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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
ABRAXAS1 | Possibly increased | Custom Order | PMID: 22357538 | |||||||||
ACD | Possibly increased: squamous cell carcinoma of head and neck or anogenital region, acute myelogenous leukemia (AML) | Custom Order | PMID: 25205116 | |||||||||
AIP | Increased in mutation carriers who also have a diagnosis of acromegaly | Pituitary adenoma: Increased | Comprehensive (81 genes) | PMID: 22720333, 23371967 | ||||||||
AKT1 | Possibly increased | Possibly increased | Possibly increased | Possibly increased | Possibly increased | Possibly increased: thyroid cancer | Custom Order | PMID: 23246288 | ||||
ALK | Neuroblastic tumor: Increased | Comprehensive (81 genes) | PMID: 28674118, 20301782 | |||||||||
ANKRD26 | Possibly increased: | Custom Order | PMID: 29927566; 29222283 | |||||||||
AP2S1 | Possibly increased: | Custom Order | PMID: 26082470; 23222959; 24731014 | |||||||||
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% | Periampullary: <1-10% | 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% | 5-10% (limited evidence) | ~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.3.2024 PMID 36827971, 26662178, 37239385 | |||||
ATR | Possibly increased | Possibly increased: Oropharyngeal | Custom Order | PMID: 22341969; 17431037; 27433846; 29915322 | ||||||||
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.3.2024 | |||||||||
BLM (biallelic) | Increased | Increased | Increased | Increased: Wilms tumor | Leukemia, lymphoma, small intestine, esophagus, Oropharyngeal, cervical, skin (non-melanoma), lung | Custom Order | PMID: 20301572; 30055079; 34650095 | |||||
BLM (monoallelic) | Possibly increased | Custom Order | PMID: 20301572; 12242432; 26358404; NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V2.2023 | |||||||||
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.3.2024 PMID 36827971, 37239385 | |||||
BRCA2 | Female: >60% | 13-29% | Possibly slightly increased (limited data) | 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.3.2024 PMID 36827971, 37239385 | ||||
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 | ||||||||
BUB1B (biallelic) | Possibly increased: Wilms tumor (nephroblastoma) | Possibly increased: rhabdomyosarcoma, leukemia | Custom Order | PMID: 15475955 | ||||||||
CASR | Possibly increased: Increased, if there is chronic pancreatitis | Possibly increased: Hyperparathyroidism | Custom Order | PMID: 24624459; 30241646; 32386559; 7916660; 16497624; 18938753 | ||||||||
CDC73 | Non-cancerous/cancerous uterine tumors combined: > 50% | Renal tumors: ~13-15% | Hyperparathyroidism: up to 87% | Comprehensive (81 genes) | PMID: 31929790, 26450137 | |||||||
CDH1 | Female: 41-60% | Female: 83% | 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.3.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Gastric Cancer V.1.2024 | ||||||||
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 | |||||||||
CEP57 (biallelic) | Custom Order | PMID: 21552266 | ||||||||||
CFTR (biallelic) | Possibly increased: Increased, if there is chronic pancreatitis | Custom Order | PMID: 21844754; 24624459; 27555793; 32172939; 9725921; 21520337 | |||||||||
CFTR (monoallelic) | Possibly increased: Increased, if there is chronic pancreatitis | Custom Order | PMID: 21844754; 24624459; 27555793; 32172939; 9725921; 21520337 | |||||||||
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.3.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.2.2023 | |||||||
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.3.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.2.2023 PMID: 22799331, 37490054 | |||||||
CPA1 | Possibly increased: Increased, if there is chronic pancreatitis | Custom Order | PMID: 24624459; 23955596; 28258133 | |||||||||
CTC1 (biallelic) | Possibly increased: Myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), squamous cell carcinoma of the head and neck or anogenital region | Custom Order | PMID: 20301779; 19282459 | |||||||||
CTNNA1 | Possibly increased | Possibly increased | Custom Order | PMID: 37686589; 37669414; 37165697; 36741258 | ||||||||
CTR9 | Possibly increased: Wilms tumor | Custom Order | PMID: 25099282 | |||||||||
CTRC | Possibly increased: Increased, if there is chronic pancreatitis | Custom Order | PMID: 24624459; 30241646 | |||||||||
CYLD | Cylindroma, spiradenoma, or trichoepithelioma: Significantly increased | Comprehensive (81 genes) | PMID: 34744449, 32298062 | |||||||||
DDB2 (biallelic) | Increased | Basal cell carcinoma, squamous cell carcinoma, eye cancer | Custom Order | PMID 20301571 | ||||||||
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 | |||||||
DIS3L2 (biallelic) | Increased: Wilms tumor | Custom Order | PMID: 18780370; 34134020 | |||||||||
DIS3L2 (monoallelic) | Custom Order | PMID: 18780370; 34134020 | ||||||||||
