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The impact of hereditary cancer gene panels on clinical care and lessons learned

Mutations in hereditary cancer syndromes account for a modest fraction of all cancers; however, identifying patients with these germline mutations offers tremendous health benefits to both patients and their family members. There are about 60 genes that confer a high lifetime risk of specific cancer...

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Autores principales: Okur, Volkan, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701305/
https://www.ncbi.nlm.nih.gov/pubmed/29162654
http://dx.doi.org/10.1101/mcs.a002154
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author Okur, Volkan
Chung, Wendy K.
author_facet Okur, Volkan
Chung, Wendy K.
author_sort Okur, Volkan
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description Mutations in hereditary cancer syndromes account for a modest fraction of all cancers; however, identifying patients with these germline mutations offers tremendous health benefits to both patients and their family members. There are about 60 genes that confer a high lifetime risk of specific cancers, and this information can be used to tailor prevention, surveillance, and treatment. With advances in next-generation sequencing technologies and the elimination of gene patents for evaluating genetic information, we are now able to analyze multiple genes simultaneously, leading to the widespread clinical use of gene panels for germline cancer testing. Over the last 4 years since these panels were introduced, we have learned about the diagnostic yield of testing, the expanded phenotypes of the patients with mutations, and the clinical utility of genetic testing in patients with cancer and/or without cancer but with a family history of cancer. We have also experienced challenges including the large number of variants of unknown significance (VUSs), identification of somatic mutations and need to differentiate these from germline mutations, technical issues with particular genes and mutations, insurance coverage and reimbursement issues, lack of access to data, and lack of clinical management guidelines for newer and, especially, moderate and low-penetrance genes. The lessons learned from cancer genetic testing panels are applicable to other clinical areas as well and highlight the problems to be solved as we advance genomic medicine.
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spelling pubmed-57013052017-12-04 The impact of hereditary cancer gene panels on clinical care and lessons learned Okur, Volkan Chung, Wendy K. Cold Spring Harb Mol Case Stud Commentary Mutations in hereditary cancer syndromes account for a modest fraction of all cancers; however, identifying patients with these germline mutations offers tremendous health benefits to both patients and their family members. There are about 60 genes that confer a high lifetime risk of specific cancers, and this information can be used to tailor prevention, surveillance, and treatment. With advances in next-generation sequencing technologies and the elimination of gene patents for evaluating genetic information, we are now able to analyze multiple genes simultaneously, leading to the widespread clinical use of gene panels for germline cancer testing. Over the last 4 years since these panels were introduced, we have learned about the diagnostic yield of testing, the expanded phenotypes of the patients with mutations, and the clinical utility of genetic testing in patients with cancer and/or without cancer but with a family history of cancer. We have also experienced challenges including the large number of variants of unknown significance (VUSs), identification of somatic mutations and need to differentiate these from germline mutations, technical issues with particular genes and mutations, insurance coverage and reimbursement issues, lack of access to data, and lack of clinical management guidelines for newer and, especially, moderate and low-penetrance genes. The lessons learned from cancer genetic testing panels are applicable to other clinical areas as well and highlight the problems to be solved as we advance genomic medicine. Cold Spring Harbor Laboratory Press 2017-11 /pmc/articles/PMC5701305/ /pubmed/29162654 http://dx.doi.org/10.1101/mcs.a002154 Text en © 2017 Okur and Chung; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Commentary
Okur, Volkan
Chung, Wendy K.
The impact of hereditary cancer gene panels on clinical care and lessons learned
title The impact of hereditary cancer gene panels on clinical care and lessons learned
title_full The impact of hereditary cancer gene panels on clinical care and lessons learned
title_fullStr The impact of hereditary cancer gene panels on clinical care and lessons learned
title_full_unstemmed The impact of hereditary cancer gene panels on clinical care and lessons learned
title_short The impact of hereditary cancer gene panels on clinical care and lessons learned
title_sort impact of hereditary cancer gene panels on clinical care and lessons learned
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701305/
https://www.ncbi.nlm.nih.gov/pubmed/29162654
http://dx.doi.org/10.1101/mcs.a002154
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