176 - Cancer Predisposition Syndromes and Associated Genes

Syndrome Gene Chromosome Tumors Ataxia telangiectasia ATM  11q22-q23 Breast cancer Autoimmune lymphoproliferative syndrome FAS FASL 10q24 1q23 Lymphomas Bloom syndrome BLM  15q26.1 Cancer of all types Cowden syndrome PTEN  10q23 Breast, thyroid Familial adenomatous polyposis APC  5q21 Intestinal adenoma, colorectal cancer Familial melanoma p16INK4  9p21 Melanoma, pancreatic cancer Familial Wilms tumor WT1  11p13 Pediatric kidney cancer Hereditary breast/ovarian cancer BRCA1 BRCA2 17q21 13q12.3 Breast, ovarian, colon, prostate Hereditary diffuse gastric cancer CDH1  16q22 Stomach cancers Hereditary multiple exostoses EXT1 EXT2 8q24 11p11-12 Exostoses, chondrosarcoma Hereditary prostate cancer HPC1  1q24-25 Prostate carcinoma Hereditary retinoblastoma RB1  13q14.2 Retinoblastoma, osteosarcoma Hereditary nonpolyposis colon cancer (HNPCC) MSH2 MLH1 MSH6 PMS2 2p16 3p21.3 2p16 7p22 Colon, endometrial, ovarian, stomach, small bowel, ureter carcinoma Hereditary papillary renal carcinoma MET  7q31 Papillary renal tumor Juvenile polyposis SMAD4  18q21 Gastrointestinal, pancreatic cancers Li-Fraumeni TP53  17p13.1 Sarcoma, breast cancer Multiple endocrine neoplasia type 1 MEN1  11q13 Parathyroid, endocrine, pancreas, and pituitary Multiple endocrine neoplasia type 2a RET  10q11.2 Medullary thyroid carcinoma, pheochromocytoma Neurofibromatosis type 1 NF1  17q11.2 Neurofibroma, neurofibrosarcoma, brain tumor Neurofibromatosis type 2 NF2  22q12.2 Vestibular schwannoma, meningioma, spine Nevoid basal cell carcinoma syndrome (Gorlin's syndrome) PTCH  9q22.3 Basal cell carcinoma, medulloblastoma, jaw cysts Tuberous sclerosis TSC1 TSC2 9q34 16p13.3 Angiofibroma, renal angiomyolipoma Von Hippel–Lindau VHL  3p25-26 Kidney, cerebellum, pheochromocytoma

Note: All the above mentioned syndromes show Autosomal Dominant inheritance except Ataxia telangiectasia and bloom syndrome which are  Autosomal recessively inherited .