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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ivyspring International Publisher
2016
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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. |
format | Online Article Text |
id | pubmed-4964128 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Ivyspring International Publisher |
record_format | MEDLINE/PubMed |
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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