Table 1.
Genes related to cancer phenotypes in the American College of Medical Genetics and Genomics secondary findings v3.0 gene list.
| Phenotype | Gene | Inheritance |
|---|---|---|
| Familial adenomatous polyposis | APC | AD |
|
| ||
| Multiple endocrine neoplasia type 1, familial medullary thyroid cancer | RET | AD |
|
| ||
| Hereditary breast and/or ovarian cancer | BRCA1, BRCA2, PALB2 | AD |
|
| ||
| Hereditary paraganglioma-phaeochromocytoma syndrome | SDHD, SDHA, SDHAF2, SDHC, SDHB, MAX, TMEM127 | AD |
|
| ||
| Juvenile polyposis syndrome | BMPR1A, SMAD4 | AD |
|
| ||
| Li-Fraumeni syndrome | TP53 | AD |
|
| ||
| Lynch syndrome | MLH1, MSH2, MSH6, PMS2, EPCAM | AD |
|
| ||
| Multiple endocrine neoplasia type 1 | MEN1 | AD |
|
| ||
| MUTYH-associated polyposis | MUTYH | AR |
|
| ||
| Neurofibromatosis type 2 | NF2 | AD |
|
| ||
| Peutz-Jeghers syndrome | STK11 | AD |
|
| ||
| PTEN hamartoma tumour syndrome | PTEN | AD |
|
| ||
| Retinoblastoma | RB1 | AD |
|
| ||
| Tuberous sclerosis syndrome | TSC1, TSC2 | AD |
|
| ||
| Von Hippel-Lindau syndrome | VHL | AD |
|
| ||
| WT1-related Wilms tumour | WT1 | AD |
AD: autosomal dominant, AR: autosomal recessive