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Lung cancer is also a hereditary disease

Pathogenic genetic variants (formerly called mutations) present in the germline of some individuals are associated with a clinically relevant increased risk of developing lung cancer. These germline pathogenic variants are hereditary and are transmitted in an autosomal dominant fashion. There are tw...

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Autores principales: Benusiglio, Patrick R., Fallet, Vincent, Sanchis-Borja, Mateo, Coulet, Florence, Cadranel, Jacques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488670/
https://www.ncbi.nlm.nih.gov/pubmed/34670806
http://dx.doi.org/10.1183/16000617.0045-2021
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author Benusiglio, Patrick R.
Fallet, Vincent
Sanchis-Borja, Mateo
Coulet, Florence
Cadranel, Jacques
author_facet Benusiglio, Patrick R.
Fallet, Vincent
Sanchis-Borja, Mateo
Coulet, Florence
Cadranel, Jacques
author_sort Benusiglio, Patrick R.
collection PubMed
description Pathogenic genetic variants (formerly called mutations) present in the germline of some individuals are associated with a clinically relevant increased risk of developing lung cancer. These germline pathogenic variants are hereditary and are transmitted in an autosomal dominant fashion. There are two major lung cancer susceptibility syndromes, and both seem to be specifically associated with the adenocarcinoma subtype. Li-Fraumeni syndrome is caused by variants in the TP53 tumour-suppressor gene. Carriers are mainly at risk of early-onset breast cancer, sarcoma, glioma, leukaemia, adrenal cortical carcinoma and lung cancer. EGFR variants, T790M in particular, cause the EGFR susceptibility syndrome. Risk seems limited to lung cancer. Emerging data suggest that variants in ATM, the breast and pancreatic cancer susceptibility gene, also increase lung adenocarcinoma risk. As for inherited lung disease, cancer risk is increased in SFTPA1 and SFTPA2 variant carriers independently of the underlying fibrosis. In this review, we provide criteria warranting the referral of a lung cancer patient to the cancer genetics clinic. Pathogenic variants are first identified in patients with cancer, and then in a subset of their relatives. Lung cancer screening should be offered to asymptomatic carriers, with thoracic magnetic resonance imaging at its core.
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spelling pubmed-94886702022-11-14 Lung cancer is also a hereditary disease Benusiglio, Patrick R. Fallet, Vincent Sanchis-Borja, Mateo Coulet, Florence Cadranel, Jacques Eur Respir Rev Series Pathogenic genetic variants (formerly called mutations) present in the germline of some individuals are associated with a clinically relevant increased risk of developing lung cancer. These germline pathogenic variants are hereditary and are transmitted in an autosomal dominant fashion. There are two major lung cancer susceptibility syndromes, and both seem to be specifically associated with the adenocarcinoma subtype. Li-Fraumeni syndrome is caused by variants in the TP53 tumour-suppressor gene. Carriers are mainly at risk of early-onset breast cancer, sarcoma, glioma, leukaemia, adrenal cortical carcinoma and lung cancer. EGFR variants, T790M in particular, cause the EGFR susceptibility syndrome. Risk seems limited to lung cancer. Emerging data suggest that variants in ATM, the breast and pancreatic cancer susceptibility gene, also increase lung adenocarcinoma risk. As for inherited lung disease, cancer risk is increased in SFTPA1 and SFTPA2 variant carriers independently of the underlying fibrosis. In this review, we provide criteria warranting the referral of a lung cancer patient to the cancer genetics clinic. Pathogenic variants are first identified in patients with cancer, and then in a subset of their relatives. Lung cancer screening should be offered to asymptomatic carriers, with thoracic magnetic resonance imaging at its core. European Respiratory Society 2021-10-20 /pmc/articles/PMC9488670/ /pubmed/34670806 http://dx.doi.org/10.1183/16000617.0045-2021 Text en Copyright ©The authors 2021 https://creativecommons.org/licenses/by-nc/4.0/This version is distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. For commercial reproduction rights and permissions contact permissions@ersnet.org (mailto:permissions@ersnet.org)
spellingShingle Series
Benusiglio, Patrick R.
Fallet, Vincent
Sanchis-Borja, Mateo
Coulet, Florence
Cadranel, Jacques
Lung cancer is also a hereditary disease
title Lung cancer is also a hereditary disease
title_full Lung cancer is also a hereditary disease
title_fullStr Lung cancer is also a hereditary disease
title_full_unstemmed Lung cancer is also a hereditary disease
title_short Lung cancer is also a hereditary disease
title_sort lung cancer is also a hereditary disease
topic Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488670/
https://www.ncbi.nlm.nih.gov/pubmed/34670806
http://dx.doi.org/10.1183/16000617.0045-2021
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