|
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 |
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 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The increased risk for ovarian cancer in BRCA2 related families were limited to the cases leading to mutation analysis.
|
10615237 |
1999 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Research on the utilization of genetic testing services for mutations in BRCA1 and BRCA2 has focused on women with a strong family history of breast and ovarian cancer.
|
15598789 |
2004 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers.
|
12923317 |
2003 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus, restoration of BRCA2 due to secondary BRCA2 mutation is involved in acquired drug resistance of BRCA2-mutated ovarian carcinoma.
|
19654294 |
2009 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
|
22425665 |
2012 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The familial breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2 have been the subject of extensive functional analysis studies since their cloning.
|
10819535 |
1998 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified three novel BRCA2 mutations (3058delA, 6024delTA, and 4147delG) in the ovarian cancer cluster region (OCCR) and one already known (2024del5) germline BRCA2 gene mutation in five different breast cancer families.
|
11754111 |
2002 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Twenty percent of individuals with a strong family and/or personal history of breast and ovarian cancer carry a deleterious mutation in BRCA1 or BRCA2.
|
18824701 |
2008 |