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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
European Respiratory Society
2021
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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. |
format | Online Article Text |
id | pubmed-9488670 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | European Respiratory Society |
record_format | MEDLINE/PubMed |
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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