ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
|
27463617 |
2016 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.
|
11179017 |
2001 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Women who have inherited mutations in the BRCA1 or BRCA2 genes have substantially elevated risks of breast and ovarian cancer.
|
20961453 |
2010 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Deleterious mutations in two breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2 have been identified in breast and ovarian cancer families.
|
17508290 |
2007 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
This is the first study from South India, on BRCA1, BRCA2 & CHEK2 (1100 del C) mutations in patients with a family history of breast and/or ovarian cancer and early onset breast/ovarian cancer, using the sensitive DHPLC approach.
|
14507240 |
2003 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our results support earlier notions that other genes than BRCA1 and BRCA2 will explain a majority of the still unexplained cases of hereditary susceptibility to breast and ovarian cancer.
|
11566341 |
2001 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.
|
26028024 |
2016 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The corresponding cumulative risks for ovarian cancer were 31% (95% CI 17 to 43%) for BRCA1 and 6% (95% CI 2 to 11%) for BRCA2 mutation carriers.
|
24285858 |
2014 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In the Ashkenazi Jewish population, 29 to 41% of ovarian cancer is believed to be secondary to inheriting one of three founder mutations in BRCA 1 and BRCA 2, while only 10% of ovarian cancer is attributed to mutations of these genes in non-Ashkenazim.
|
15516850 |
2004 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In BRCA1 or BRCA2 mutation carriers, no difference in allele frequency was observed for carriers affected or unaffected with ovarian cancer.
|
10487631 |
1999 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the BRCA1 (MIM 113705) and BRCA2 (MIM 600185) genes have been identified for breast and ovarian cancer families of diverse ethnic backgrounds.
|
11933205 |
2002 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRCA1 and BRCA2 account for a large portion of the inherited predisposition to breast and ovarian cancer.
|
10432928 |
1999 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To characterise the prevalence of pathogenic germline mutations in BRCA1 and BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history.
|
26928436 |
2016 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The hereditary breast and ovarian cancer syndrome, primarily due to mutations in BRCA1 and BRCA2, is the main cause of heredity, but also the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome confers an increased risk of ovarian cancer.
|
16360201 |
2006 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
|
23479189 |
2013 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Among the 1331 patients with OC, 227 (17.1%) carried deleterious variants in BRCA1 and 70 (5.3%) carried deleterious variants in BRCA2.
|
30078507 |
2018 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Its most common occurrence is its association with ovarian cancer in the so-called hereditary breast-ovarian cancer syndrome due to BRCA1 and BRCA2 mutations.
|
18086272 |
2008 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The most common BRCA1/BRCA2 mutations were identified in 30 patients with ovarian cancer.
|
24078348 |
2014 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
In a population well beyond the average age of breast/ovarian cancer onset, 21 different sequence variants in the BRCA1 gene (one novel: c.5193+49_50delTA) and 36 variants in the BRCA2 gene (7 novel: c.459A>C, c.3318C>A, c.4412_ 4414delGAA, c.4790C>A, c.6264T>C, c.9087G>A, and c.9864A>G) were detected.
|
18844490 |
2008 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Heterozygosity and homozygosity of any of the examined nine BRCA1 and BRCA2 missense polymorphisms cannot explain the increased risk of breast and/or ovarian cancer observed in families with hereditary breast and/or ovarian cancer.
|
19661094 |
2009 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Overall, we provide evidence that gross rearrangements within the BRCA1 gene locus may be as frequent as 3% in primarily mutation-negative tested high-risk familial breast and ovarian cancer of German ancestry, while large alterations involving the BRCA2 locus do not appear to play a significant role in disease etiology.
|
16772120 |
2006 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The HH genotype of the nonconservative amino acid substitution polymorphism N372H in the BRCA2 gene was reported to be associated with a 1.3- to 1.5-fold increase in risk of both breast and ovarian cancer.
|
15668505 |
2005 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer.
|
12203997 |
2002 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to analyze BRCA1 and BRCA2 mutations in Uruguayan families with breast and breast/ovarian cancer.
|
21190077 |
2011 |
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.
|
28176296 |
2017 |