Empower gene table with cancer risk recommendations
Select the Empower gene panel of interest from the “Filter by Panel” dropdown menu, then hit Apply to view the included genes (listed in alphabetical order). Search for a particular gene of interest in the “Search by Gene” box. Hit the Reset button between new searches.
The information shown is based on the latest publication data available, and a PubMed identification (PMID) number is listed for each risk association. We will update this table regularly as new data becomes available.
For desktop viewing: hover your mouse over a colored dot to view how a gene mutation confers risk for each of 12+ hereditary cancer types within a pop-up box. To scroll for more information within a pop-up box, pause your mouse on the colored dot, then shift horizontally over to the pop-up box.
Gene | Breast | Ovarian | Endometrial | Colorectal | Melanoma | Pancreatic | Gastric | Prostate | Renal | Other | Panels | Resources |
---|---|---|---|---|---|---|---|---|---|---|---|---|
AIP | Increased in mutation carriers who also have a diagnosis of acromegaly | Pituitary adenoma: Increased | Comprehensive (81 genes) | PMID: 22720333, 23371967 | ||||||||
ALK | Neuroblastic tumor: Increased | Comprehensive (81 genes) | PMID: 28674118, 20301782 | |||||||||
APC | Without removal of colon for FAP: up to 100% | 0.1-7.1% | Thyroid: <2% | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 PMID: 24213224, 28185118, 26819281 | |||||||
APC (p.I1307K) | 5-10% | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 | |||||||||
APC GAPPS | Unknown (insufficient data) | 12-25% | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 | ||||||||
ATM | Female: 20-30%* | 2-3% | Possibly increased | ~5-10% | Possibly increased | Possibly increased | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 PMID 15928302, 26662178 | ||||
AXIN2 | Unknown; not enough data to define | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 21416598 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 | |||||||||
BAP1 | Cutaneous melanoma (skin): ~15%; uveal melanoma (eye): ~30% | 9-10% | Malignant mesothelioma: 22% | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 26096145, 28793149, 27748099 | |||||||
BARD1 | Female: 17-30% | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 | |||||||||
BMPR1A | 40-50% | Up to 21% if multiple polyps present | Small bowel: Rare, currently undefined | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 | |||||||
BRCA1 | Female: >60% | 39-58% | Possibly slightly increased (limited data) | =5% | 7-26% | BRCA1 and BRCA2 (2 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023 PMID 20301425 | |||||
BRCA2 | Female: >60% | 13-29% | Increased | 5-10% | 19-61% | BRCA1 and BRCA2 (2 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023 PMID 20301425 | |||||
BRIP1 | Female: Possibly increased (not enough data to define risk) | 5-15% | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and
Pancreatic V.1.2023 | ||||||||
CDC73 | Non-cancerous/cancerous uterine tumors combined: > 50% | Renal tumors: ~13-15% | Hyperparathyroidism: up to 87% | Comprehensive (81 genes) | PMID: 31929790, 26450137 | |||||||
CDH1 | Female: 39-52% | Female: Possibly increased | Female: 83% | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID 25979631 Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2021 | |||||||
CDK4 | Increased | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 26892650 | |||||||||
CDKN1B | Hyperparathyroidism & parathyroid tumors: ~80% | Comprehensive (81 genes) | PMID: 28824003, 30990521 | |||||||||
CDKN1C | Wilms tumor: 1.4% | Hepatoblastoma: Increased | Comprehensive (81 genes) | PMID: 20301568, 16010495, 29377879 | ||||||||
CDKN2A (p16INK4a) | 28-76% | >15% | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 16234564, 12072543, 26892650, 24935963, NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023 | ||||||||
CEBPA | Acute myeloid leukemia: Significantly increased | Comprehensive (81 genes) | PMID: 26162409, 20963938 | |||||||||
CHEK2 | Female: 20-40% | 5-10% | Possibly increased | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.2.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 | |||||||
CHEK2 (p.I157T) | Female: <20% | 5-10% | Possibly increased | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.2.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 PMID: 22799331 | |||||||
CYLD | Cylindroma, spiradenoma, or trichoepithelioma: Significantly increased | Comprehensive (81 genes) | PMID: 34744449, 32298062 | |||||||||
DDX41 | Myeloid and lymphoid blood cancers: Increased | Comprehensive (81 genes) | PMID: 34723452, 34349893 | |||||||||
