Evaluation of KRAS Gene Expression and LCS6 Variant in Genomic and Cell-Free DNA of Iranian Women With Endometriosis

Farahani, Maryam Shahrabi; Shahbazi, Shirin; Moghaddam, Soheila Amini; Mahdian, Reza

doi:10.1177/1933719114556478

Cited by 14 publications

(7 citation statements)

References 18 publications

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“…Since in this model the onset of endometriosis appeared to be quite late (~8 months after conditional induction of K‐ras), there is question as whether this mouse model of endometriosis truly recapitulates the human counterpart. Indeed, KRAS activating mutation is reported to be rare in presumably OMA, even though elevated KRAS expression in eutopic endometrium in women with endometriosis has been reported . The somewhat prolonged latency period in inducing endometriosis seems to suggest that the KRAS mutation alone may not be sufficient to induce endometriosis.…”

Section: Mutations Of Cancer Driver Genes In Endometriosis and Their mentioning

confidence: 99%

“…Indeed, KRAS activating mutation is reported to be rare in presumably OMA, 87 even though elevated KRAS expression in eutopic endometrium in women with endometriosis has been reported. [252][253][254] The somewhat prolonged latency period in inducing endometriosis seems to suggest that the KRAS mutation alone may not be sufficient to induce endometriosis.…”

Section: Krasmentioning

confidence: 99%

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Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Guo

2018

Reprod Medicine & Biology

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BackgroundOne recent study reports cancer driver mutations in deep endometriosis, but its biological/clinical significance remains unclear. Since the natural history of endometriosis is essentially gradual progression toward fibrosis, it is thus hypothesized that the six driver genes reported to be mutated in endometriosis (the RP set) may play important roles in fibrogenesis but not necessarily malignant transformation.MethodsExtensive PubMed search to see whether RP and another set of driver genes not yet reported (NR) to be mutated in endometriosis have any roles in fibrogenesis. All studies reporting on the role of fibrogenesis of the genes in both RP and NR sets were retrieved and evaluated in this review.ResultsAll six RP genes were involved in various aspects of fibrogenesis as compared with only three NR genes. These nine genes can be anchored in networks linking with their upstream and downstream genes that are known to be aberrantly expressed in endometriosis, piecing together seemingly unrelated findings.ConclusionsGiven that somatic driver mutations can and do occur frequently in physiologically normal tissues, it is argued that these mutations in endometriosis are not necessarily synonymous with malignancy or premalignancy, but the result of enormous pressure for fibrogenesis.

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Section: Mutations Of Cancer Driver Genes In Endometriosis and Their mentioning

confidence: 99%

Section: Krasmentioning

confidence: 99%

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Guo

2018

Reprod Medicine & Biology

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“…More specifically, only the above-mentioned candidate gene study has so far reported a higher frequency of the minor allele at the rs61764370 SNP among women with endometriosis (minor allele frequency 17%, calculated from the reported percentage of women carrying the allele, assuming no deviation from Hardy-Weinberg equilibrium) compared with the frequency expected in unselected populations (minor allele frequency 7.6%) (10, 11). In marked contrast with these results, 3 different studies have failed to identify any association between rs61764370 and endometriosis (6, 15, 16). The conflicting results might be at least partly due to the lack of adequate controls.…”

Section: Introductionmentioning

confidence: 77%

“…When pooling data for meta-analysis, results from the 3 previous replication studies (6, 15, 16) as well as our novel data were included (Fig. 1).…”

Section: Resultsmentioning

confidence: 99%

Association between Let-7 microRNA-Binding-Site Polymorphism in the KRAS 3'UTR and Endometriosis: A Replication Study and Meta-Analysis

Pagliardini

Vanni

Papaleo

et al. 2015

Journal of Endometriosis and Pelvic Pain Disorders

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Background Endometriosis is inherited as a complex genetic trait, and the single nucleotide polymorphism (SNP) rs61764370 within the KRAS gene on chromosome subband 12p12.1 has been proposed as a potential candidate gene. By disrupting a binding site for microinterference RNA (miRNA) let-7, the rs61764370 SNP variation site may increase activation of KRAS and favor disease development. Conflicting evidence, however, has emerged on the association between the rs61764370 SNP and endometriosis. Due to the potential implications of this issue for the diagnosis and treatment of endometriosis, we sought to replicate the sequencing of the KRAS rs61764370 SNP in a population of cases and controls and to perform a meta-analysis encompassing all currently available studies as well as our novel replication. Methods We sought to replicate for the first time the sequencing of KRAS rs61764370 SNP in a highly selected population of 86 cases of women with laparoscopically proven endometriosis and 72 healthy controls, and to perform a meta-analysis encompassing currently available studies and including affected subjects (n = 2,225) and controls (n = 1,923). Results The rs61764370 minor allele was observed in 12 of 86 women with endometriosis (14.0%) and in 15 of 72 controls (20.8%) (odds ratio [OR] = 0.76, 95% confidence interval [95% CI], 0.36-1.60, p = 0.48). The meta-analysis failed to identify any significant association (OR = 1.03, 95% CI, 0.89-1.20, p = 0.67, phet = 0.46). Conclusions KRAS variation site rs61764370 is unlikely related to disease development, and other loci with potential implications for diagnosis or treatment for endometriosis should be identified.

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“…8 months after conditional induction of KRAS) [128], which raises the question as to whether this mouse model of endometriosis truly recapitulates the human counterpart. Indeed, KRASactivating mutation is reported to be rare in endometriomas [90], even though elevated KRAS expression in eutopic endometrium in women with endometriosis has been reported [129][130][131]. The prolonged latency period in inducing endometriosis suggests that the KRAS mutation alone may not be sufficient to induce endometriosis.…”

Section: Krasmentioning

confidence: 99%

Malignant Transformation and Associated Biomarkers of Ovarian Endometriosis: A Narrative Review

et al. 2020

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This review focuses on pathogenesis of endometriosis, its possible biomarkers and role in endometriosis-associated ovarian cancer. We analyzed various databases to obtain new insights, theories, and biomarkers associated with endometriosis. There are several theories of endometriosis development and biomarker changes including atypical forms. A number of studies have attempted to establish specific, reliable biomarkers to help diagnose endometriosis and endometriosis-associated diseases on the basis of different pathogenetic pathways. Nevertheless, despite intensive research extending even to the molecular level, the origin, natural history, malignant transformation, and laboratory management of endometriosis and related diseases are not yet clearly defined. Therefore, early laboratory diagnoses of endometriosis, its atypical form, and Digital Features To view digital features for this article go to

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Evaluation of KRAS Gene Expression and LCS6 Variant in Genomic and Cell-Free DNA of Iranian Women With Endometriosis

Cited by 14 publications

References 18 publications

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Association between Let-7 microRNA-Binding-Site Polymorphism in the KRAS 3'UTR and Endometriosis: A Replication Study and Meta-Analysis

Malignant Transformation and Associated Biomarkers of Ovarian Endometriosis: A Narrative Review

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