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From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin

The expanding use of tumor genome analysis by next generation sequencing to drive target therapies has led to increased germline findings in genes predisposing to hereditary cancer. These putative germline findings obtained from theranostic analyses, such as BRCA1/2 gene testing, large panels, whole...

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Autores principales: Pujol, Pascal, De La Motte Rouge, Thibault, Penault-Llorca, Frédérique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787697/
https://www.ncbi.nlm.nih.gov/pubmed/31357515
http://dx.doi.org/10.3390/diagnostics9030083
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author Pujol, Pascal
De La Motte Rouge, Thibault
Penault-Llorca, Frédérique
author_facet Pujol, Pascal
De La Motte Rouge, Thibault
Penault-Llorca, Frédérique
author_sort Pujol, Pascal
collection PubMed
description The expanding use of tumor genome analysis by next generation sequencing to drive target therapies has led to increased germline findings in genes predisposing to hereditary cancer. These putative germline findings obtained from theranostic analyses, such as BRCA1/2 gene testing, large panels, whole-exome, or whole-genome sequencing, need to be managed carefully and in an anticipated way with the patient. Before the genetic analysis of a tumor, specific information should be given to patients, who should be aware that the results may have extra-therapeutic medical issues for themselves and relatives. We previously published a list of 36 actionable genes predisposing to cancer for which informing the patient is recommended prior to pangenomic germline analysis because of available screening or preventive strategies. Here, we report clinical practice considerations and schemes for managing germline findings in tumor analyses, including written informed consent and a multidisciplinary approach involving an oncologist, molecular biologist/pathologist, and geneticist in case of germline findings. A somatic result showing a deleterious mutation in a known predisposing gene in a patient who has consented to this purpose should result in referral to a geneticist who is part of the multidisciplinary team. At any time of the somatic analysis process, the patient may have access to a geneticist consultation if additional information is required. This framework will optimally manage both personalized theranostic issues and specific preventive strategies for individuals and relatives; it will also simplify and accelerate the process of genetic testing.
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spelling pubmed-67876972019-10-16 From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin Pujol, Pascal De La Motte Rouge, Thibault Penault-Llorca, Frédérique Diagnostics (Basel) Brief Report The expanding use of tumor genome analysis by next generation sequencing to drive target therapies has led to increased germline findings in genes predisposing to hereditary cancer. These putative germline findings obtained from theranostic analyses, such as BRCA1/2 gene testing, large panels, whole-exome, or whole-genome sequencing, need to be managed carefully and in an anticipated way with the patient. Before the genetic analysis of a tumor, specific information should be given to patients, who should be aware that the results may have extra-therapeutic medical issues for themselves and relatives. We previously published a list of 36 actionable genes predisposing to cancer for which informing the patient is recommended prior to pangenomic germline analysis because of available screening or preventive strategies. Here, we report clinical practice considerations and schemes for managing germline findings in tumor analyses, including written informed consent and a multidisciplinary approach involving an oncologist, molecular biologist/pathologist, and geneticist in case of germline findings. A somatic result showing a deleterious mutation in a known predisposing gene in a patient who has consented to this purpose should result in referral to a geneticist who is part of the multidisciplinary team. At any time of the somatic analysis process, the patient may have access to a geneticist consultation if additional information is required. This framework will optimally manage both personalized theranostic issues and specific preventive strategies for individuals and relatives; it will also simplify and accelerate the process of genetic testing. MDPI 2019-07-26 /pmc/articles/PMC6787697/ /pubmed/31357515 http://dx.doi.org/10.3390/diagnostics9030083 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Pujol, Pascal
De La Motte Rouge, Thibault
Penault-Llorca, Frédérique
From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin
title From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin
title_full From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin
title_fullStr From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin
title_full_unstemmed From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin
title_short From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin
title_sort from targeting somatic mutations to finding inherited cancer predispositions: the other side of the coin
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787697/
https://www.ncbi.nlm.nih.gov/pubmed/31357515
http://dx.doi.org/10.3390/diagnostics9030083
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