Syndrome (s) Gene (s) Inheritance Principal tumors Hereditary breast and ovarian cancer BRCA1 BRCA2 Autosomal dominant Breast cancer Ovarian cancer Pancreatic cancer Prostate cancer Lynch syndrome (formerly HNPCC) includes Muir-Torre, Turcot syndrome MLH1 MSH2 MSH6 PMS2 EPCAM Autosomal dominant Colorectal cancer Endometrial cancer Ovarian cancer Gastric cancer Urothelial/biliar tract cancer Familial adenomatous polyposis (includes Gardner syndrome) APC Autosomal dominant Gastrointestinal adenomas Colorectal cancer Duodenal cancer MYH-associated polyposis MUTYH Autosomal recessive Colorectal cancer Li-Fraumeni syndrome TP53 Autosomal dominant Sarcoma Adrenocortical cancer Brain tumor (include choroid plexus) Breast cancer Cowden syndrome PTEN Autosomal dominant Skin tumors Breast cancer Thyroid cancer Endometrial cancer Hereditary diffuse gastric cancer CDH1 Autosomal dominant Gastric cancer (diffuse) Breast cancer (lobular) Peutz-Jeghers syndrome STK11 Autosomal dominant Colorectal Small bowel Breast cancer Pancreatic cancer Juvenile polyposis SMAD4 BMPR1A Autosomal dominant Colorectal cancer Pancreatic cancer Melanoma syndromes CDKN2A (p16) CDK4 Autosomal dominant Malignant melanoma Pancreatic cancer Neurofibromatosis NF1 NF2 Autosomal dominant Schwannoma (vestibular) Meningioma Neurofibroma Optic glioma Tuberous sclerosis TSC1 TSC2 Autosomal dominant Renal angiomyolipoma Subependimoma Astrocytoma(giant cell) Von Hippel-Lindau syndrome VHL Autosomal dominant Hemangioblastoma (CNS, retina) Renal cell cancer Pheochromocytoma Birt-Hogg-Dube syndrome FLCN Autosomal dominant Renal cell cancer Skin tumors Papillary renal cancer syndromes FH MET Autosomal dominant Renal cell cancer Retinoblastoma RB1 Autosomal dominant Retinoblastoma Osteosarcoma Hereditary Paraganglioma SDHA SDHB SDHC SDHD Autosomal dominant Paraganglioma Pheochromocytoma MEN1 MEN2 MEN1 RET Autosomal dominant Pituitary adenoma Parathyroid adenoma Thyroid cancer (medular) Pheochromocytoma HNPCC: Hereditary Non Polyposis Colon Cancer MEN: Multiple Endocrine Neoplasia

Table 1: Hereditary cancer syndromes.