|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Women with mutations in the BRCA1 or BRCA2 cancer susceptibility genes face unique choices regarding management of their high risk for breast and ovarian cancer that impact their reproductive options.
|
18026853 |
2008 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data are consistent with the hypothesis that BRCA1 mutations are involved in the etiology of hereditary ovarian carcinomas but occur rarely in sporadic tumors, and that the frequent allelic loss on chromosome 17q in this cancer type reflects the involvement of an additional tumor suppressor gene(s).
|
7606717 |
1995 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
|
24728189 |
2014 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The used algorithm also allowed to identify healthy BRCA1 mutation carriers when compared to healthy wildtype women (sensitivity 88.4%, specificity 80.7%, AUC = 0.895; p = 6e-08), while this was less pronounced in patients with OC (sensitivity 66.7%, specificity 67.8%, AUC = 0.724; p = 0.00065).
|
29244844 |
2017 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of germline mutations among Jewish non Ashkenazi high risk breast/ovarian cancer families includes a few predominant mutations in BRCA1 (185delAG and Tyr978X) and BRCA2 (8765delAG).
|
22399190 |
2012 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the BRCA1 and BRCA2 genes have been shown to account for the majority of hereditary breast and ovarian cancers.
|
16168118 |
2005 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 germline mutations confer a high risk of early-onset breast and ovarian cancer.
|
22362584 |
2012 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that germline mutations of the BRCA1 gene play an important role in the carcinogenesis of breast and/or ovarian cancer in a majority of breast-ovarian cancer families and in some site-specific ovarian cancer families.
|
9197534 |
1997 |
|
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
The probability of being a BRCA1 and/or BRCA2 gene carrier was calculated for each case and control, using family history of breast and ovarian cancer, age/age at diagnosis for relatives, prevalence and penetrance data for BRCA1/BRCA2, and self-report of Jewish heritage.
|
12611452 |
2003 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among a cohort of women with BRCA1 and BRCA2 mutations, the use of risk-reducing mastectomy was associated with a lower risk of breast cancer; risk-reducing salpingo-oophorectomy was associated with a lower risk of ovarian cancer, first diagnosis of breast cancer, all-cause mortality, breast cancer-specific mortality, and ovarian cancer-specific mortality.
|
20810374 |
2010 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DNA samples from 50 individuals affected with breast cancer from non-BRCA1/2 French Canadian families with a high risk of breast and ovarian cancer were screened for sequence variants in HSD17B1.
|
18083510 |
2008 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Underestimation of risk of a BRCA1 or BRCA2 mutation in women with high-grade serous ovarian cancer by BRCAPRO: a multi-institution study.
|
24638001 |
2014 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neither loss of heterozygosity (LOH) for BRCA1 nor mutations of the TP53 (also known as p53) gene have been documented prior to invasion in ovarian cancers arising in women with germline BRCA1 mutations.
|
10880552 |
2000 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, founder mutations in BRCA1 and BRCA2 contribute to up to one-third of the families in western Denmark and among these the BRCA1 c.3319G>T mutation is potentially linked to an increased risk of ovarian cancer.
|
26833046 |
2016 |
|
Malignant neoplasm of ovary
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results suggest that the loss of BRCA1 function may be involved in the phenomenon of brain metastasis from ovarian cancer.
|
22889437 |
2013 |
|
Malignant neoplasm of ovary
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
To assess associations between normal tissue BRCA1 methylation and ovarian cancer risk.
|
29335712 |
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 |
BRCA1 VUSs are frequently found in patients with hereditary breast or ovarian cancer and present a serious problem for clinical geneticists.
|
23867111 |
2013 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The lifetime incidence of breast cancer in mutation carriers is above 50 percent, and carriers of BRCA1 mutation also have a substantially increased risk of ovarian cancer.
|
9917577 |
1999 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.
|
11504767 |
2001 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 is a tumor suppressor gene which is inactivated by mutation in familial breast and ovarian cancers.
|
17921118 |
2007 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.
|
16528604 |
2006 |
|
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The list of identified germline mutations in BRCA1 and BRCA2 is still growing, and mutation carriers have a substantial lifetime risk of both breast and ovarian cancer.
|
10369075 |
1999 |
|
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 |
Biomarker
|
disease |
BEFREE |
However, the expression pattern of ERalpha and other hormone receptors in BRCA1-associated ovarian cancer was unknown.
|
15790432 |
2005 |