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Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice

Ovarian carcinoma is the most lethal gynecological malignancy worldwide. Recent advance in genomic/epigenomic researches will impact on our prevention, detection and intervention on ovarian carcinoma. Detection of germline mutations in BRCA1/BRCA2, mismatch repair genes, and other genes in the homol...

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Autores principales: Dong, Anliang, Lu, Yan, Lu, Bingjian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964128/
https://www.ncbi.nlm.nih.gov/pubmed/27471560
http://dx.doi.org/10.7150/jca.15556
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author Dong, Anliang
Lu, Yan
Lu, Bingjian
author_facet Dong, Anliang
Lu, Yan
Lu, Bingjian
author_sort Dong, Anliang
collection PubMed
description Ovarian carcinoma is the most lethal gynecological malignancy worldwide. Recent advance in genomic/epigenomic researches will impact on our prevention, detection and intervention on ovarian carcinoma. Detection of germline mutations in BRCA1/BRCA2, mismatch repair genes, and other genes in the homologous recombination/DNA repair pathway propelled the genetic surveillance of most hereditary ovarian carcinomas. Germline or somatic mutations in SMARCA4 in familial and sporadic small cell carcinoma of the ovary, hypercalcemia type, lead to our recognition on this rare aggressive tumor as a new entity of the atypical teratoma/rhaboid tumor family. Genome-wide association studies have identified many genetic variants that will contribute to the evaluation of ovarian carcinoma risk and prognostic prediction. Whole exome sequencing and whole genome sequencing discovered rare mutations in other drive mutations except p53, but demonstrated the presence of high genomic heterogeneity and adaptability in the genetic evolution of high grade ovarian serous carcinomas that occurs in cancer progression and chemotherapy. Gene mutations, copy number aberrations and DNA methylations provided promising biomarkers for the detection, diagnosis, prognosis, therapy response and targets of ovarian cancer. These findings underscore the necessity to translate these potential biomarkers into clinical practice.
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spelling pubmed-49641282016-07-28 Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice Dong, Anliang Lu, Yan Lu, Bingjian J Cancer Review Ovarian carcinoma is the most lethal gynecological malignancy worldwide. Recent advance in genomic/epigenomic researches will impact on our prevention, detection and intervention on ovarian carcinoma. Detection of germline mutations in BRCA1/BRCA2, mismatch repair genes, and other genes in the homologous recombination/DNA repair pathway propelled the genetic surveillance of most hereditary ovarian carcinomas. Germline or somatic mutations in SMARCA4 in familial and sporadic small cell carcinoma of the ovary, hypercalcemia type, lead to our recognition on this rare aggressive tumor as a new entity of the atypical teratoma/rhaboid tumor family. Genome-wide association studies have identified many genetic variants that will contribute to the evaluation of ovarian carcinoma risk and prognostic prediction. Whole exome sequencing and whole genome sequencing discovered rare mutations in other drive mutations except p53, but demonstrated the presence of high genomic heterogeneity and adaptability in the genetic evolution of high grade ovarian serous carcinomas that occurs in cancer progression and chemotherapy. Gene mutations, copy number aberrations and DNA methylations provided promising biomarkers for the detection, diagnosis, prognosis, therapy response and targets of ovarian cancer. These findings underscore the necessity to translate these potential biomarkers into clinical practice. Ivyspring International Publisher 2016-07-05 /pmc/articles/PMC4964128/ /pubmed/27471560 http://dx.doi.org/10.7150/jca.15556 Text en © Ivyspring International Publisher. Reproduction is permitted for personal, noncommercial use, provided that the article is in whole, unmodified, and properly cited. See http://ivyspring.com/terms for terms and conditions.
spellingShingle Review
Dong, Anliang
Lu, Yan
Lu, Bingjian
Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice
title Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice
title_full Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice
title_fullStr Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice
title_full_unstemmed Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice
title_short Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice
title_sort genomic/epigenomic alterations in ovarian carcinoma: translational insight into clinical practice
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964128/
https://www.ncbi.nlm.nih.gov/pubmed/27471560
http://dx.doi.org/10.7150/jca.15556
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