Lung Cancer
Lung cancer is the leading cause of cancer death worldwide, with 90% of cases being attributable to smoking. It is the second most common cancer, and it is a malignancy that affects either the lung tissue or the airways.
Overview
- Lung cancer is the leading cause of cancer death worldwide, with 90% of cases being attributable to smoking. It is the second most common cancer, and it is a malignancy that affects either the lung tissue or the airways. Risk factors for lung cancer include cigarette smoking, asbestos, radon and family history of lung cancer. Lung cancer can be sporadic or associated to a hereditary cancer syndrome.
- Hereditary cancer syndromes are encountered in all medical specialties. Although they account for about 5% of all malignancies, it is of special importance to identify these patients because, unlike patients with sporadic cancers, they require special, long-term care as their predisposition can cause them to develop certain tumors at a relatively early age. Most hereditary cancers are associated with a “germline mutation” that will be present in every cell of the human body. Identification of patients at risk of inherited cancer susceptibility is dependent upon the ability to characterize genes and alterations associated with increased cancer risk as well as gathering a detailed personal and family history aiding in the identification of the mode of inheritance as well as other family members at risk of suffering from this susceptibility. Most hereditary cancer syndromes follow an autosomal dominant inheritance, and the penetrance is high.
- The Igenomix Lung Cancer Precision Panel provides a comprehensive analysis of the most common genes responsible for the development of a malignant growth in the airways or lung tissue using next-generation sequencing (NGS) to fully understand the spectrum of relevant lung cancer predisposition genes.
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis of a patient with personal or family history suggestive of a hereditary cancer syndrome with predisposition to lung cancer.
- Early initiation of treatment with a multidisciplinary team for appropriate total body screening, early surgical intervention, or pharmacologic treatment.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance
- Reduce morbidity related to lung cancer, or morbidity secondary to complications of surveillance and treatment.
- Categorization of genetic alterations into predictive levels of standard, investigational or hypothetic target therapies in the molecular pathology reports.
- Improved pathways from diagnosis to treatment in susceptible populations.
See all genes and diseases
| Gene | OMIM Diseases | Inheritance* | % Gene Coverage (20x) | HGMD** |
| ABL1 | Congenital Heart Defects And Skeletal Malformations Syndrome, Chronic Myeloid Leukemia |
AD |
99.93 |
8 of 8 |
| AKT1 | Breast Cancer , Colorectal Cancer , Cowden Syndrome, Proteus Syndrome, Suppressor Of Tumorigenicity |
AD |
100 |
6 of 6 |
| ALK | Neuroblastoma |
99.84 |
16 of 16 | |
| APC | Colorectal Cancer , Desmoid Disease, Hereditary , Familial Adenomatous Polyposis, Gastric Cancer, Hepatocellular Carcinoma, APC-Related Attenuated Familial Adenomatous Polyposis, Cenani-Lenz Syndrome |
AD |
98.92 |
1846 of 1882 |
| AR | Androgen Insensitivity Syndrome, Prostate Cancer, Reifenstein Syndrome, Kennedy Disease |
AD,X,XR,G |
97.96 |
– |
| ARID1A | Coffin-Siris Syndrome |
AD |
95.32 |
40 of 42 |
| ASXL1 | Bohring-Opitz Syndrome, Myelodysplastic Syndrome, Systemic Mastocytosis With Associated Hematologic Neoplasm |
AD |
99.96 |
41 of 41 |
| ATM | Ataxia-Telangiectasia, Breast Cancer |
AD,AR |
99.93 |
1608 of 1632 |
| AXL | Hypogonadotropic Hypogonadism Without Anosmia |
AR |
100 |
10 of 10 |
| BRAF | Cardiofaciocutaneous Syndrome, Leopard Syndrome, Lung Cancer |
AD |
100 |
80 of 80 |
