Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
Comprehensive Profiling of BRCA1 and BRCA2 Variants in Breast and Ovarian Cancer in Chinese Patients.
|
31825140 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Olaparib as maintenance therapy in patients with BRCA 1-2 mutated recurrent platinum sensitive ovarian cancer: Real world data and post progression outcome.
|
31699415 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A simultaneous detection of germline and somatic mutations in ovarian cancer (OC) using tumor materials is considered to be cost-effective for <i>BRCA1/2</i> testing.
|
31788999 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
Germline mutations (eg, BRCA1/2) have prognostic and treatment implications for ovarian cancer (OVCA) patients.
|
31600840 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, 21 BRCA1 and BRCA2 pathogenic variants were detected in 30 patients and BRCA1/2 mutations were significantly associated with a family history of breast/ovarian cancer.
|
31706072 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analyses performed under logistic model, linear mixed model, and model incorporating correlations identified nine significant associations with three gynecologic diseases including four novel findings (rs79219469:C > T, LINC02183, P = 3.3 × 10<sup>-8</sup> and rs567534295:C > T, BRCA1, P = 3.1 × 10<sup>-8</sup> with OC, rs150806792:C > T, INS-IGF2, P = 4.9 × 10<sup>-8</sup> and rs140991990:A > G, SOX9, P = 3.3 × 10<sup>-8</sup> with UCC).
|
31488892 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry for the detection of BRCA1 and BRCA2 proteins in patients with ovarian cancer: a systematic review.
|
31719105 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This consensus guide represents a collection of technical recommendations to address the detection of BRCA1/2 mutations in the molecular diagnostic testing strategy for OC.
|
31797087 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
BRCA1-driven OCs demonstrate the plasticity of BRCA1 status during the treatment course.
|
31693165 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.
|
31076742 |
2020 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline BRCA 1/2 mutations are associated with a higher hematologic toxicity in patients with ovarian cancer who underwent platinum-based chemotherapy.
|
31079832 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The combined analyses revealed that deleterious germline variants in established OC predisposition genes (all: 125/473, 26.4%; <i>BRCA1/2</i>: 97/473, 20.5%), deleterious somatic variants in established OC predisposition genes excluding <i>TP53</i> (all: 39/473, 8.2%; <i>BRCA1/2</i>: 30/473, 6.3%) and promoter methylation (all: 67/473, 14.2%; <i>BRCA1</i>: 57/473, 12.1%; <i>RAD51C</i>: 10/473, 2.1%; <i>PALB2</i>: 0/473) were mutually exclusive, with a few exceptions.
|
30979843 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overall, LGRs accounted for 16.1% (5/31) of BRCA1 pathogenic variants, and were detected in 2.3% (5/218) of all FBOC patients.
|
31174498 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Patients with BC and OC and brain metastases have a frequent loss of BRCA1 expression.
|
30822630 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While <i>BRCA1/2</i> mutations are well-established risk factors for breast and ovarian cancers, their impact on other cancers is less understood.
|
31227566 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
NGS-based multiple gene panel resequencing in combination with a high resolution CGH-array was used to identify genetic risk factors for hereditary breast and/or ovarian cancer in 237 high risk patients who were previously tested negative for pathogenic BRCA1/2 variants.
|
30426508 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Surveillance of patients with mutations in BRCA 1/2 is done by yearly mammography and breast MRI and by transvaginal ultrasonography and serum CA-125 levels every 6-12 months for ovarian cancer.
|
30358186 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
Since more than two decades Risk-reducing salpingo-oophorectomy (RRSO) is recommended and widely accepted by BRCA1/2 carriers as a method reducing ovarian cancer risk and improving survival rate.
|
30918533 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Women who carry a pathogenic mutation in either a BRCA1 DNA repair associated or BRCA2 DNA repair associated (BRCA1 or BRCA2) gene have a high lifetime risk of developing breast and tubo-ovarian cancer.
|
31595976 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
|
30135485 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
MR estimates were calculated using inverse-variance weighted methods from 1044 cases and 1172 controls in a Chinese genome-wide association study and validated by the Ovarian Cancer Association Consortium and Consortium of Investigators of Modifiers of BRCA1/2 studies with 29 396 cases and 68 502 controls of European ancestry.
|
31145551 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
BRCA1 or BRCA2 inactivation drives breast and ovarian cancer but also creates vulnerability to poly(ADP-ribose) polymerase (PARP) inhibitors.
|
30686591 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standard clinical practice and is helping countless women better understand and manage their heritable risk of breast and ovarian cancer.
|
31294896 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A comparison of ovarian cancer mortality in women with BRCA1 mutations undergoing annual ultrasound screening or preventive oophorectomy.
|
31500890 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Carriers of mutations of breast cancer gene 1 and/or 2 (BRCA1/2) have a higher risk of developing breast and ovarian cancers at a relatively young age.
|
31558344 |
2019 |