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 |