IllnessCancer precaution panel, genetic [private medical service]

NGS +

Up to 10% of all cancers are hereditary, i.e. at least one mutation was transmitted from at least one parent. A hereditary cancer syndrome is a genetic predisposition to certain cancers, often occurring at a young age and caused by inherited pathogenic variants in one or more genes. Although a mutation is defined as any change in the DNA sequence that deviates from normal, a pathogenic variant or deleterious mutation is a genetic change that increases a person's predisposition to a particular disease or disorder. Often, these predisposing pathogenic variants also lead to cancer that affects multiple organs in the same individual or family. Genetic testing of malignant tumor tissue (somatic) is increasingly used in oncology to identify potential targeted therapies for cancer treatment. Most hereditary cancer syndromes have an autosomal dominant mode of inheritance. Cancers commonly encountered by gynecologists, such as breast, ovarian, endometrial and colon cancers, may be part of a specific hereditary cancer syndrome. The most common hereditary cancers among the >50 syndromes include hereditary breast and ovarian cancer, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, hereditary diffuse gastric cancer, von Hippel-Lindau syndrome and in children, retinoblastoma and Wilms tumor. This hereditary cancer risk panel includes more than 100 genes to identify individuals (and families) at increased risk for developing certain cancers. The overall diagnostic yield is still unknown. A negative molecular genetic result does not rule out predisposition to cancer.