DICER1 | Sex cord stromal tumors: Increased; onset in childhood | Benign kidney tumors: Increased; onset in childhood | Thyroid: Increased; onset in adulthood PMID: 29343557, 24761742 | Comprehensive (81 genes) | PMID: 24761742, 29343557 | |||||||
EGFR (T790M) | Lung: Increased, up to 31% | Comprehensive (81 genes) | PMID: 24736066, 34164592 | |||||||||
EPCAM | 8-38% | 21-57% | 33-52% | 0.2-9% | 3.9- 23.8% | 2.2- 28% | Biliary tract: 0.02%-1.7% | Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647 | |||
EXT1 | Osteochondromas: ~96% | Comprehensive (81 genes) | PMID: 20301413, 8027127, 22258776, 25582066 | |||||||||
EXT2 | Osteochondromas: ~96% | Comprehensive (81 genes) | PMID: 20301413, 8027127, 22258776, 25582066 | |||||||||
FH | 10-19% (most commonly papillary RCC) | Paraganglioma and pheochromocytoma: increased in association with particular variants | Comprehensive (81 genes) | PMID: 12772087, 28300276, 25012257, 20301430 | ||||||||
FLCN | Possibly increased | Possibly increased | 19-41% (includes multiple tumor types: chromophobe, clear cell, hybrid oncocytic,
| Comprehensive (81 genes) | PMID: 20301695, 11927500, 22146830, 30586397, 30845233, 18234728, 26334087, 20522427, 20392993, 20413710, 19959076 | |||||||
GATA2 | Myelodysplastic syndrome/acute myeloid leukemia: Increased | PMID: 22691122 | Comprehensive (81 genes) | PMID: 22691122, 25397911 | |||||||||
GREM1 | 11-20% | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 22561515 | |||||||||
HOXB13 (G84E) | 33-60% | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 26517352, 22841674, 25595936, 23457453, 29236593 | |||||||||
KIT | Gastrointestinal stromal tumor (GIST): Increased | Comprehensive (81 genes) | PMID: 27437068 | |||||||||
LZTR1 biallelic | Peripheral nerve schwannoma; spinal schwannoma; unilateral vestibular schwannoma: Increased | Comprehensive (81 genes) | PMID: 29517885, 28620004, 27921248 | |||||||||
LZTR1 monoallelic | Peripheral nerve schwannoma; spinal schwannoma; unilateral vestibular schwannoma: Increased | Comprehensive (81 genes) | PMID: 29517885, 28620004, 27921248 | |||||||||
MAX | Pheochromocytoma: Increased | Comprehensive (81 genes) | PMID: 28384794, 22452945, 20301715, 30536464 | |||||||||
MEN1 | Gastrinoma: 20-61% | Gastric carcinoid tumors: 7-35% | Parathyroid tumors: 98% | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Neuroendocrine and Adrenal Tumors V.2.2020 PMID: 20301710, 11739416, 22723327 | |||||||
MET | Papillary RCC: Up to 100%; increased risk of bilateral/multifocal disease | Comprehensive (81 genes) | PMID: 15371818, 15285561, 30372385, 26637977, 33085428, 31801140, 33724750, 10433944 | |||||||||
MITF (E318K) | Increased | Possibly increased | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 22012259, 26488006, 22080950, 26892650, 26650189 | ||||||||
MLH1 | 4-20% | 34-54% | 46-61% | 6.20% | 5-7% | 4.4- 13.8% | Biliary tract: 1.9-3.7% | Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647 | |||
MSH2 | 8-38% | 21-57% | 33-52% | 0.2-9% | 3.9- 23.8% | 2.2- 28% | Biliary tract: 0.02%-1.7% | Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647 | |||
MSH3 biallelic | Uncertain cancer risk
| Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 35675019 | |||||||||
MSH6 | Up to 13% | 16-49% | 10-44% | Up to 7.9% | Up to 5.5% | Biliary tract: 0.2-=1% | Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647 | ||||
MUTYH biallelic | 70-90% | Duodenal: 4% | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 | ||||||||
NBN | Increased risk Lymphoma and solid tumors PMD: 22373003 | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 20301355, 22373003 | |||||||||
NF1 | Female: 20-40% (until age 50) | Peripheral nerve sheath tumors: Increased | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.1.2023 PMID: 31010905, 2746095, 20301288 | ||||||||
NF2 | Vestibular schwannomas: Up to 100%, usually in both ears | Comprehensive (81 genes) | PMID: 20301380, 34464224, 15945431, 21278391, 16147576 | |||||||||
NTHL1 biallelic | Female: 6-56% by age 60 | 6-56% by age 60 | >20% | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 | |||||||
PALB2 | Female: 41-60% | 3-5% | 2-5% | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 | |||||||
PDGFRA | Gastrointestinal stromal tumor (GIST): PMID: Possibly increased | 27437068 | Comprehensive (81 genes) | PMID: 27437068 | |||||||||
PHOX2B | Neuroblastoma: Up to 50% | Comprehensive (81 genes) | PMID: 20301600, 28607627, 15338462 | |||||||||
PMS2 | 1.3-3% | 13-26% | 8.7-20% | Unknown | Up to 3.7% | Biliary tract: 0.2- =1% | Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647 | ||||
POLD1 | >20% cancer risk
| Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 | |||||||||
POLE | >20% cancer risk
| Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 | |||||||||
POT1 | Cutaneous melanoma: Increased | Chronic lymphocytic leukemia: Increased | Comprehensive (81 genes) | PMID: 33119245, 28853721, 27528712 | ||||||||
PRKAR1A | Myxoma: up to 40% | Comprehensive (81 genes) | PMID: 29372846, 28620449, 26130139, 30259502, 20301463, 15274075, 9351565, 32965923, 32809376, 25905341, 11095480 | |||||||||
PTCH1 | Basal cell carcinoma: up to 90% | Comprehensive (81 genes) | PMID: 20301330, 27386043, 30725766, 32698852, 31778444, 28620006, 27386043, 8042673, 25403219 | |||||||||
PTEN | Female: 40->60% | 28% | 11-20% | 6% | 34% | Thyroid: 21-38% | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.2.2024 | ||||
RAD51C | Female: 17-30% | 10-15% | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Breast, Ovarian, and Pancreatic V.2.2024 | ||||||||
RAD51D | Female: 17-30% | 10-20% | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 | ||||||||
RB1 | Retinoblastoma: up to 90% (often bilateral) | Comprehensive (81 genes) | PMID: 29056300, 20301625, 20237571, 14996857, 33801943 | |||||||||
RET | Subtype: | Comprehensive (81 genes) | PMID: 20301434, 31390501, 25810047 | |||||||||
RHBDF2 | Esophageal: Up to 95% (based on a small number of known affected families) | Comprehensive (81 genes) | PMID: 18559331, 26419362, 28723042 | |||||||||
RUNX1 | Myelodysplastic syndrome/acute myeloid leukemia: 20-50% | Comprehensive (81 genes) | PMID: 33661592, 18723428, 19357396 | |||||||||
SDHA | Increased | Gastrointestinal stromal tumor (GIST): Increased | Comprehensive (81 genes) | PMID: 20301715 | ||||||||
SDHAF2 | Gastrointestinal stromal tumor (GIST): Possibly increased | Comprehensive (81 genes) | PMID: 20301715, 31390501, 33081307, 21224366, 30536464 | |||||||||
SDHB | Increased | Gastrointestinal stromal tumor (GIST): Increased | Comprehensive (81 genes) | PMID: 20301715 | ||||||||
SDHC | Increased | Gastrointestinal stromal tumor (GIST): Increased | Comprehensive (81 genes) | PMID: 20301715 | ||||||||
SDHD | Increased | Gastrointestinal stromal tumor (GIST): Increased | Comprehensive (81 genes) | PMID: 20301715 | ||||||||
SMAD4 | Up to 50% | Up to 21% | Small bowel: Rare, currently undefined | Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 19553198 | |||||||
SMARCA4 | Small cell carcinoma | Rhabdoid tumors: Possibly increased (preliminary evidence) | Comprehensive (81 genes) | PMID: 25886974, 29215836 | ||||||||
SMARCB1 | [Rhabdoid tumor predisposition syndrome]: Rhabdoid tumor of the kidney, central nervous system, and/or other organs: Increased; Schwannoma: Possibly increased | Comprehensive (81 genes) | PMID: 29215836, 29517885, 33692948, 28620006 | |||||||||
SMARCE1 | Meningioma: Increased | Comprehensive (81 genes) | PMID: 26803492, 27891692, 27264197 | |||||||||
STK11 | Female: 32-54% | Sex cord tumors with annular tubules or SCTAT: At least 20% | 9% | 39% | 11-36% | 29% | Small bowel: 13% | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 | |||
SUFU | Basal cell carcinoma: Up to 90% | Comprehensive (81 genes) | PMID: 20301330, 28620006, 21834049, 33024317, 28965847 | |||||||||
TERC | Acute myeloid leukemia: Increased; squamous cell carcinoma of head and neck: Increased; anal and genital cancer: Increased | Comprehensive (81 genes) | PMID: 20301779, 33808277 | |||||||||
TERT biallelic | Acute myeloid leukemia; squamous cell carcinoma of head and neck; anal cancer; genital cancer: Increased | Comprehensive (81 genes) | PMID: 20301779, 19282459, 33808277 | |||||||||
TERT monoallelic | Acute myeloid leukemia; squamous cell carcinoma of head and neck; anal cancer; genital cancer: Increased | Comprehensive (81 genes) | PMID: 20301779, 19282459, 33808277 | |||||||||
TMEM127 | Possibly Increased | Gastrointestinal stromal tumor (GIST): Possibly increased | Comprehensive (81 genes) | PMID: 24334765, 20301715, 31390501, 21613359 | ||||||||
TP53 | Female: >60% | >20% | 5% | Sarcoma: Increased | GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.2.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 PMID: 20301488, 34709361, 31533767 | ||||||
TSC1 | Kidney cancer: 2-5% | Brain/CNS: Increased | Comprehensive (81 genes) | PMID: 20301399 | ||||||||
TSC2 | Kidney cancer: 2-5% | Brain/CNS: Increased | Comprehensive (81 genes) | PMID: 20301399 | ||||||||
VHL | Pancreatic Neuroendocrine tumor: ~5-17% | ~70% by age 60 | CNS Hemangioblastoma: 60-80% | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 20301636 | |||||||
WT1 | Wilms tumor: Increased | Gonadoblastoma: Increased | Comprehensive (81 genes) | PMID: 32352694, 34134020 | ||||||||