Copy number variation analysis reveals additional variants contributing to endometriosis development

Mafra, Fernanda; Mazzotti, Diego R.; Pellegrino, Renata; Bianco, Bianca; Barbosa, Caio Parente; Hákonarson, Hákon; Christofolini, Denise Maria

doi:10.1007/s10815-016-0822-1

Cited by 14 publications

(7 citation statements)

References 53 publications

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“…Using single-nucleotide polymorphism (SNP) array technology, a 2017 publication 31 describes genomic aberrations linked to the development of endometriosis. These investigators performed SNP array genotyping of pooled DNA samples from 100 patients with endometriosis and 50 controls.…”

Section: Diagnosismentioning

confidence: 99%

Endometriosis: advances and controversies in classification, pathogenesis, diagnosis, and treatment

2019

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Endometriosis is an enigmatic disease that could start at birth. Its pathogenesis is supported by different theories. Accumulating facts relate it to a multigenic disorder. In this review of recent publications, the principal symptoms of the disease, pain and infertility, as well as its pathogenesis, diagnosis, and classification will be addressed. Endometriosis presents three main variants: superficial peritoneal disease, deep infiltrating endometriosis, and ovarian endometriomas. The management of the disease, surgery, and medical and alternative therapies will be discussed. Special reference will be made to the quality of surgery and how to understand patients with endometriosis and endometriosis.

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Section: Diagnosismentioning

confidence: 99%

Endometriosis: advances and controversies in classification, pathogenesis, diagnosis, and treatment

2019

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“…Mutations in TP53 [ 96 , 97 ] KRAS [ 30 , 98 ], PTEN [ 94 ], PIK3CA [ 99 , 100 ], and ARID1A gene regions [ 54 , 57 ] have been described. Loss of expression of mismatch repair enzymes [ 101 ], microsatellite instability [ 102 ], and tissue-specific gene copy-number changes [ 103 , 104 ], may also be seen in endometriosis lesions. LOH in endometriosis at known oncogenic loci is also frequently seen [ 94 , 105 – 110 ].…”

Section: Development Of Eaoc From Endometriosismentioning

confidence: 99%

Endometriosis and endometriosis-associated cancers: new insights into the molecular mechanisms of ovarian cancer development

Dawson¹,

Fernández²,

Anglesio³

et al. 2018

ecancer

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Endometriosis is a fascinating disease that we strive to better understand. Molecular techniques are shedding new light on many important aspects of this disease: from pathogenesis to the recognition of distinct disease variants like deep infiltrating endometriosis. The observation that endometriosis is a cancer precursor has now been strengthened with the knowledge that mutations that are present in endometriosis-associated cancers can be found in adjacent endometriosis lesions. Recent genomic studies, placed in context, suggest that deep infiltrating endometriosis may represent a benign neoplasm that invades locally but rarely metastasises. Further research will help elucidate distinct aberrations which result in this phenotype. With respect to identifying those patients who may be at risk of developing endometriosis-associated cancers, a combination of molecular, pathological, and inheritance markers may define a high-risk group that might benefit from risk-reducing strategies.

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“…Mutations in Kirsten rat sarcoma (KRAS) [93,94], tumor protein p53 gene (TP53) [95,96], phosphatidylinositol-4,5-bisphosphate 3-kinase (PIK3CA) [97,98], phosphatase and tensin homolog (PTEN) [99], and AT-rich interactive domain-containing protein 1A (ARID1A) gene regions [100,101] have been described. Microsatellite instability [102], loss of expression of mismatch repair enzymes [103], and tissue-specific gene copy-number changes [104,105] may also be seen in endometriosis lesions. Loss of heterozygosity resulting in PTEN loss may be an early driver event in the genesis of endometriosis-associated ovarian carcinomas arising from endometriosis [99,106].…”

Section: Genes Involved In Endometriosis Developmentmentioning

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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Copy number variation analysis reveals additional variants contributing to endometriosis development

Cited by 14 publications

References 53 publications

Endometriosis: advances and controversies in classification, pathogenesis, diagnosis, and treatment

Endometriosis: advances and controversies in classification, pathogenesis, diagnosis, and treatment

Endometriosis and endometriosis-associated cancers: new insights into the molecular mechanisms of ovarian cancer development

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

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