Reference: doi 10.1097/01.JAA.0000721648.46099.2c

• Genetic test for cancer prevention
• Tumor panel
• Allelic: Blepharocheilodontic syndrome 1 (CDH1)
• Allelic: COMMAD syndrome (MITF)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Desmoid disease, hereditary (APC)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: FILS [Facial dysmorphism, Immunodeficiency, Livedo, Short stature] syndrome (POLE)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
• Allelic: Fumarase deficiency (FH)
• Allelic: Hirschsprung disease, protection against (RET)
• Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Hyperparathyroidism, familial primary (CDC73)
• Allelic: IMAGE-I syndrome (POLE)
• Allelic: Kury-Isidor syndrome (BAP1)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
• Allelic: Mirror movements 2 (RAD51)
• Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
• Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
• Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
• Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
• Allelic: Piebaldism (KIT)
• Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: Seizures, scoliosis + macrocephaly syndrome (EXT2)
• Allelic: Tietz albinism-deafness syndrome (MITF)
• Allelic: Waardenburg syndrome, type 2A (MITF)
• Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
• Acrodysostosis 1, with/-out hormone resistance (PRKAR1A) 3
• Adenomas, multiple colorectal (MUTYH)
• Adenomatous polyposis coli (APC)
• Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Coffin-Siris syndrome 3 (SMARCB1)
• Allelic: Coffin-Siris syndrome 4 (SMARCA4)
• Allelic: Coffin-Siris syndrome 5 (SMARCE1)
• Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
• Allelic: Erythrocytosis, familial, 2 (VHL)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Premature ovarian failure 17 (XRCC2)
• Allelic: Spermatogenic failure 50 (XRCC2)
• Aplastic anemia (NBN)
• Ataxia-telangiectasia (ATM)
• Baller-Gerold syndrome (RECQL4)
• Basal cell carcinoma 7 (TP53)
• Basal cell nevus syndrome (PTCH1)
• Basal cell nevus syndrome (SUFU)
• Birt-Hogg-Dube syndrome (FLCN)
• Bloom syndrome (BLM)
• Brain tumor-polyposis syndrome 2 (APC)
• Breast cancer, early-onset, susceptibility to (BRIP1)
• Breast cancer, male, susceptibility to (BRCA2)
• Breast cancer, susceptibility to (PALB2)
• Breast cancer, susceptibility to (ATM)
• Breast cancer, susceptibility to (CHEK2)
• Breast cancer, susceptibility to (RAD51)
• Breast-ovarian cancer, familial, 1 (BRCA1)
• Breast-ovarian cancer, familial, 2 (BRCA2)
• Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Breast-ovarian cancer, familial, susceptibility to, 4 (RAD51D)
• Brooke-Spiegler syndrome (CYLD)
• Carcinoid tumor of lung (MEN1)
• Carney complex, type 1 (PRKAR1A)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrooculofacioskeletal syndrome 3 (ERCC5)
• Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Chondrosarcoma (EXT1)
• Choroid plexus papilloma (TP53)
• Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Colorectal cancer, susceptibility to (CHEK2)
• Colorectal cancer, susceptibility to, 10 (POLD1)
• Colorectal cancer, susceptibility to, 12 (POLE)
• Costello syndrome (HRAS)
• Cowden syndrome 1 (PTEN)
• Cowden syndrome 6 (AKT1)
• Cowden syndrome 7 (SEC23B)
• Cylindromatosis, familial (CYLD)
• Denys-Drash syndrome (WT1)
• Diffuse gastric + lobular breast cancer syndrome with/-out cleft lip +/- palate (CDH1)
• Endometrial cancer, familial (MSH6)
• Exostoses, multiple, type 1 (EXT1)
• Exostoses, multiple, type 2 (EXT2)
• Familial adenomatous polyposis 3 (NTHL1)
• Familial adenomatous polyposis 4 (MSH3)
• Fanconi anemia, complementation group A-M (FANCA-FANCM)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group R (RAD51)
• Fanconi anemia, complementation group S (BRCA1)
• Fanconi anemia, complementation group T (UBE2T)
• Fanconi anemia, complementation group U (XRCC2)
• Frasier syndrome (WT1)
• Gardner syndrome (APC)
• Gastrointestinal stromal tumor (SDHB)
• Gastrointestinal stromal tumor (SDHC)
• Gastrointestinal stromal tumor, familial (KIT)
• Glioblastoma 3 (BRCA2)
• Glioma susceptibility 1 (TP53)
• Glioma susceptibility 2 (PTEN)
• Glioma susceptibility 9 (POT1)
• Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Hereditary mixed polyposis syndrome [panelapp] (GREM1)
• Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Joubert syndrome 32 (SUFU)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• LIG4 syndrome (LIG4)
• Leiomyomatosis and renal cell cancer (FH)
• Leukemia, acute lymphoblastic (NBN)
• Leukemia, juvenile myelomonocytic (NF1)
• Lhermitte-Duclos disease (PTEN)
• Li-Fraumeni syndrome 2 (CHEK2)
• Lymphangioleiomyomatosis (TSC1)
• Mastocytosis, cutaneous (KIT)
• Meacham syndrome (WT1)
• Medullary thyroid carcinoma (RET)
• Medulloblastoma (BRCA2)
• Medulloblastoma, desmoplastic (SUFU)
• Melanoma + neural system tumor syndrome (CDKN2A)
• Melanoma, cutaneous malignant, 2 (CDKN2A)
• Melanoma, cutaneous malignant, 3 (CDK4)
• Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
• Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
• Melanoma-pancreatic cancer syndrome (CDKN2A)
• Meningioma (PTEN)
• Meningioma, familial, susceptibility to (SMARCE1)
• Meningioma, familial, susceptibility to (SUFU)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Muir-Torre syndrome (MLH1)
• Muir-Torre syndrome (MSH2)
• Multiple endocrine neoplasia (MEN1)
• Multiple endocrine neoplasia IIA (RET)
• Multiple endocrine neoplasia IIB (RET)
• Multiple endocrine neoplasia, type IV (CDKN1B)
• Multiple myeloma, resistance to (LIG4)
• Myxoma, intracardiac (PRKAR1A)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Neurofibromatosis-Noonan syndrome (NF1)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome 2, 10 (LZTR1)
• Osteofibrous dysplasia, susceptibility to (MET)
• Osteosarcoma (TP53)
• Pancreatic cancer 2 (BRCA2)
• Pancreatic cancer, susceptibility to, 3 (PALB2)
• Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Pancreatitis, hereditary (PRSS1)
• Paraganglioma + gastric stromal sarcoma (SDHB)
• Paraganglioma + gastric stromal sarcoma (SDHC)
• Paraganglioma and gastric stromal sarcoma (SDHD)
• Paragangliomas 1, with/-out deafness (SDHD)
• Paragangliomas 2 (SDHAF2)
• Paragangliomas 3 (SDHC)
• Paragangliomas 4 (SDHB)
• Paragangliomas 5 (SDHA)
• Parathyroid adenoma with cystic changes (CDC73)
• Parathyroid carcinoma (CDC73)
• Peutz-Jeghers syndrome (STK11)
• Pheochromocytoma (RET)
• Pheochromocytoma (SDHB)
• Pheochromocytoma (SDHD)
• Pheochromocytoma (VHL)
• Pheochromocytoma, susceptibility to (MAX)
• Pheochromocytoma, susceptibility to (TMEM127)
• Pituitary adenoma 1, multiple types (AIP)
• Pituitary adenoma predisposition (AIP)
• Pleuropulmonary blastoma (DICER1)
• Polyposis syndrome, hereditary mixed, 2(BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Polyposis, juvenile intestinal (BMPR1A)
• Prostate cancer (BRCA2)
• Prostate cancer, familial, susceptibility to (CHEK2)
• Prostate cancer, susceptibility to (CDH1)
• RAPADILINO syndrome (RECQL4)
• Renal cell carcinoma, papillary (PRCC)
• Retinoblastoma (RB1)
• Retinoblastoma, trilateral (RB1)
• Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Rhabdomyosarcoma, embryonal, 2 (DICER1)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Schwannomatosis-1, susceptibility to (SMARCB1)
• Schwannomatosis-2, susceptibility to (LZTR1)
• Trichoepithelioma, multiple familial, 1 (CYLD)
• Trichothiodystrophy 1, photosensitive (ERCC2)
• Trichothiodystrophy 2, photosensitive (ERC3)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Tumor predisposition syndrome (BAP1)
• Watson syndrome (NF1)
• Werner syndrome (WRN)
• Wilms tumor (BRCA2)
• Wilms tumor, type 1 (WT1)
• XFE progeroid syndrome (ERCC4)
• Xeroderma pigmentosum, group A (XPA)
• Xeroderma pigmentosum, group B (ERC3)
• Xeroderma pigmentosum, group C (XPC)
• Xeroderma pigmentosum, group D (ERCC2)
• Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
• Xeroderma pigmentosum, group F (ERCC4)
• Xeroderma pigmentosum, group G (ERCC5)
• Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
• Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
• Xeroderma pigmentosum, variant type (POLH)
• von Hippel-Lindau syndrome (VHL)