DKC1 | Increased in males: acute myeloid leukemia, squamous cell carcinoma (SCC) of head and neck or anogenital region | Custom Order | PMID: 19282459; 20301779; | |||||||||
EGFR (T790M) | Lung: Increased, up to 31% | Comprehensive (81 genes) | PMID: 24736066, 34164592 | |||||||||
EGLN1 | Possibly increased: paraganglioma | Custom Order | PMID: 25263965; 19092153; 30877234 | |||||||||
ENG | Possibly increased: Increased risk for polyposis, which may increase the risk for colorectal cancer | Custom Order | PMID: 16287957; 23399955 | |||||||||
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 | |||
ERBB2 | Possibly increased | Possibly increased: Lung | Custom Order | PMID: 26094658; 29752822; 31452768; 31477031; 19055823 | ||||||||
ERCC1 (biallelic) | Possibly increased | Possibly increased: Basal cell carcinoma, squamous cell carcinoma, melanoma | Custom Order | PMID: 20301571 | ||||||||
ERCC2 (biallelic) | Increased | Basal cell carcinoma, squamous cell carcinoma, eye cancer | Custom Order | PMID 20301571 | ||||||||
ERCC3 (biallelic) | Increased | Basal cell carcinoma, squamous cell carcinoma, eye cancer | Custom Order | PMID 20301571 | ||||||||
ERCC4 (biallelic) | Increased | Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), basal cell carcinoma, squamous cell carcinoma, eye cancer | Custom Order | PMID 20301571 | ||||||||
ERCC5 (biallelic) | Increased | Basal cell carcinoma, squamous cell carcinoma, eye cancer | Custom Order | PMID 20301571 | ||||||||
EXT1 | Osteochondromas: ~96% | Comprehensive (81 genes) | PMID: 20301413, 8027127, 22258776, 25582066 | |||||||||
EXT2 | Osteochondromas: ~96% | Comprehensive (81 genes) | PMID: 20301413, 8027127, 22258776, 25582066 | |||||||||
EZH2 | Possibly increased: Leukemia, lymphoma, neuroblastoma | Custom Order | PMID: 23865096; 31724824 | |||||||||
FAN1 | Possibly increased | Custom Order | PMID: 32449991; 26052075 | |||||||||
FANCA (biallelic) | Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas, | Custom Order | PMID 20301575 | |||||||||
FANCB (hemizygous) | Acute myeloid leukemia, squamous cell carcinomas | Custom Order | PMID 20301575 | |||||||||
FANCC (biallelic) | Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas, | Custom Order | PMID 20301575 | |||||||||
FANCD2 (biallelic) | Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas, | Custom Order | PMID 20301575 | |||||||||
FANCE (biallelic) | Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas, | Custom Order | PMID 20301575 | |||||||||
FANCF (biallelic) | Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas, | Custom Order | PMID 20301575 | |||||||||
FANCG (biallelic) | Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas, | Custom Order | PMID 20301575 | |||||||||
FANCI (biallelic) | Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas, | Custom Order | PMID 20301575 | |||||||||
FANCL (biallelic) | Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas, | Custom Order | PMID 20301575 | |||||||||
FANCM (biallelic) | Custom Order | PMID 30075111; 29895858; | ||||||||||
FBXW7 | Possibly increased: Wilms tumor | Custom Order | PMID: 30885698 | |||||||||
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 | |||||||
GALNT12 | 5-10% | Multi-Cancer (40 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V2.2023 | |||||||||
GATA1 | Possibly increased: Osteogenic sarcoma, myelodysplastic syndrome (MDS), acute myelogenous leukemia (AML) | Custom Order | PMID: 20301538; 35328001; 24453067; 20301769 | |||||||||
GATA2 | Myelodysplastic syndrome/acute myeloid leukemia: Increased | PMID: 22691122 | Comprehensive (81 genes) | PMID: 22691122, 25397911 | |||||||||
GEN1 | Possibly increased | Custom Order | PMID: 27433846 | |||||||||
GNA11 | Possibly increased: Hyperparathyroidism, hypocalciuria, hypercalcemia, hypocalcemia | Custom Order | PMID: 23802516; 26729423; 31672324 35679444 | |||||||||
GPC3 (hemizygous) | Increased: Wilms tumor | Medulloblastoma, adrenal neuroblastoma, hepatoblastoma, | Custom Order | PMID: 20301398 | ||||||||
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 | |||||||||
HNF1A | Possibly increased | Hepatocellular adenoma | Custom Order | PMID: 31166087, 12355088, 23707370, 31483937, 15649945 | ||||||||
HNF1B | Possibly increased | Custom Order | PMID: 29792621, 15649945, 25536396, 21775974 | |||||||||
HOXB13 (G84E) | 33-60% | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 26517352, 22841674, 25595936, 23457453, 29236593 | |||||||||
HRAS | Rhabdomyosarcoma, neuroblastoma, bladder cancer (typically transitional cell carcinoma) | Custom Order | PMID: 20301680 | |||||||||
KDM3B | Possibly increased: Wilms tumor | Custom Order | PMID: 20301471, 30885698 | |||||||||
KIF1B | Possibly increased: Neuroblastoma, pheochromocytoma | Custom Order | PMID: 18334619; 24694336; 27986441; 32565791 | |||||||||
