From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin - Université de Montpellier Accéder directement au contenu
Article Dans Une Revue Diagnostics Année : 2019

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

Résumé

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.
Fichier principal
Vignette du fichier
diagnostics-09-00083-v2 (1).pdf (2.25 Mo) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte

Dates et versions

hal-02571342 , version 1 (25-05-2021)

Licence

Paternité

Identifiants

Citer

Pascal Pujol, Thibault de La Motte Rouge, Frédérique Penault-Llorca. From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin. Diagnostics, 2019, 9 (3), pp.83. ⟨10.3390/diagnostics9030083⟩. ⟨hal-02571342⟩
32 Consultations
35 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More