Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Malignant neoplasm of ovary
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
Malignant neoplasm of ovary
|
0.800 |
GenomicAlterations
|
disease |
CGI |
|
|
|
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
CTD_human |
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.
|
17688236 |
2007 |
Malignant neoplasm of ovary
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Exclusively, studies assessing epithelial OC or invasive epithelial OC with full-gene screening of both BRCA1 and BRCA2 mutations were evaluated.
|
26809252 |
2016 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
|
22798144 |
2012 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
About 1% of the BC and OC Spanish families negative for BRCA1/BRCA2 are carriers of RAD51D mutations.
|
24130102 |
2014 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 genes are responsible for 5-10% of breast and ovarian cancer cases.
|
16783967 |
2006 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited or acquired defects in HR, such as mutations in breast cancer susceptibility protein-1 (BRCA1) or BRCA2, predispose to cancer, including breast and ovarian cancers.
|
29145865 |
2017 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
This supports the role of methylation in BRCA2 contributing to the pathogenesis of sporadic ovarian cancer.
|
12124354 |
2002 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Individuals carrying BRCA2 mutations are predisposed to breast and ovarian cancers.
|
11239456 |
2001 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 mutations were found in 8% (17 cases) and 3% (7 cases) of the ovarian cancer patients, respectively.
|
26541979 |
2016 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Women carrying a pathogenic mutation in either BRCA1 or BRCA2 have a major risk of developing breast and/or ovarian cancer.
|
19405878 |
2009 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also used this data set to estimate the age-specific risks for breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.
|
16417652 |
2006 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.
|
25556971 |
2015 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening for the 185delAG and the 5382insC mutations in BRCA1 and the 6174delT mutation in BRCA2 was performed on DNA samples from either subjects affected by breast or ovarian cancer or obligate gene carriers.
|
9475087 |
1998 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in BRCA1 and BRCA2 are responsible for an inherited predisposition of breast and ovarian cancer.
|
16825125 |
2006 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our observations suggest that the total mutation burden coupled with BRCA1 or BRCA2 mutations in ovarian cancer is a genomic marker of prognosis and predictor of treatment response.
|
24265793 |
2013 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Bilateral prophylactic salpingo-oophorectomy (BPSO) is used widely used to reduce the risk of breast and ovarian cancer in women with BRCA1 and BRCA2 mutations.
|
16510331 |
2006 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The discovery that mutations in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancers has radically transformed our understanding of the genetic basis of breast cancer, leading to improved management of high-risk women.
|
19088015 |
2008 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of BRCA1 or BRCA2 mutations among case subjects with breast cancer was 6.7% (95% confidence interval [CI] 4.1%-9.4%), and that among case subjects with ovarian cancer was 15.8% (95% CI 9.2%-22.4%).
|
12181777 |
2002 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overall, 178/2192 (8.1%) evaluable OC women showed pathogenic germline mutations in BRCA genes (84 BRCA1;94 BRCA2).
|
31253107 |
2019 |