DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)

Germline pathogenic variants (PVs) in DNA-repair genes have garnered increasing attention in metastatic prostate cancer, and more patients are having somatic and germline DNA testing performed. Interpretation of germline DNA testing is a novel challenge for many clinicians, and the results of germli...

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Autores principales: Rathi, Nityam, Anderson, Neysi, Greenberg, Samantha, Vagher, Jennie, Agarwal, Neeraj, Hahn, Andrew W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134990/
https://www.ncbi.nlm.nih.gov/pubmed/30220950
http://dx.doi.org/10.14740/wjon1144w
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author Rathi, Nityam
Anderson, Neysi
Greenberg, Samantha
Vagher, Jennie
Agarwal, Neeraj
Hahn, Andrew W.
author_facet Rathi, Nityam
Anderson, Neysi
Greenberg, Samantha
Vagher, Jennie
Agarwal, Neeraj
Hahn, Andrew W.
author_sort Rathi, Nityam
collection PubMed
description Germline pathogenic variants (PVs) in DNA-repair genes have garnered increasing attention in metastatic prostate cancer, and more patients are having somatic and germline DNA testing performed. Interpretation of germline DNA testing is a novel challenge for many clinicians, and the results of germline DNA-repair gene testing have significant implications for men with advanced prostate cancer and their children and siblings. Here, we report the case of a man with metastatic castration-refractory prostate cancer and a pathogenic, germline BRCA2 variant. We discuss the significance of his referral to a high-risk genetics clinic and the unique targeted therapy that he responded to.
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spelling pubmed-61349902018-09-14 DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC) Rathi, Nityam Anderson, Neysi Greenberg, Samantha Vagher, Jennie Agarwal, Neeraj Hahn, Andrew W. World J Oncol Case Report Germline pathogenic variants (PVs) in DNA-repair genes have garnered increasing attention in metastatic prostate cancer, and more patients are having somatic and germline DNA testing performed. Interpretation of germline DNA testing is a novel challenge for many clinicians, and the results of germline DNA-repair gene testing have significant implications for men with advanced prostate cancer and their children and siblings. Here, we report the case of a man with metastatic castration-refractory prostate cancer and a pathogenic, germline BRCA2 variant. We discuss the significance of his referral to a high-risk genetics clinic and the unique targeted therapy that he responded to. Elmer Press 2018-08 2018-09-06 /pmc/articles/PMC6134990/ /pubmed/30220950 http://dx.doi.org/10.14740/wjon1144w Text en Copyright 2018, Rathi et al. http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Rathi, Nityam
Anderson, Neysi
Greenberg, Samantha
Vagher, Jennie
Agarwal, Neeraj
Hahn, Andrew W.
DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)
title DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)
title_full DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)
title_fullStr DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)
title_full_unstemmed DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)
title_short DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)
title_sort dna damage repair (ddr) mutations and the utility of high-risk genetics clinics in metastatic castration-refractory prostate cancer (mcrpc)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134990/
https://www.ncbi.nlm.nih.gov/pubmed/30220950
http://dx.doi.org/10.14740/wjon1144w
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