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Empower gene table with cancer risk recommendations

Select the Empower gene panel of interest from the “Filter by Panel” dropdown menu to view the included genes (listed in alphabetical order). Search for a particular gene of interest in the “Search by Gene” box. By default, search results will include only genes available in panels; select “All Genes” in the “Search Scope” to expand your search to include genes available through custom order. Use the “Reset” button to start a new search.

The information shown is based on the publication data available at the time of the last table update, and a PubMed identification (PMID) number is listed for each risk association in the Resources column.

For desktop viewing: hover your mouse over a colored dot to view how a gene confers risk for each of 15+ hereditary cancer types within a pop-up box.

Empower Multi-Cancer 40 Gene Panel
Empower 81 Genes Across Five Screening Panels
Empower 81 Genes Across Common Hereditary Cancers
Empower 81 Genes Across Common Hereditary Cancers: Additional Organ System Associations
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Gene Breast Ovarian Endometrial Colorectal Melanoma Pancreatic Gastric Prostate Renal Bone and Soft Tissue Brain/CNS Urothelial/Bladder Thyroid/Endocrine Hematologic Other Gastrointestinal Other Panels Resources
ABRAXAS1

Possibly increased

               

Custom Order

PMID: 22357538

ACD             

Acute myelogenous leukemia (AML): Possibly increased

 

Squamous cell carcinoma of head and neck or anogenital region: Possibly increased

Custom Order

PMID: 25205116

AIP   

Increased in mutation carriers who also have a diagnosis of acromegaly

        

Pituitary adenoma: Increased

   

Comprehensive (81 genes)

PMID: 15274075; 29434339; 23371967; 31996917; 31792668

AKT1

Possibly increased

 

Possibly increased

Possibly increased

Possibly increased

   

Possibly increased

   

Thyroid cancer: Possibly increased

   

Custom Order

PMID: 23246288

ALK          

Neuroblastic tumor: Increased

     

Comprehensive (81 genes)

PMID: 28674118; 29250786

ANKRD26             

Myeloid malignancies including myelodysplastic syndrome (MDS), acute myelogenous leukemia (AML), and chronic myelogenous leukemia (CML): Possibly increased

  

Custom Order

PMID: 29927566; 29222283

AP2S1            

Hyperparathyroidism: Possibly increased

   

Custom Order

PMID: 26082470; 23222959; 24731014

APC   

Up to 100% for FAP
(if polyposis is untreated)
Up to 70% for AFAP
(if polyposis is untreated)
Rectal cancer risk after removal of colon for FAP: 10-30%

  

0.1-7.1%

  

Intra-abdominal desmoid tumors: 10-24% (specific variants have higher risk)

1%

 

Thyroid: 1.2-12%

 

Small bowel: <1%
Duodenal: <1-10%
Hepatoblastoma: 0.4-2.5%

 

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.3.2024
PMID: 24213224

APC (GAPPS)      

12-25%

         

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.3.2024

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, Endometrial, and Gastric V.4.2024
PMID: 36497357

ATM

Female: 21-24%*

*Carriers of the c.7271T>G variant have a higher risk for breast cancer, estimated to be 60% by age 80

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, Pancreatic, and Prostate V.2.2025
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.3.2024
PMID: 36827971; 37239385

ATR       

Possibly increased

       

Oropharyngeal: Possibly increased

Custom Order

PMID: 22341969; 17431037; 27433846; 29915322

AXIN2   

Colorectal cancer and colorectal adenomatous
polyps: Increased*
*Risk is higher than for the average person, but the exact level of increased risk is not known

            

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.4.2024
PMID: 21416598

BAP1    

Cutaneous melanoma (skin): ~15%; uveal melanoma (eye): ~30%

   

9-10%

      

Malignant mesothelioma: 22%
Skin cancer (basal cell carcinoma): Increased

Multi-Cancer (40 genes)
Comprehensive (81 genes)

