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 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline RAD51C mutations in ovarian cancer susceptibility.
|
22725699 |
2013 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
Biomarker
|
disease |
BEFREE |
The RAD51 paralog RAD51C has been identified as a breast and ovarian cancer susceptibility gene.
|
25292178 |
2015 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
Biomarker
|
disease |
BEFREE |
RAD51C has been identified as a potential tumor suppressor and a breast and ovarian cancer susceptibility gene.
|
27753535 |
2016 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, RAD51C mutations were identified in families with breast and ovarian cancer.
|
21822267 |
2011 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed complete sequencing of RAD51C in germline DNA of 286 female breast and/or ovarian cancer cases with a family history of breast and ovarian cancers, who had previously tested negative for mutations in BRCA1 and BRCA2.
|
21980511 |
2011 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Biallelic RAD51C mutations cause Fanconi anemia, and monoallelic mutations predispose women to breast and ovarian cancer.
|
24800917 |
2014 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thirty-one percent of ovarian carcinomas had a deleterious germline (24%) and/or somatic (9%) mutation in one or more of the 13 homologous recombination genes: BRCA1, BRCA2, ATM, BARD1, BRIP1, CHEK1, CHEK2, FAM175A, MRE11A, NBN, PALB2, RAD51C, and RAD51D.
|
24240112 |
2014 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer.
|
20697805 |
2010 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We evaluated 11 genes associated with ovarian carcinoma (BARD1, BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51D, and RAD51C) and additional candidate genes in DNA repair (ATM, BAP1, CHEK2, MRE11A, NBN, PTEN, TP53).
|
26718727 |
2016 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Whereas a second study reports monoallelic mutation in RAD51C associated with increased risk of breast and ovarian cancer.
|
20952512 |
2010 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have screened RAD51C sequence variants by HRMA in 492 breast cancer patients with family history of breast and/or ovarian cancer that were previously tested negative for BRCA1/2.
|
21537932 |
2011 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In 2010 an important finding was published showing that heterozygous mutations in RAD51C were highly penetrant and were able to confer an increased risk for breast and ovarian cancers.
|
26406419 |
2015 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in RAD51C contribute marginally to breast and ovarian cancer susceptibility in ethnically diverse, Jewish high risk families.
|
23117857 |
2012 |
Malignant neoplasm of ovary
|
0.700 |
Biomarker
|
disease |
BEFREE |
RAD51C is primarily an ovarian cancer susceptibility gene.
|
25470109 |
2015 |
Malignant neoplasm of ovary
|
0.700 |
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 |
Malignant neoplasm of ovary
|
0.700 |
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 |