Genomics Precision Diagnostic > Oncology > Lung Cancer Precision Panel

Lung Cancer – 72 genes

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

Indication

Clinical Utility

Genes & Diseases

Methodology

References

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.

Indication

The Igenomix Lung Cancer Precision Panel is indicated as a screening and diagnostic test in those cases where there is:

Cough
Wheezing
Unintentional weight loss
Hemoptysis
Chest pain
Dyspnea
Horaseness
Family history of lung cancer

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; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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