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 | |||||||||
MBD4 one variant | Uveal (eye) melanoma: Increased | Custom Order | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.2.2023 PMID: 27911450; 35460607 | |||||||||
MBD4 two variants | Uncertain cancer risk | Uveal (eye) melanoma: Increased | Acute myeloid leukemia (AML): Increased | Custom Order | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.2.2023 PMID: 27911450; 35460607 | |||||||
MC1R | Possibly increased | Custom Order | PMID: 8894704; 24917043 | |||||||||
MDM2 | Custom Order | PMID: 17003841; 15550242 | ||||||||||
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 | |||
MLH3 (biallelic) | Possibly increased: colon polyposis, which may increase the risk for colorectal cancer | Custom Order | PMID: 30573798; 31043712 | |||||||||
MRE11 | Custom Order | PMID: 28418444; NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 | ||||||||||
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 biallelic | 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 | |||||||||
NHP2 (biallelic) | Possibly increased: Acute myelogenous leukemia (AML), Squamous cell carcinoma of the head and neck or anogenital region | Custom Order | PMID: 18523010; 31985013 | |||||||||
NOP10 (biallelic) | Possibly increased: Acute myelogenous leukemia (AML), Squamous cell carcinoma of the head and neck or anogenital region | Custom Order | PMID: 17507419 | |||||||||
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 | |||||||
NYNRIN (biallelic) | Possibly increased: Wilms tumor | Custom Order | PMID: 30885698 | |||||||||
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.3.2024. PMID: 36827971, 25099575 | |||||||
PALLD | Possibly increased | Custom Order | PMID: 33764904; 30113427; 17194196 | |||||||||
PARN (biallelic) | Possibly increased: Myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), squamous cell carcinoma of the head and neck or anogenital region | Custom Order | PMID: 20301779; 19282459; 25893599; 26810774 | |||||||||
PARN (monoallelic) | Possibly increased: Lung cancer if there is pulmonary fibrosis | Custom Order | PMID: 20301779; 30285867 | |||||||||
PAX5 | Possibly increased: Acute lymphoblastic leukemia | Custom Order | PMID: 33036026; 24013638 | |||||||||
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 | |||||||||
PIK3CA | Possibly increased | Possibly increased | Possibly increased: thyroid cancer | Custom Order | PMID: 23246288 | |||||||
PMS1 | Possibly increased | Custom Order | PMID: 25151137; 29752822; 32029870 | |||||||||
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 | |||||||||
POLH (biallelic) | Increased | Basal cell carcinoma, squamous cell carcinoma, eye cancer | Custom Order | PMID 20301571 | ||||||||
POT1 | Cutaneous melanoma: Increased | Chronic lymphocytic leukemia: Increased | Comprehensive (81 genes) | PMID: 33119245, 28853721, 27528712 | ||||||||
PRF1 (biallelic) | Custom Order | PMID: 20301617 | ||||||||||
PRKAR1A | Myxoma: up to 40% | Comprehensive (81 genes) | PMID: 29372846, 28620449, 26130139, 30259502, 20301463, 15274075, 9351565, 32965923, 32809376, 25905341, 11095480 | |||||||||
PRSS1 | Possibly increased: Increased, if there is chronic pancreatitis | Custom Order | PMID: 24624459; PMID: 30241646; NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 | |||||||||
PTCH1 | Basal cell carcinoma: up to 90% | Comprehensive (81 genes) | PMID: 20301330, 27386043, 30725766, 32698852, 31778444, 28620006, 27386043, 8042673, 25403219 | |||||||||
PTCH2 | Possibly increased: Basal cell carcinoma, fibromas of the ovaries and heart, meningioma, medulloblastoma | Custom Order | PMID: 18285427; 31945512 | |||||||||
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: Breast, Ovarian and Pancreatic V.3.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.2.2023 | ||||
RAD50 | Custom Order | PMID: 28418444; 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 | |||||||||
RECQL4 (biallelic) | Increased | Basal cell carcinoma, osteosarcoma, lymphoma, squamous cell carcinoma | Custom Order | PMID: 20301415; 20301383 | ||||||||
REST | Increased: Wilms tumor | Custom Order | PMID: 26551668, 32412586, 30885698 | |||||||||
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 | |||||||||
RINT1 | Custom Order | PMID: 27544226; 33471991 | ||||||||||
RNF43 | Possibly increased: Increased risk for serrated polyposis, which may increase the risk for colorectal cancer | Multi-Cancer (40 genes) | PMID: 24512911; 27081527; 27329244; 29330307; NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V2.2023 | |||||||||
RPL11 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPL15 | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPL18 | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPL19 | Possibly increased: myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 22431104; 30503522 | |||||||||