| CASP8 | Breast Cancer, Caspase 8 Deficiency, Hepatocellular Carcinoma, Lung Cancer |
AD,AR |
100 |
8 of 8 |
| CDH1 | Blepharocheilodontic Syndrome, Breast Cancer, Endometrial Carcinoma, Gastric Cancer, Prostate Cancer, Suppressor Of Tumorigenicity |
AD |
100 |
361 of 363 |
| CDK4 | Familial Melanoma, Well-Differentiated Liposarcoma |
AD |
100 |
22 of 22 |
| CDKN2A | Melanoma-Astrocytoma Syndrome , Melanoma- Pancreatic Cancer Syndrome, Li-Fraumeni Syndrome |
AD |
94.99 |
257 of 262 |
| CTNNB1 | Colorectal Cancer, Hepatocellular Carcinoma, Suppressor Of Tumorigenicity, Desmoid Tumor |
AD,AR |
100 |
63 of 63 |
| CYP2A6 | Lung Cancer |
AD |
100 |
– |
| DDR2 | Spondylometaepiphyseal Dysplasia, Short Limb-hand Type, Warburg-Cinotti Syndrome |
AD,AR |
100 |
13 of 13 |
| EGFR | Lung Cancer |
AD,AR |
100 |
27 of 27 |
| ERBB2 | Gastric Cancer, Glioma Susceptibility, Lung Cancer |
AD |
96.97 |
10 of 10 |
| ERCC6 | Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome, De Sanctis- Cacchione Syndrome, Lung Cancer |
AD,AR |
99.98 |
127 of 128 |
| FASLG | Autoimmune Lymphoproliferative Syndrome, Lung Cancer |
AD |
99.98 |
8 of 9 |
| FGFR1 | Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome |
AD |
100 |
279 of 280 |
| FGFR2 | Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis, Apert Syndrome, Crouzon Syndrome, Gastric Cancer, Jackson-Weiss Syndrome, Pfeiffer Syndrome, Saethre- Chotzen Syndrome |
AD |
98 |
140 of 143 |
| FGFR3 | Bladder Cancer, Cervical Cancer, Colorectal Cancer, Crouzon Syndrome With Acanthosis Nigricans, Muenke Syndrome, Testicular Tumor |
AD,AR |
99.89 |
77 of 78 |
| FGFR4 | Prostate Cancer, Neuroendocrine Carcinoma |
– |
98.59 |
2 of 2 |
| GNA11 | Hypocalciuric Hypercalcemia, Familial, Uveal Melanoma |
AD |
92.08 |
11 of 12 |
| GNAQ | Sturge-Weber Syndrome, Uveal Melanoma |
AD |
99.97 |
3 of 3 |
| GNAS | McCune-Albright Syndrome |
AD |
99.95 |
263 of 273 |
| HRAS | Bladder Cancer, Costello Syndrome, Schimmelpenning- Feuerstein-Mims Syndrome |
AD |
100 |
34 of 34 |
| IDH1 | Glioma Susceptibility, Maffucci Syndrome, Ollier Disease |
AD |
100 |
4 of 4 |
| IDH2 | D-2-Hydroxyglutaric Aciduria 2, Maffucci Syndrome, Ollier Disease |
AD |
99.99 |
4 of 4 |
| IRF1 | Gastric Cancer, Lung Cancer |
AD |
100 |
– |
| JAK2 | Myelofibrosis With Myeloid Metaplasia, Budd-Chiari Syndrome |
AD,AR |
99.63 |
25 of 27 |
| JAK3 | Severe Combined Immunodeficiency |
AR |
99.98 |
86 of 88 |
| KDM6A | Kabuki Syndrome |
AD,X,XD,G |
99.98 |
– |
| KDR | Capillary Infantile Hemangioma |
AD |
100 |
26 of 26 |
| KIT | Gastrointestinal Stromal Tumor, Testicular Tumor, Bullous Diffuse Cutaneous Mastocytosis, Systemic Mastocytosis With Associated Hematologic Neoplasm |
AD |
100 |
112 of 112 |
| KMT2A | Cornelia De Lange Syndrome, Wiedemann-Steiner Syndrome |
AD |
98.14 |
144 of 149 |
| KMT2C | Kleefstra Syndrome |
AD |
98.76 |
55 of 59 |
| KMT2D | Kabuki Syndrome |
AD |
99.71 |
839 of 847 |
| KRAS | Bladder Cancer, Breast Cancer, Gastric Cancer, Acute Myeloid Leukemia, Lung Cancer, Pancreatic Cancer, Ras-Associated Autoimmune Lymphoproliferative Syndrome, Schimmelpenning- Feuerstein-Mims Syndrome, Cardiofaciocutaneous Syndrome, Encephalocraniocutaneous Lipomatosis, Familial Pancreatic Carcinoma, Linear Nevus Sebaceus Syndrome, Lynch Syndrome, Toriello- Lacassie-Droste Syndrome |
AD |
100 |
38 of 38 |
| MAP2K1 | Cardiofacio- cutaneous Syndrome, Isolated Melorheostosis |
AD |
100 |
31 of 31 |
| MAP3K8 | Lung Cancer |
AD |
99.91 |
1 of 1 |
| MET | Hepatocellular Carcinoma, Osteofibrous Dysplasia, Renal Cell Carcinoma |
AD,AR |
99.8 |
41 of 41 |
| MLH1 | Mismatch Repair Cancer Syndrome , Muir-Torre Syndrome, Lynch Syndrome |
AD,AR |
99.94 |
1079 of 1118 |
| MTOR | Focal Cortical Dysplasia Of Taylor, Smith-Kingsmore Syndrome, Macrocephaly- Intellectual Disability- Neurodevelopmental Disorder-Small Thorax Syndrome |
AD |
99.98 |
39 of 39 |
| NF1 | Juvenile Myelomonocytic Leukemia, Neurofibromatosis- Noonan Syndrome, Watson Syndrome |
