Table 3 Examples of DDR gene mutation associated hereditary disease
From: A new wave of innovations within the DNA damage response
Hereditary disease | Symptom | Related mutant genes | Cancer predispositions |
|---|---|---|---|
Xeroderma Pigmentosum | Severe photosensitivity of the UV radiation-exposed regions of the skin; neurological abnormalities | POLK, ERCC5, ERCC2, ERCC4, ERCC3, POLH, DDB2, XPA, XPB, XPC, XPD | Skin cancers, angiomas, and sarcoma |
Ataxia Telangiectasia | Early onset progressive cerebellar ataxia; oculocutaneous telangiectasia; weakened immune system and hypersensitivity to ionizing radiation | ATM | Leukemia and lymphoma |
Nijmegen Breakage Syndrome | Short stature, distinctive facial features, recurrent respiratory tract infections, intellectual disability | NBS1 | Lymphoma |
Ataxia Telangiectasia-Like Disorder | Progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia | MRE11A | Lymphoma |
Seckel Syndrome | Growth retardation, very small head, blood abnormalities | ATR | Lymphomas, AML |
Bloom Syndrome | Proportional dwarfing; Immunodeficiency; Congenital erythema; Infertility; | BLM | Various solid and hematologic malignancies |
Werner Syndrome | Scleroderma-like skin; Cataract; Subcutaneous calcification; Premature arteriosclerosis; Prematurely aged facies; | WRN | Thyroid cancer, skin cancer, and sarcoma |
Rothmund-Thomson syndrome | Poikiloderma, keratosis; Short stature; Sparse hair; Cataracts; Skeletal abnormalities; | RECQL4 | Osteosarcoma, skin cancers |
Fanconi Anemia | Bone marrow failure, physical abnormalities, organ defects | FANCC, FANCA, FANCG, FANCF, FANCE, FANCD2, FANCL, XRCC1, SLX4, RAD51C | Leukemia, myelodysplastic syndrome, liver cancer |
Lynch syndrome | Cancer predisposition | MLH1, MSH2, MSH6, PMS2, MLH3 | Colon cancer |
Li-Fraumeni Syndrome | Cancer predisposition | TP53 | Brain tumors, osteosarcoma, leukemia, and adrenocortical carcinoma |
Breast Cancer Predisposition Syndromes | Cancer predisposition | BRCA1, BRCA2 | Breast cancer, prostate cancer, pancreatic cancer, ovarian cancer |
