Genetic tumor syndromes involving the thorax
2023-05-12 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Classification
Definition
Hereditary factors can contribute to the development of thoracic tumors. Constitutional pathogenic variants can now be routinely screened by next generation sequencing (NGS) to identify at-risk individuals in affected families and offer genetic counseling, choice of therapy and surveillance guideline. There is a wide range of hereditary genetic disorders that are associated with familiar predisposition to a variety of thoracic neoplasms. See details in WHO 2020 Thoracic Tumours.
| Genetic tumor syndromes involving the thorax | |
|---|---|
| Li-Fraumeni syndrome | OMIM:151623 |
| BAP1 tumor predispositon syndrome | OMIM:614327 |
| Carney complex , type 1 | OMIM:160980 |
| DICER1 syndrome | OMIM:601200 |
| Tuberous sclerosis | OMIM:191100, OMIM:613254 |
| Gorlin syndrome | OMIM:109400 |
| Gardner syndrome | OMIM:175100 |
| Neurofibromatosis type 1 | OMIM:16200 |
| Neurofibromatosis type 2 | OMIM:10100 |
| Germline SMARCB1 or LZTR1 mutations | OMIM:609322 or OMIM:600574 |
| Multiple endocrine neoplasia type 2 | OMIM:171400 |
| Von Hippel -Lindau syndrome | OMIM:193300 |
| Hereditary paraganglioma-pheochromocytoma syndrome | OMIM:115310 |
| Carney-Stratakis syndrome | OMIM:606864 |
| Peutz-Jeghers syndrome | OMIM:175200 |
| Germline EGFRp.T790M | 1-3 |
| ERBB2 germline mutation | 4,5 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 24736066 | 2014 | Hereditary lung cancer syndrome targets never smokers with germline EGFR gene T790M mutations. | Gazdar A et al |
| 2 | 22588150 | 2012 | Polychlorinated biphenyls (PCBs) analysis using a miniaturized high-resolution time-of-flight mass spectrometer "MULTUM-S II". | Shimma S et al |
| 3 | 34590005 | 2021 | Genomic Evolution in a Patient With Lung Adenocarcinoma With a Germline EGFR T790M Mutation. | Mäkinen N et al |
| 4 | 30610926 | 2019 | EGFR and ERBB2 Germline Mutations in Chinese Lung Cancer Patients and Their Roles in Genetic Susceptibility to Cancer. | Lu S et al |
| 5 | 34274969 | 2021 | Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis. | McInerney-Leo AM et al |
Citation
Paola Dal Cin, PhD
Genetic tumor syndromes involving the thorax
Atlas Genet Cytogenet Oncol Haematol. 2023-05-12
Online version: http://atlasgeneticsoncology.org/solid-tumor/209136/genetic-tumor-syndromes-involving-the-thorax
