Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
HPO |
|
|
|
Malignant neoplasm of ovary
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Methods:</b> 255 <i>BRCA1/2</i>-negative Chinese familial breast and/or ovarian cancer (FBOC) patients were recruited for <i>FANCC</i> germline mutations screen.
|
30967997 |
2019 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Methods:</b> Patients with Breast Cancer (BC) and/or Ovarian Cancer (OC) fulfilling established criteria were offered genetic counseling and BRCA1/2 testing; VUSs identified in index cases were checked in other relatives affected by BC/OC whenever possible.
|
30254663 |
2018 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Purpose:</b> PARP inhibitors (PARPi) are primarily effective against BRCA1/2-mutated breast and ovarian cancers, but resistance due to reversion of mutated BRCA1/2 and other mechanisms is common.
|
29615458 |
2018 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
17 beta Hydroxysteroid dehydrogenase 1 "pseudogene" is differentially transcribed: still a candidate for the breast-ovarian cancer susceptibility gene (BRCA1).
|
8024576 |
1994 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
691 female BRCA1/2 mutation carriers without breast or ovarian cancer at time of family ascertainment were identified; 346 BRCA1 and 345 BRCA2.
|
24249359 |
2013 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ovarian cancer is a component of the autosomal-dominant hereditary breast-ovarian cancer syndrome and may be due to a mutation in either the BRCA1 or BRCA2 genes.
|
10739756 |
2000 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
Ovarian cancer penetrance for BRCA1 and BRCA2 combined was 22% (6-65%) by age 80.
|
11044354 |
2000 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ovarian cancer survival in Ashkenazi Jewish patients with BRCA1 and BRCA2 mutations.
|
11373105 |
2001 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.
|
12473589 |
2002 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ovarian cancer is a major cause of cancer deaths, yet there have been few known genetic risk factors identified, the best known of which are disruptions in protein coding sequences (BRCA1 and 2).
|
24909162 |
2015 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are associated with mutations in BRCA1 and BRCA2 genes.
|
25136623 |
2014 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ovarian carcinomas (OC) arising in BRCA1 and BRCA2 mutation carriers demonstrate pronounced sensitivity to platinum-based therapy due to deficiency of double-strand break DNA repair.
|
25186150 |
2014 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ovarian cancer in BRCA1/2 mutation carriers: The impact of mutation position and family history on the cancer risk.
|
26239500 |
2015 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 mutation testing was carried out on index cases from 119 families with site-specific epithelial ovarian cancer or breast-ovarian cancer.
|
10029077 |
1999 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 mutations in familial ovarian cancer.
|
10444347 |
1999 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 analysis was conducted in consecutive patients with breast cancer before the age of 40 years (76 women), or whose relatives had breast or ovarian cancer (16 women).
|
10682662 |
2000 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only.
|
10788334 |
2000 |
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
CTD_human |
BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only.
|
10788334 |
2000 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 mutations in Belgian families with a history of breast and/or ovarian cancer.
|
10866028 |
1998 |
Malignant neoplasm of ovary
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
BRCA1 methylation was only seen in ovarian cancer patients without a family history suggestive of a breast/ ovarian cancer syndrome.
|
11034065 |
2000 |