RPL26 | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPL27 | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPL35 | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPL35A | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPL5 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS10 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS15A | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS17 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS19 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS20 | Possibly increased | Multi-Cancer (40 genes) | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V2.2023 | |||||||||
RPS24 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS26 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS27 | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS28 | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS29 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RPS7 | Increased | Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
RTEL1 | Myelodysplastic syndrome (MDS) and myeloid leukemia, solid tumors most often SCC (head and neck, anal & genital) | Custom Order | PMID 20301779 | |||||||||
RUNX1 | Myelodysplastic syndrome/acute myeloid leukemia: 20-50% | Comprehensive (81 genes) | PMID: 33661592, 18723428, 19357396 | |||||||||
SAMD9L | Myelodysplastic syndrome (MDS) and myeloid leukemia | Custom Order | PMID 28570036 | |||||||||
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 | ||||||||
SLC45A2 (biallelic) | Possibly increased | Other skin cancers (BCC and SCC) | Custom Order | PMID 20301683 | ||||||||
SLC45A2 (monoallelic) | Possibly increased | Custom Order | PMID 28192564; 20301683 | |||||||||
SLX4 (biallelic) | Myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), squamous cell carcinomas, other solid tumors | Custom Order | PMID 20301575 | |||||||||
SLX4 (monoallelic) | Possible | Custom Order | PMID 30306255; 28202063; 22911665; 23211700; 23840564; 24733792 | |||||||||
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 | |||||||||
SPINK1 | Possibly increased: Increased, if there is chronic pancreatitis | Custom Order | PMID: 24624459; 30241646; 10835640; 14722925; 27578509; NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 | |||||||||
SPRED1 | Possibly increased: leukemia | Custom Order | PMID 20945555 | |||||||||
SRP72 | Possibly increased: myelodysplastic syndrome (MDS) | Custom Order | PMID: 22541560 | |||||||||
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.3.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.2.2023 | |||
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 | |||||||||
TINF2 | Acute myeloid leukemia (AML), solid tumors most often SCC (head and neck, anal & genital) | Custom Order | PMID 20301779 | |||||||||
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.3.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.2.2023 PMID: 34709361, 36827971, 31069009, 29977421 | ||||||
TRIM28 | Increased: Wilms tumor | Custom Order | PMID: 20301471; 30885698; 29912901; 30694527; 33565090; 32412586 | |||||||||
TRIP13 (biallelic) | Possibly increased: Wilms tumor | Custom Order | PMID 28553959 | |||||||||
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 | ||||||||
TSR2 (hemizygous) | Possibly increased | Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma | Custom Order | PMID 20301769; 29051281 | ||||||||
TYR (biallelic) | Possibly increased | Skin cancer (BCC & SCC) | Custom Order | PMID 37053367 | ||||||||
TYR (monoallelic) | Possibly increased | Possibly increased: other skin cancer (BCC & SCC) | Custom Order | PMID 29036293; 31233279 | ||||||||
USB1 (biallelic) | Myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), skin cancer (squamous cell carcinoma) | Custom Order | PMID 29072891 | |||||||||
VHL | Pancreatic Neuroendocrine tumor: ~5-17% | ~70% by age 60 | CNS Hemangioblastoma: 60-80% | Multi-Cancer (40 genes) Comprehensive (81 genes) | PMID: 20301636 | |||||||
WRAP53 (biallelic) | Possibly increased: Squamous cell carcinoma of the head and neck or anogenital region, myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) | Custom Order | PMID: 20301779; 19282459 | |||||||||
WRN (biallelic) | Increased | Thyroid, soft-tissue sarcoma, osteosarcoma | Custom Order | PMID: 20301687; 23573208; 24356923; 26993153 | ||||||||
WT1 | Wilms tumor: Increased | Gonadoblastoma: Increased | Comprehensive (81 genes) | PMID: 32352694, 34134020 | ||||||||
XPA (biallelic) | Increased | Basal cell carcinoma, squamous cell carcinoma, eye cancer | Custom Order | PMID 20301571 | ||||||||
XPC (biallelic) | Increased | Basal cell carcinoma, squamous cell carcinoma, eye cancer | Custom Order | PMID 20301571 | ||||||||
XRCC2 | Possibly increased | Custom Order | NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 |