Table 3.

Examples of DDR gene mutation associated hereditary disease

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