AD |
97.97 |
3082 of 3166 |
| NOTCH1 | Adams-Oliver Syndrome |
AD |
99.83 |
178 of 179 |
| NRAS | Colorectal Cancer, Neurocutaneous Melanosis, Ras- Associated Autoimmune Lymphoproliferative Syndrome, Schimmelpenning- Feuerstein-Mims Syndrome |
AD |
100 |
15 of 15 |
| NTRK3 | Fibrosarcoma, Congenital Mesoblastic Nephroma |
– |
94.93 |
7 of 7 |
| PDGFRA | Gastrointestinal Stromal Tumor/Gist- Plus Syndrome, Hypereosinophilic Syndrome |
AD |
100 |
24 of 24 |
| PDGFRB | Basal Ganglia Calcification, Kosaki Overgrowth Syndrome, Myeloproliferative Disorder, Chronic, With Eosinophilia, Infantile Myofibromatosis |
AD |
99.64 |
28 of 28 |
| PIK3CA | Breast Cancer, Colorectal Cancer, Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi, Cowden Syndrome, Gastric Cancer, Hepatocellular Carcinoma, Lung Cancer |
AD |
99.58 |
54 of 58 |
| PIK3R1 | Agammaglobulinemia, Immunodeficiency, Short Syndrome |
AD,AR |
99.89 |
29 of 29 |
| PPP2R1B | Lung Cancer |
AD |
100 |
2 of 2 |
| PRKN | Lung Cancer, Suppressor Of Tumorigenicity |
AD,AR |
100 |
– |
| PTCH1 | Basal Cell Carcinoma, Basal Cell Nevus Syndrome, Gorlin Syndrome |
AD |
98.89 |
498 of 502 |
| PTEN | Cowden Disease, Prostate Cancer, Bannayan-Riley- Ruvalcaba Syndrome, Lhermitte-Duclos Disease, Proteus Syndrome |
AD |
99.97 |
609 of 629 |
| PTPN11 | Juvenile Myelomonocytic Leukemia, Leopard Syndrome, Metachondromatosis |
AD |
100 |
150 of 151 |
| RB1 | Bladder Cancer, Osteosarcoma, Retinoblastoma, Small Cell Cancer Of The Lung |
AD |
99.41 |
941 of 995 |
| RET | Multiple Endocrine Neoplasia, Pheochromocytoma , Thyroid Carcinoma, Haddad Syndrome |
AD |
100 |
453 of 454 |
| ROS1 | Lung Cancer, Lung Larce Cell Carcinoma, Adenocarcinoma |
– |
99.86 |
5 of 5 |
| SLC22A18 | Breast Cancer, Lung Cancer, Rhabdomyosarcoma |
AD,AR |
99.98 |
1 of 1 |
| SMAD4 | Myhre Syndrome, Pancreatic Cancer, Hereditary Hemorrhagic Telangiectasia |
AD |
99.56 |
136 of 136 |
| SMARCA4 | Coffin-Siris Syndrome, Rhabdoid Tumor Predisposition Syndrome |
AD |
100 |
68 of 69 |
| SMARCB1 | Coffin-Siris Syndrome, Rhabdoid Tumor Predisposition Syndrome, Schwannomatosis, Coffin-Siris Syndrome |
AD |
100 |
97 of 99 |
| SMO | Basal Cell Carcinoma, Congenital Hypothalamic Hamartoma Syndrome Curry-Jones Syndrome |
AR |
94.03 |
10 of 10 |
| STK11 | Pancreatic Cancer, Peutz-Jeghers Syndrome, Testicular Tumor |
AD |
81.99 |
456 of 470 |
| TP53 | Adrenocortical Carcinoma, Basal Cell Carcinoma, Breast Cancer, Colorectal Cancer, Glioma, Hepatocellular Carcinoma, Li-Fraumeni Syndrome |
AD,MU,P |
98.92 |
557 of 563 |
| TSC1 | Lymphangiolei- omyomatosis, Tuberous Sclerosis Complex |
AD |
99.86 |
390 of 406 |
| TSHR | Familial Gestational Hyperthyroidism, Nonautoimmune Hyperthyroidism |
AD,AR |
99.94 |
160 of 160 |
| VHL | Renal Cell Carcinoma, Von Hippel-Lindau Syndrome |
AD,AR |
100 |
511 of 544 |
*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial.
**Number of clinically relevant mutations according to HGMD
References
Parikh A. R. (2019). Lung Cancer Genomics. Acta medica academica, 48(1), 78–83. https://doi.org/10.5644/ama2006-124.244
National Comprehensive Cancer Network. (2021). Retrieved from https://www.nccn.org/professionals/physician_gls/default.aspx#detection
Lara-Guerra, H., & Roth, J. A. (2016). Gene Therapy for Lung Cancer. Critical reviews in oncogenesis, 21(1-2), 115–124. https://doi.org/10.1615/CritRevOncog.2016016084
Tímár, J., Méhes, G., & Vass, L. (2020). A tüdőrák molekuláris diagnosztikájának modern szemlélete és klinikai jelentősége [Molecular diagnostics of lung cancer and its clinical relevance]. Magyar onkologia, 64(3), 183–189.
Nishimura, T., Nakamura, H., Végvári, Á., Marko-Varga, G., Furuya, N., & Saji, H. (2019). Current status of clinical proteogenomics in lung cancer. Expert review of proteomics, 16(9), 761–772. https://doi.org/10.1080/14789450.2019.1654861
