be low.
|
21750962 |
2011 |
Carcinoma, Ovarian Epithelial
|
0.200 |
Biomarker
|
disease |
BEFREE |
RAD51C is primarily an ovarian cancer susceptibility gene.
|
25470109 |
2015 |
Carcinoma, Ovarian Epithelial
|
0.200 |
Biomarker
|
disease |
BEFREE |
RAD51C has been identified as a potential tumor suppressor and a breast and ovarian cancer susceptibility gene.
|
27753535 |
2016 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
|
31782267 |
2020 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although the cumulative frequency of RAD51C and RAD51D truncating mutations in our patients was lower than that of the BRCA1 and BRCA2 genes, it may explain OC susceptibility in approximately 3% of high-risk OC patients.
|
26057125 |
2015 |
Carcinoma, Ovarian Epithelial
|
0.200 |
Biomarker
|
disease |
BEFREE |
An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/FANCO and link the FA pathway to inherited breast and ovarian cancer.
|
22829014 |
2012 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Biallelic RAD51C mutations cause Fanconi anemia, and monoallelic mutations predispose women to breast and ovarian cancer.
|
24800917 |
2014 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical characteristics and outcomes of patients with BRCA1 or RAD51C methylated versus mutated ovarian carcinoma.
|
29233532 |
2018 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Deleterious and missense mutations of RAD51C have recently been suggested to modulate the individual susceptibility to hereditary breast and ovarian cancer and unselected ovarian cancer, but not unselected breast cancer (BrC).
|
25343521 |
2014 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Deleterious mutations in the RAD51C gene, which encodes a DNA double-strand break repair protein, have been reported to confer high-penetrance susceptibility to both breast and ovarian cancer.
|
22476429 |
2012 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Despite a high prevalence of deleterious missense variants, most studies of RAD51C ovarian cancer susceptibility gene only provide in silico pathogenicity predictions of missense changes.
|
28829762 |
2017 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline RAD51C mutations in ovarian cancer susceptibility.
|
22725699 |
2013 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in RAD51C contribute marginally to breast and ovarian cancer susceptibility in ethnically diverse, Jewish high risk families.
|
23117857 |
2012 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic pathogenic mutations in RAD51C that confer an increased risk for breast and ovarian cancer.
|
20400964 |
2010 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the Finnish population, we have identified two founder mutations in RAD51C that increase the risk of ovarian cancer but not breast cancer in the absence of ovarian cancer.
|
23176254 |
2012 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function variants in RAD51C are associated with familial ovarian cancer, but its role in hereditary breast cancer remains unclear.
|
30949688 |
2019 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our data confirm a consistent but low frequency (2/335 families) of inactivating RAD51C mutations among families with a history of both breast and ovarian cancer and an absence of mutations among breast cancer only families (0/1,053 families).
|
21990120 |
2012 |
Carcinoma, Ovarian Epithelial
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our results support that RAD51C is a rare breast and ovarian cancer susceptibility gene and may contribute to a small fraction of families including breast and ovarian cancer cases and families with only breast cancer.
|
25086635 |
2014 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Overall, pathogenic RAD51C mutations were identified in 0.5 % of Danish families with increased risk of hereditary breast and/or ovarian cancer.
|
26740214 |
2016 |
Carcinoma, Ovarian Epithelial
|
0.200 |
Biomarker
|
disease |
BEFREE |
Paired analysis of tumour-derived versus blood-derived DNA to determine the prevalence of deleterious somatic variants in OC predisposition genes (<i>ATM</i>, <i>BRCA1/2, BRIP1</i>, <i>MSH2/6</i>, <i>PALB2</i>, <i>RAD51C/D</i> and <i>TP53</i>) and the <i>PIK3CA</i> and <i>PTEN</i> genes in individuals with OC (AGO-TR1 study, NCT02222883).
|
30979843 |
2019 |
Carcinoma, Ovarian Epithelial
|
0.200 |
Biomarker
|
disease |
BEFREE |
Population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing can prevent 1.86%/1.91% of BC and 3.2%/4.88% of OC in UK/US women: 657/655 OC cases and 2420/2386 BC cases prevented per million.
|
29361001 |
2018 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, RAD51C mutations were identified in families with breast and ovarian cancer.
|
21822267 |
2011 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer.
|
20697805 |
2010 |
Carcinoma, Ovarian Epithelial
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The analysis also showed a substantial difference in the profile of genes contributing to either BC or OC risk, including genes specifically associated with a high risk of OC but not BC (e.g., RAD51C, and RAD51D).
|
30733081 |
2019 |