Genes recommended as yielding clinically actionable results by the American College of Medical Genetics and Genomics, the National Comprehensive Cancer Network, and the World Health Organization
| Disorder/syndrome . | Genes . |
|---|---|
| Hereditary breast and ovarian cancer | BRCA1, BRCA2 |
| Li-Fraumeni syndrome | TP53 |
| Peutz-Jeghers syndrome | STK11 |
| Lynch syndrome | MLH1, MSH2, MSH6, PMS2 |
| FAP | APC |
| MYH-associated polyposis; adenomas, multiple colorectal, FAP type 2; colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas | MUTYH |
| Juvenile polyposis | BMPR1A, SMAD4 |
| von Hippel–Lindau syndrome | VHL |
| Multiple endocrine neoplasia type 1 | MEN1 |
| Multiple endocrine neoplasia type 2 | RET |
| Familial medullary thyroid cancer | RET |
| PTEN hamartoma tumor syndrome | PTEN |
| Retinoblastoma | RB1 |
| Hereditary paraganglioma-pheochromocytoma syndrome | SDHAF2, SDHB, SDHC, SDHD |
| Tuberous sclerosis complex | TSC1, TSC2 |
| WT1-related Wilms tumor | WT1 |
| Neurofibromatosis type 2 | NF2 |
| Ehlers-Danlos syndrome, vascular type | COL3A1 |
| Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysms and dissections | ACTA2, FBN1, MYH11, SMAD3, TGFBR1, TGFBR2 |
| Hypertrophic cardiomyopathy, dilated cardiomyopathy | ACTC1, GLA, LMNA, MYBPC3, MYH7, MYL3, PRKAG2, TNNI3, TNNT2, TPM1, MYL2 |
| Catecholaminergic polymorphic ventricular tachycardia | RYR2 |
| Arrhythmogenic right ventricular cardiomyopathy | DSC2, DSG2, DSP, PKP2, TMEM43 |
| Romano-Ward long-QT syndrome types 1, 2, and 3; Brugada syndrome | KCNH2, KCNQ1, SCN5A |
| Familial hypercholesterolemia | APOB, LDLR, PCSK9 |
| Wilson disease | ATP7B |
| Ornithine transcarbamylase deficiency | OTC |
| Malignant hyperthermia susceptibility | CACNA1S, RYR1 |
| Familial MDS/AML | ANKRD26, CEBPA, DDX41, ETV6, GATA2, MBD4, MECOM/EVI1 PTPN11, RUNX1, SAMD9, SAMD9L, SRP72, TET2 |
| Inherited BM failure syndromes with germline predisposition to myeloid neoplasms | DKC1, DNAJC21, ELANE, EFL1, ERCC6L2, FANC genes, GFI1, HAX1, NAF1, NPM1, RAD51C, RECQl4, RTEL1, SBDS, SRP72, TERT, TERC |
| Inherited plasma cell disorders | ARID1A, DIS3, KDM1A, USP45 |
| Inherited syndromes associated with myeloid neoplasms | ATG2B/GSKIP, BLM, BRCA1, BRCA2, CBL, KRAS, NF1, PTPN11, TP53 |
| Disorder/syndrome . | Genes . |
|---|---|
| Hereditary breast and ovarian cancer | BRCA1, BRCA2 |
| Li-Fraumeni syndrome | TP53 |
| Peutz-Jeghers syndrome | STK11 |
| Lynch syndrome | MLH1, MSH2, MSH6, PMS2 |
| FAP | APC |
| MYH-associated polyposis; adenomas, multiple colorectal, FAP type 2; colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas | MUTYH |
| Juvenile polyposis | BMPR1A, SMAD4 |
| von Hippel–Lindau syndrome | VHL |
| Multiple endocrine neoplasia type 1 | MEN1 |
| Multiple endocrine neoplasia type 2 | RET |
| Familial medullary thyroid cancer | RET |
| PTEN hamartoma tumor syndrome | PTEN |
| Retinoblastoma | RB1 |
| Hereditary paraganglioma-pheochromocytoma syndrome | SDHAF2, SDHB, SDHC, SDHD |
| Tuberous sclerosis complex | TSC1, TSC2 |
| WT1-related Wilms tumor | WT1 |
| Neurofibromatosis type 2 | NF2 |
| Ehlers-Danlos syndrome, vascular type | COL3A1 |
| Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysms and dissections | ACTA2, FBN1, MYH11, SMAD3, TGFBR1, TGFBR2 |
| Hypertrophic cardiomyopathy, dilated cardiomyopathy | ACTC1, GLA, LMNA, MYBPC3, MYH7, MYL3, PRKAG2, TNNI3, TNNT2, TPM1, MYL2 |
| Catecholaminergic polymorphic ventricular tachycardia | RYR2 |
| Arrhythmogenic right ventricular cardiomyopathy | DSC2, DSG2, DSP, PKP2, TMEM43 |
| Romano-Ward long-QT syndrome types 1, 2, and 3; Brugada syndrome | KCNH2, KCNQ1, SCN5A |
| Familial hypercholesterolemia | APOB, LDLR, PCSK9 |
| Wilson disease | ATP7B |
| Ornithine transcarbamylase deficiency | OTC |
| Malignant hyperthermia susceptibility | CACNA1S, RYR1 |
| Familial MDS/AML | ANKRD26, CEBPA, DDX41, ETV6, GATA2, MBD4, MECOM/EVI1 PTPN11, RUNX1, SAMD9, SAMD9L, SRP72, TET2 |
| Inherited BM failure syndromes with germline predisposition to myeloid neoplasms | DKC1, DNAJC21, ELANE, EFL1, ERCC6L2, FANC genes, GFI1, HAX1, NAF1, NPM1, RAD51C, RECQl4, RTEL1, SBDS, SRP72, TERT, TERC |
| Inherited plasma cell disorders | ARID1A, DIS3, KDM1A, USP45 |
| Inherited syndromes associated with myeloid neoplasms | ATG2B/GSKIP, BLM, BRCA1, BRCA2, CBL, KRAS, NF1, PTPN11, TP53 |
AML, acute myeloid leukemia; FAP, familial adenomatous polyposis.
Recommendations were collected from Trottier et al,1 Arber et al,34 Kalia et al,35 and Greenberg et al.36