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Table 1 Hereditary cancer syndromes

From: Hereditary cancer risk assessment: essential tools for a better approach

Syndrome Gene Mutation status Penetrance Tumors
Hereditary breast and/or ovarian cancer BRCA1 Heterozygous High Breast cancer
BRCA2 Ovarian cancer
RAD51 (B,C,D) intermediate Pancreatic cancer
ATM intermediate Prostate cancer
CHEK2 intermediate Colorectal cancer
Lynch syndrome MLH1 Heterozygous High Colorectal cancer
MSH2 Endometrial cancer
MSH6 Ovarian cancer
PMS2 Gastric cancer
EPCAM
MMR cancer syndrome MMR genes Homozygous High Leukemia, lymphoma
Rhabdomyosarcoma
Familial adenomatous polyposis APC Heterozygous High Gastrointestinal adenomas
Colorectal cancer
Duodenal cancer
MYH-associated polyposis MUTYH Homozygous High Colorectal cancer
Polymerase proofreading-associated polyposis POLE Heterozygous High Colorectal cancer
POLD1 Endometrial cancer
Bloom syndrome BLM1 Homozygous High Leukemia
Colorectal cancer
Wilms tumor
Nijmegen syndrome NBS1 Homozygous High Lymphoma
Medulloblastoma
Rhabdomyosarcoma
Fanconi anemia FANC genes (includes BRCA2, PALB2, BRIP1) Homozygous High Leukemia
Medulloblastoma
Wilms tumor
Li-Fraumeni syndrome TP53 Heterozygous High Breast cancer
Li-Fraumeni like syndrome CHEK2   intermediate Sarcoma
Adrenocortical cancer
Brain tumor
Cowden syndrome PTEN Heterozygous High Hamartomatous polyps
Skin tumors
Breast cancer
Thyroid cancer
Endometrial cancer
Hereditary diffuse gastric cancer CDH1 Heterozygous High Diffuse gastric cancer
Lobular Breast cancer
Peutz-Jeghers syndrome STK11 Heterozygous High Hamartomatous polyps
Colorectal
Small bowel
Breast cancer
Pancreatic cancer
Juvenile polyposis SMAD4 Heterozygous High Hamartomatous polyps
BMPR1A Colorectal cancer
Pancreatic cancer
Melanoma syndromes CDKN2A Heterozygous High Malignant melanoma
CDK4 Pancreatic cancer
Neurofibromatosis NF1 Heterozygous High Vestibular schwannoma
NF2 Meningioma
Neurofibroma
Optic glioma
Tuberous sclerosis TSC1 Heterozygous High Renal angiomyolipoma
TSC2 Subependimoma
Giant cell astrocytoma
Von Hippel-Lindau syndrome VHL Heterozygous High Hemangioblastomas
  Renal cell cancer
Pheochromocytoma
Chuvash policitemia   Homozygous High Vertebral angiomas
Birt-Hogg-Dubè syndrome FLCN Heterozygous High Renal cell cancer
Skin tumors
Papillary renal cancer syndromes FH Heterozygous High Renal cell cancer
MET    
Retinoblastoma RB1 Heterozygous High Retinoblastoma
Hereditary Paraganglioma SDH (A, B, C, D) Heterozygous High Paraganglioma
Pheochromocytoma
Multiple Endocrine Neoplasia1 MEN1 Heterozygous High Pituitary adenoma
Multiple Endocrine Neoplasia2 RET    Parathyroid adenoma
Medular thyroid cancer
Pheochromocytoma