PMID: 26096145; 28793149

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 (monoallelic)   

Possibly increased

            

Custom Order

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V2.2023
PMID: 20301572; 12242432; 26358404

BLM (biallelic)

Increased

  

Increased

  

Increased

 

Increased: Wilms tumor

    

Leukemia and lymphoma: Increased

Small intestine and esophageal: Increased

Oropharyngeal: Increased
Cervical: Increased
Skin cancer (non-melanoma): Increased
Lung: Increased

Custom Order

PMID: 20301572; 30055079; 34650095

BMPR1A   

Colorectal cancer: 40-50%
Colorectal polyposis: Increased

  

Rare

         

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.1.2025

BRCA1

Female: 60-72%*
Male: 0.2-1.2%

*Carriers of the c.5096G>A variant have a lower risk for breast cancer, estimated to be 24% by age 70

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, Pancreatic, and Prostate V.2.2025
PMID: 36827971; 37239385

BRCA2

Female: 55-69%
Male: 1.8-7.1%

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, Pancreatic, and Prostate V.2.2025
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, Pancreatic, and Prostate V.3.2025

BUB1B (biallelic)        

Wilms tumor (nephroblastoma): Possibly increased

Rhabdomyosarcoma: Possibly increased

   

Leukemia: Possibly increased

  

Custom Order

PMID: 15475955

CASR     

Possibly increased: Increased, if there is chronic pancreatitis

      

Hyperparathyroidism: Possibly increased

   

Custom Order

PMID: 24624459; 30241646; 32386559; 7916660; 16497624; 18938753

CDC73  

Non-cancerous/cancerous uterine tumors combined: > 50%

     

Renal tumors: ~13-15%

Jaw tumors: ~30%

  

Hyperparathyroidism: Up to 95%
Parathyroid cancer: ~20%

   

Comprehensive (81 genes)

PMID: 23418315; 25751112; 31929790; 26450137; 20301744

CDH1

Female: 36.5-55%

     

Female: 13.6-33%
Male: 20.5-42%

         

GYN guidelines-based (19 genes)
Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Colorectal, Endometrial, and Gastric V.3.2024
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate V.2.2025
PMID: 36552944

CDK4    

Increased

           

Multi-Cancer (40 genes)
Comprehensive (81 genes)

PMID: 26892650

CDKN1B            

Primary hyperparathyroidism typically secondary to adenoma: ~80%
Pituitary adenoma: 37-40%
Neuroendocrine tumor: Up to 37%

   

Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Neuroendocrine and Adrenal Tumors V.3.2021
PMID: 28824003; 30990521; 26985167; 15274075; 34209340; 29434339

CDKN1C        

Wilms tumor: 1.4%

Neuroblastoma: 4.2%

   

Acute lymphocytic leukemia (ALL): 1.4%

  

Comprehensive (81 genes)

PMID:16010495; 29377879; 24624461; 19550435

CDKN2A (p16INK4a)    

28-76%

>15%

          

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate V.3.2025
PMID: 35372037; 26892650; 21249757; 36269225

CEBPA             

Acute myeloid leukemia (AML): Significantly increased

  

Comprehensive (81 genes)

PMID: 26162409; 20963938; 22691122

CEP57 (biallelic)               

Mosaic variegated aneuploidy syndrome 2 (MVA2)

Custom Order

PMID: 21552266

CFTR (monoallelic)     

Possibly increased: Increased, if there is chronic pancreatitis

          

Custom Order

PMID: 21844754; 24624459; 27555793; 32172939; 9725921; 21520337

CFTR (biallelic)     

Possibly increased: Increased, if there is chronic pancreatitis

          

Custom Order

PMID: 21844754; 24624459; 27555793; 32172939; 9725921; 21520337

CHEK2

Female: 23-27%

      

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, Pancreatic, and Prostate V.2.2025
PMID: 37490054; 36827971

