IllnessCancer predisposition for solid tumors, adults

NGS +

5-10% of cancers are due to hereditary causes. Recent data sets indicate that the incidence of hereditary cancer may be as high as 17.5% in patients with cancer. Identification of germline variants has implications for both patients + their families. Germline variants occur in germ cells. Although somatic variants occur in a single cell + are passed only to the cell’s offspring, germline variants exist in all somatic cells + may influence cancer susceptibility by affecting multiple cellular processes (e.g. cancer clone growth, somatic variant acquisition rates, carcinogen metabolism). Discovery + understanding of germline variants are of major clinical importance to the patient diagnosed with hereditary cancer; the identification of an inherited variant has often therapeutic + prognostic value for a patient undergoing therapy.

• Alias: Solid cancer predisposition genes
• Allelic: Adrenal adenoma, somatic (MEN1)
• Allelic: Angiofibroma, somatic (MEN1)
• Allelic: Ataxia-telangiectasia (ATM)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Fanconi anemia, complementation group S (BRCA1)
• Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Lipoma, somatic (MEN1)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Multiple endocrine neoplasia 1 (MEN1)
• Allelic: Parathyroid adenoma, somatic (MEN1)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• Adrenocortical carcinoma, pediatric (TP53)
• Basal cell carcinoma 7 (TP53)
• Breast cancer, somatic (TP53)
• Breast cancer, susceptibility to (ATM)
• Breast-ovarian cancer, familial, 1 (BRCA1)
• Carcinoid tumor of lung (MEN1)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Choroid plexus papilloma (TP53)
• Colorectal cancer (TP53)
• Cowden syndrome 1 (PTEN)
• DNA damage repair defect [panelapp] (ZNF668)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, AR 7 (ACD)
• Dyskeratosis congenita, XL (DKC1)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group P (SLX4)
• Glioma susceptibility 1 (TP53)
• Glioma susceptibility 2 (PTEN)
• Hepatocellular carcinoma, somatic (TP53)
• IUGR, short stature, failure to thrive, body asymmetry [panelapp] (NLRP5)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Li-Fraumeni syndrome (TP53)
• Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Lymphoma, mantle cell, somatic (ATM)
• Maternal effect gene causing phenotypes that include IUGR [panelapp] (NLRP2)
• Medullary thyroid carcinoma (RET)
• Meningioma (PTEN)
• Microcephaly, growth deficiency, global dev. delay, brain malformation [panelapp] (ZNF668)
• Multilocus imprinting disturbances [panelapp] (NLRP5)
• Multiple endocrine neoplasia IIA, IIB (RET)
• Nasopharyngeal carcinoma, somatic (TP53)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Osteosarcoma (TP53)
• Pancreatic cancer, somatic (TP53)
• Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Pheochromocytoma (RET)
• Prostate cancer, somatic (PTEN)
• Renal cell carcinoma, papillary (PRCC)
• Revesz syndrome (TINF2)
• Schwannomatosis-2, susceptibility to (LZTR1)
• T-cell prolymphocytic leukemia, somatic (ATM)
• Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)