|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Paired analysis of tumour-derived versus blood-derived DNA to determine the prevalence of deleterious somatic variants in OC predisposition genes (<i>ATM</i>, <i>BRCA1/2, BRIP1</i>, <i>MSH2/6</i>, <i>PALB2</i>, <i>RAD51C/D</i> and <i>TP53</i>) and the <i>PIK3CA</i> and <i>PTEN</i> genes in individuals with OC (AGO-TR1 study, NCT02222883).
|
30979843 |
2019 |
|
ovarian neoplasm
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
We also carried out a genetic and epigenetic profiling of MSH2 gene by mutational analysis and promoter methylation evaluation in 9 breast and 2 ovarian tumors from carriers of BRCA1 unknown significance variants (VUS).
|
26381082 |
2015 |
|
ovarian neoplasm
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The incidence of germline MMR gene mutations in ovarian cancer is only 2% but other mechanisms of gene inactivation mean that loss of expression of one of the seven main genes (MSH2, MSH3, MSH6, MLH1, MLH3, PMS1 and PMS2) occurs in up to 29% of cases.
|
24333356 |
2014 |
|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Based on recent estimates that 11.7-16.6 % of women with ovarian cancer are BRCA carriers and 2 % are HNPCC carriers, results suggest under-identification of carriers and under-utilization of genetic services by providers and patients.
|
23677535 |
2013 |
|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report on an ovarian cancer patient who carries a germline MSH2 c.1A>C variant which alters the translation initiation codon.
|
21837758 |
2012 |
|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that fewer than 1% of women with ovarian cancer harbour a germline mutation in the HNPCC genes, with overrepresentation of MSH6 mutations.
|
23047549 |
2012 |
|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ovarian cancer (N = 72) had an lifetime risk of 6.7% (95% CI: 5.3-9.1); risks were higher in women born after the median year of birth (p < 0.008) and in members of MSH2 families (p < 0.006).
|
18398828 |
2008 |
|
ovarian neoplasm
|
0.700 |
Biomarker
|
disease |
CTD_human |
Besides, the methylation rates of hMSH2 were significantly higher in endometrioid adenocarcinoma tissues than in other pathological types of ovarian cancer.
|
19032668 |
2008 |
|
ovarian neoplasm
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Besides, the methylation rates of hMSH2 were significantly higher in endometrioid adenocarcinoma tissues than in other pathological types of ovarian cancer.
|
19032668 |
2008 |
|
ovarian neoplasm
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
MMR-deficient ovarian cancer is frequently associated with loss of expression of MSH2 and MSH6 proteins and clear cell histology.
|
18469706 |
2008 |
|
ovarian neoplasm
|
0.700 |
Biomarker
|
disease |
BEFREE |
Limiting genetic evaluation to women with synchronous endometrial and ovarian cancer who have a family history suggestive of HNPCC may appropriately identify women with Lynch syndrome.
|
16361634 |
2005 |
|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe two women from an HNPCC family carrying an hMSH2 mutation (deletion of exon 6 of this gene) who developed ovarian cancer.
|
14574006 |
2001 |
|
ovarian neoplasm
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
To clarify the mechanism of acquired CDDP resistance in ovarian cancer, we compared the microsatellite instability (MSI) by the amplification of 10 microsatellite loci and immunohistochemical detection of hMSH2 and hMLH1 expression between the primary resected tumours and the secondary resected residual tumours after 5 or 6 courses of CDDP-based chemotherapy in the 24 cases of ovarian cancer.
|
11592780 |
2001 |
|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The fact that we found no germline pathologic mutations in hMSH2 and hMLH1 (predominant sites of mutation in HNPCC) in MIN+ OC cases, suggests that the genetic basis of MIN in OC can be different from that in HNPCC; our finding that distinct microsatellite banding patterns largely distinguish sporadic from familial OC, may reflect the involvement of different DNA repair genes in MIN in individual OC cases.
|
8824498 |
1996 |
|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic instability, caused in part by alterations in the hMSH2 gene, may play an important role in the sporadic endometrioid subtype of ovarian tumors.
|
8550235 |
1995 |
|
ovarian neoplasm
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Amongst the important known susceptibility genes are those dominant genes conferring a high risk of breast and ovarian cancer (BRCA1), colon cancer (hMSH2 and hMLH1), and melanoma (MLM).
|
7987639 |
1994 |
|
ovarian neoplasm
|
0.700 |
Biomarker
|
disease |
BEFREE |
This review discusses recent insights into the roles of the p53 tumor-suppressor gene and growth factors in the development of ovarian cancer and describes the genes implicated in familial ovarian cancer syndromes related to the MSH2 (Lynch II) and BRCA1 (breast and ovarian cancer) genes.
|
7827156 |
1994 |
|
ovarian neoplasm
|
0.700 |
Biomarker
|
disease |
BEFREE |
The genetic instability observed in the tumor and cell line DNA, together with the germ-line mutation in a mismatch-repair gene, suggest that the MSH2 gene is involved in the onset and/or progression in a subset of ovarian cancer.
|
7937795 |
1994 |
|
ovarian neoplasm
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
ovarian neoplasm
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
ovarian neoplasm
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
ovarian neoplasm
|
0.700 |
GenomicAlterations
|
disease |
CGI |
|
|
|