CHEK2 (I157T) and (S428F)

Female: <20%

      

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, Pancreatic, and Prostate V.2.2025
PMID: 22799331; 37490054

CPA1     

Possibly increased: Increased, if there is chronic pancreatitis

          

Custom Order

PMID: 24624459; 23955596; 28258133

CTC1 (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Possibly increased

 

Squamous cell carcinoma of the head and neck or anogenital region: Possibly increased

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
Salivary gland cancer: Increased
Skin cancer (non-melanoma): Increased

Comprehensive (81 genes)

PMID: 34744449; 32298062; 25489539; 30449524; 32185393; 29489215; 28846324; 25928283

DDB2 (biallelic)    

Increased

          

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased
Eye cancer: Increased

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 cancer: Increased
Benign thyroid tumors: Increased

  

Pleuropulmonary blastoma: Increased

Comprehensive (81 genes)

PMID: 24761742; 29343557; 18605764; 22443979; 15863154

DIS3L2 (monoallelic)        

Wilms tumor: Possibly increased

       

Custom Order

PMID: 18780370; 34134020; 22306653

DIS3L2 (biallelic)        

Wilms tumor: Increased

       

Custom Order

PMID: 18780370; 34134020; 22306653

DKC1             

Acute myeloid leukemia (AML): Increased in males

 

Squamous cell carcinoma of head and neck or anogenital region: Increased in males

Custom Order

PMID: 19282459; 20301779

EGFR (T790M)               

Lung: Increased, up to 31%

Comprehensive (81 genes)

PMID: 24736066; 34164592; 34670806; 29899996; 26436111

EGLN1            

Paraganglioma: Possibly increased

   

Custom Order

PMID: 25263965; 19092153; 30877234

ENG   

Possibly increased: polyposis, which may increase the risk for colorectal cancer

            

Custom Order

PMID: 20301525

EPCAM 

8-38%*

*Gynecologic cancer risk varies based on the specific genetic change in the EPCAM gene

21-57%*

*Gynecologic cancer risk varies based on the specific genetic change in the EPCAM gene

33-52%

  

0.2-9%

3.9-23.8%

Renal pelvis and/or ureter: 2.2-28%

Sarcoma: 4.24%

2.5-7.7%

Bladder: 4.4-12.8%

  

Biliary tract: 0.02-1.7%
Small bowel: 1.1-10%

Skin (sebaceous
adenocarcinoma, sebaceous
adenoma, keratoacanthoma): Increased

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, Endometrial, and Gastric V.1.2025
PMID: 20825397; 32534647; 37238164

ERBB2

Possibly increased

              

Lung: Possibly increased

Custom Order

PMID: 26094658; 29752822; 31452768; 31477031; 19055823

ERCC1 (biallelic)    

Possibly increased

          

Basal cell carcinoma: Possibly increased
Squamous cell carcinoma: Possibly increased

Custom Order

PMID: 20301571

ERCC2 (biallelic)    

Increased

          

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased
Eye cancer: Increased

Custom Order

PMID: 20301571

ERCC3 (biallelic)    

Increased

          

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased
Eye cancer: Increased

Custom Order

PMID: 20301571

ERCC4 (biallelic)    

Increased

        

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased
Eye cancer: Increased

Custom Order

PMID: 20301571

ERCC5 (biallelic)    

Increased

          

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased
Eye cancer: Increased

Custom Order

PMID: 20301571

EXT1         

Osteochondromas: ~96%
Chondrosarcoma: 2-5%

      

Comprehensive (81 genes)

PMID: 20301413; 8027127; 22258776; 25582066; 28852349; 33622860; 30591865; 31273432; 11432960; 15446535; 19651953; 24432077; 32010535; 30806661; 16879194; 24413927

EXT2         

Osteochondromas: ~96%
Chondrosarcoma: 2-5%

      

Comprehensive (81 genes)

