ArticleFamilial cancer2017
Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.
Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.International journal of cancer · 2022Pooled it
- Comparison of universal screening in major lynch-associated tumors: a systematic review of literature.Familial cancer · 2022Pooled it
- Predictive and Prognostic Value of Microsatellite Instability in Gynecologic Cancer (Endometrial and Ovarian).Cancers · 2021Review
- Antioxidants and Therapeutic Targets in Ovarian Clear Cell Carcinoma.Antioxidants (Basel, Switzerland) · 2021Review
- How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.Cancers · 2021Review
- Current Position of the Molecular Therapeutic Targets for Ovarian Clear Cell Carcinoma: A Literature Review.Healthcare (Basel, Switzerland) · 2019Review
- Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.Gynecologic oncology reports · 2018Article
- Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer.Journal of gynecologic oncology · 2018Article
- Ovarian Cancer Prevention in High-risk Women.Clinical obstetrics and gynecology · 2017Review
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
Abstract
A high proportion of ovarian cancers from women who carry germline mutations in mismatch repair (MMR) genes demonstrate microsatellite instability (MSI). The utility of pre-screening ovarian cancer specimens for MSI to identify potential patients for germline screening for MMR mutations is uncertain. 656 women with malignant ovarian cancer underwent both MSI testing and germline mutation testing for large rearrangements in three MMR genes, MLH1, MSH2 and MSH6. Germline DNA sequencing data for the same genes was available. Among the 656 women, only four (0.6%) carried a clearly pathogenic MMR mutation. All four cancers from patients with mutations had loss of two or more microsatellite markers (MSI-high). Eighty-four of 652 (13.0%) women without a mutation had MSI-high ovarian cancers. Using MSI-high as a prescreening criterion, the sensitivity of MSI testing to identify germline MMR gene mutations was 100% and the positive predictive value was 4.5%. Germline mutations in MLH1, MSH2 and MSH6 are rare among unselected cases of ovarian cancer. Patients with germline mutations often will have MSI-positive cancers and pre-screening of ovarian cancer specimens may be an efficient way of identifying patients with Lynch syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.