PMID: 20301413; 8027127; 22258776; 25582066; 28852349; 33622860; 25582066; 30591865; 31273432; 15446535; 19651953; 24432077; 32010535; 30806661; 16879194; 24413927

EZH2          

Neuroblastoma: Possibly increased

  

Leukemia and lymphoma: Possibly increased

  

Custom Order

PMID: 23865096; 31724824

FAN1   

Possibly increased

            

Custom Order

PMID: 32449991; 26052075; 22772369

FANCA (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCB (hemizygous)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCC (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCD2 (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCE (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCF (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCG (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCI (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCL (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

FANCM (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Possibly increased

 

Squamous cell carcinomas (SCC) of the head and neck: possibly increased

Custom Order

PMID 30075111; 29895858

FBXW7        

Possibly increased: Wilms tumor

       

Custom Order

PMID: 30885698

FH        

10-19% (most commonly papillary RCC)

   

Paraganglioma: Possibly increased in association with particular variants
Pheochromocytoma: Possibly 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,
and papillary renal cancer)

   

Thyroid: Possibly increased

   

Comprehensive (81 genes)

PMID: 20301695; 11927500; 22146830; 30586397; 30845233; 18234728; 26334087; 20522427; 20392993; 20413710; 19959076

GALNT12   

Possibly increased

            

Multi-Cancer (40 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022

GATA1         

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

  

Custom Order

PMID: 20301538; 35328001; 24453067; 20301769

GATA2             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

  

Comprehensive (81 genes)

PMID: 22691122; 25397911; 30047422; 24227816

GEN1       

Possibly increased

        

Custom Order

PMID: 27433846

GNA11            

Hyperparathyroidism, hypocalciuria and hypercalcemia: Possibly increased

   

Custom Order

PMID: 23802516; 26729423; 31672324
35679444; 32386559; 28833550

GPC3 (hemizygous)        

Increased: Wilms tumor

 

Medulloblastoma and adrenal neuroblastoma: Increased

   

Hepatoblastoma and hepatocellular carcinoma: Increased

Gonadoblastoma: Increased

Custom Order

PMID: 20301398

GREM1   

11-20%
Increased risk for mixed polyposis
(many polyps of different types)

            

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: Increased
Hepatocellular carcinoma: Possibly increased

 

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: Increased

Neuroblastoma: Increased

Bladder cancer (typically transitional cell carcinoma): Increased

    

Custom Order

PMID: 20301680

KDM3B        

Wilms tumor: Possibly increased

       

Custom Order

PMID: 20301471; 30885698; 29351919; 30929739

KIF1B          

Neuroblastoma: Possibly increased

 

Pheochromocytoma: Possibly increased

   

Custom Order

PMID: 18334619; 24694336; 27986441; 32565791

KIT              

Gastrointestinal stromal tumor (GIST): Increased

 

Comprehensive (81 genes)

PMID: 27437068

LZTR1 (monoallelic)          

Peripheral nerve schwannoma, spinal schwannoma, and unilateral vestibular schwannoma: Increased

     

Comprehensive (81 genes)

PMID: 29517885; 28620005; 27921248; 23312968

LZTR1 (biallelic)          

Peripheral nerve schwannoma, spinal schwannoma, and unilateral vestibular schwannoma: Increased

     

Comprehensive (81 genes)

PMID: 29517885; 28620005; 27921248; 23312968

MAX            

Pheochromocytoma: Increased
Paraganglioma: Possibly increased

   

Comprehensive (81 genes)

PMID: 28384794; 22452945; 20301715; 30536464

MBD4 (monoallelic)    

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 (biallelic)   

Uncertain cancer risk
Increased risk for polyposis (many polyps)

Uveal (eye) melanoma: Increased

     

Schwannomas: Possibly 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               

Possibly increased risk for accelerated tumor development when in combination with other germline predisposition variants

Custom Order

PMID: 17003841; 15550242

MEN1     

Gastrinoma: 20-61%
Functioning pancreatic neuroendocrine tumor: 20-80%

Gastric carcinoid tumors: 7-35%

     

Parathyroid hyperplasia: ≥95%
Pituitary tumors: 30-40%
Adrenal adenomas or carcinomas: 27-36%
Lung/thymus neuroendocrine tumors: <8%

   

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; 18636147

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%

Renal pelvis and/or ureter: Up to 5%

 

0.7-1.7%

Bladder: 2-7%

  

Biliary tract: 1.9-3.7%
Small bowel: 0.4-11%

Skin (sebaceous
adenocarcinoma, sebaceous
adenoma, keratoacanthoma): Increased

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, Endometrial, and Gastric V.1.2025
PMID: 20825397; 32534647; 37238164; 37509324

MLH3 (biallelic)   

Possibly increased risk for polyposis (many polyps), which may increase the risk for colorectal cancer

            

Custom Order

PMID: 30573798; 31043712

MRE11

Possibly increased

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
PMID: 28418444; 26720728; 33426167

MSH2 

8-38%

21-57%

33-52%

  

0.2-9%

3.9-23.8%

Renal pelvis and/or ureter: 2.2-28%

Sarcoma: 4.24%

2.5-7.7%

Bladder: 4.4-12.8%

  

Biliary tract: 0.02%-1.7%
Small bowel: 1.1-10%

Skin (sebaceous
adenocarcinoma, sebaceous
adenoma, keratoacanthoma): Increased*

*Possibly higher for people with
the MSH2 c.942+3A>T variant

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, Endometrial, and Gastric V.1.2025
PMID: 20825397; 32534647; 37238164; 37509324

MSH3 (biallelic)   

Colorectal cancer: Possibly increased (not
enough data to define risk)
Colorectal adenomatous
polyps: Increased*
*Risk is higher than for the average person, but the exact level of increased risk is not known

            

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.4.2024

MSH6 

≤1-13%

16-49%

10-44%

  

≤1-7.9%

 

Renal pelvis and/or ureter: 0.7-5.5%

 

0.8-1.8%

Urothelial: 0.7-5.5%
Bladder: 1-8.2%

  

Biliary tract: 0.2-≤1%
Small bowel: ≤1-4%

Skin (sebaceous
adenocarcinoma, sebaceous
adenoma, keratoacanthoma): Increased

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, Endometrial, and Gastric V.1.2025
PMID: 20825397; 32534647; 37238164; 37509324

MUTYH (biallelic)

Possibly increased (limited evidence)

Possibly increased (limited evidence)

Possibly increased (limited evidence)

Colorectal polyposis: Up to 100% by age 50
Colorectal cancer: 70-90% if polyposis left untreated

  

Gastric: Possibly increased (limited evidence)
Gastric fundic gland polyps: 11%

    

Bladder: Possibly increased (limited evidence)

Thyroid: Possibly increased (limited evidence)

 

Duodenal cancer: 4%
Duodenal polyps: 17-34%

 

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial and Gastric V.4.2024
PMID: 37810899; 36518221; 36260172; 20567540

NBN (biallelic) 

Germ cell tumor: Increased

       

Rhabdomyosarcoma: Increased

Medulloblastoma and glioma: Increased

  

Lymphoma: 40% by age 20

 

Solid tumors: Increased

GYN guidelines-based (19 genes)
Multi-Cancer (40 genes)
Comprehensive (81 genes)

PMID: 20301355; 22373003

NF1

Female: 20-40% (until age 50)

         

Malignant peripheral nerve sheath tumors: 8.5-15.8%

 

Pheochromocytoma: 0.1-5.7%

Juvenile myelomonocytic leukemia: Increased

Gastrointestinal stromal tumors (GIST): 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.3.2025
PMID: 30006586; 35053663; 35919261; 35954353; 33796386

NF2          

Vestibular schwannomas: Up to 100% (often bilaterally)
Spinal tumors: 66%
Meningiomas: Up to 80%
Astrocytoma: Possibly increased

     

Comprehensive (81 genes)

PMID: 20301380; 34464224; 15945431; 21278391; 16147576

NHP2 (biallelic)             

Acute myelogenous leukemia (AML): Possibly increased

 

Squamous cell carcinoma of the head and neck or anogenital region: Possibly increased

Custom Order

PMID: 18523010; 31985013

NOP10 (biallelic)             

Acute myelogenous leukemia (AML): Possibly increased

 

Squamous cell carcinoma of the head and neck or anogenital region: Possibly increased

Custom Order

PMID: 17507419

NTHL1 (biallelic)

Female: 6-56% by age 60

 

6-56% by age 60

Colorectal cancer: >20%
Colorectal polyposis (many polyps): Up to 100%

      

Brain: 6-56% by age 60

Urothelial: 6-56% by age 60

 

Blood: 6-56% by age 60

 

Basal cell carcinoma: 6-56% by age 60
Head and neck cancer: 6-56% by age 60
Cervical cancer: 6-56% by age 60

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.1.2025

NYNRIN (biallelic)        

Wilms tumor: Possibly increased

       

Custom Order

PMID: 30885698

PALB2

Female: 32-53%
Male: 0.9%

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, Pancreatic, and Prostate V.2.2025
PMID: 36827971; 25099575

PALLD     

Possibly increased

          

Custom Order

PMID: 33764904; 30113427; 17194196

PARN (monoallelic)               

Lung cancer (if there is pulmonary fibrosis): Possibly increased

Custom Order

PMID: 20301779; 30285867

PARN (biallelic)             

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Squamous cell carcinoma of the head and neck or anogenital region: Possibly increased

Custom Order

PMID: 20301779; 19282459; 25893599; 26810774

PAX5             

Acute lymphoblastic leukemia (ALL): Possibly increased

  

Custom Order

PMID: 33036026; 24013638

PDGFRA              

Gastrointestinal stromal tumor (GIST): Possibly increased

 

Comprehensive (81 genes)

PMID: 27437068

PHOX2B          

Neuroblastoma: Up to 50%
Ganglioneuroblastoma: <5%
Ganglioneuroma: <5%

     

Comprehensive (81 genes)

PMID: 20301600; 28607627; 15338462

PIK3CA

Possibly increased

 

Possibly increased

         

Thyroid cancer: Possibly increased

   

Custom Order

PMID: 23246288

PMS1

Possibly increased

               

Custom Order

PMID: 25151137; 29752822; 32029870

PMS2  

13-26%

8.7-20%

            

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, Endometrial, and Gastric V.1.2025
PMID: 20825397; 32534647; 37238164; 37509324

POLD1

Possibly increased (limited evidence)

 

Increased

>20% cancer risk
Increased risk for polyposis (many polyps)

      

Possibly increased (limited evidence)

   

Duodenal adenomas: Increased
Duodenal cancer: Increased

Other cancers: Possibly increased (limited evidence)

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.1.2025

POLE

Possibly increased (limited evidence)

 

Increased

>20% cancer risk
Increased risk for polyposis (many polyps)

Possibly increased (limited evidence)

         

Duodenal adenomas: Increased
Duodenal cancer: Increased

Other cancers: Possibly increased (limited evidence)

Multi-Cancer (40 genes)
Comprehensive (81 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.1.2025

POLH (biallelic)    

Increased

          

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased
Eye cancer: Increased

Custom Order

PMID: 20301571

POT1    

Cutaneous melanoma: Increased

    

Angiosarcomas (cardiac and breast): Increased

Glioma: Possibly increased

  

Chronic lymphocytic leukemia (CLL): Increased

  

Comprehensive (81 genes)

PMID: 33119245; 28853721; 27528712

PRF1 (biallelic)             

Non-Hodgkins lymphoma (NHL): Increased

  

Custom Order

PMID: 20301617

PRKAR1A 

Ovarian tumors: Possibly increased

       

Cardiac myxoma: 20-40%
Breast myxoma: Up to 20%

Psammomatous melanotic schwannoma: 10%

 

Primary pigmented nodular adrenocortical disease: 25%
Growth hormone-producing
adenoma: Up to 75%
Thyroid adenoma or carcinoma: Up to 75%

  

Large-cell calcifying Sertoli cell tumors: Up to 41% in males
Skin lesions: 30-80%

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

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024
PMID: 24624459; 30241646

PTCH1         

Jaw keratocysts: 90%
Cardiac fibroma: 2%
Ovarian fibroma: 20%

Medulloblastoma: 2%

    

Basal cell carcinoma: Up to 90%

Comprehensive (81 genes)

PMID: 20301330; 27386043; 30725766; 32698852; 31778444; 28620006; 8042673; 25403219

PTCH2         

Cardiac fibroma: Possibly increased
Ovarian fibroma: Possibly increased

Meningioma: Possibly increased
Medulloblastoma: Possibly increased

    

Basal cell carcinoma: Possibly increased

Custom Order

PMID: 18285427; 31945512

PTEN

Female: 40->60%

 

28%

9-20%

6%

   

34%

   

Thyroid: 35%

   

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, Pancreatic, and Prostate V.2.2025
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.3.2024
PMID: 20301661

RAD50

Possibly increased

Possibly increased

              

Custom Order

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and
Pancreatic V.3.2025
PMID: 28418444; 35159349; 32212377

RAD51C

Female: ~20%

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, Pancreatic, and Prostate V.2.2025
PMID: 37239385

RAD51D

Female: ~20%

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, Pancreatic, and Prostate V.2.2025

RB1    

Melanoma: Increased, especially if retinoblastoma was treated with radiation therapy

    

Osteosarcoma and soft tissue sarcoma: Increased, especially if retinoblastoma was treated with radiation therapy

Pinealoma: Increased

Epithelial bladder cancers: Possibly increased

   

Retinoblastoma: Up to 90% (often bilateral)
Epithelial cancers (including lung): Possibly increased

Comprehensive (81 genes)

PMID: 29056300; 20301625; 20237571; 14996857; 33801943

RECQL

Possibly increased

               

Custom Order

PMID: 25915596; 25945795; 28724667; 27125668; 30610487

RECQL4 (biallelic)    

Increased

    

Osteosarcoma: Increased

   

Lymphoma: Increased

 

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased

Custom Order

PMID: 20301415; 20301383

REST        

Wilms tumor: Increased

       

Custom Order

PMID: 26551668; 32412586; 30885698

RET            

Medullary thyroid cancer: 95% (MEN2A) - 100% (MEN2B and FMTC)
Pheochromocytoma: 50% (MEN2A and MEN2B)
Parathyroid disease: 20-30% (MEN2A) (rare in MEN2B)

   

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

RINT1               

Infantile liver failure syndrome 3: Emerging evidence

Custom Order

PMID: 27544226; 33471991

RNF43   

Colorectal: Increased* if there is serrated polyposis syndrome
Serrated polyps: Increased*
*Risk is higher than for the average person, but the exact level of increased risk is not known

            

Multi-Cancer (40 genes)

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.4.2024
PMID: 26911398

RPL11   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RPL15   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

Custom Order

PMID: 20301769;
29051281

RPL18   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

Custom Order

PMID: 20301769;
29051281

RPL19         

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

  

Custom Order

PMID: 22431104; 30503522

RPL26   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

Custom Order

PMID: 20301769;
29051281

RPL27   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

Custom Order

PMID: 20301769; 29051281

RPL35   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

Custom Order

PMID: 20301769; 29051281

RPL35A   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RPL5   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RPS10   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RPS15A   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

Custom Order

PMID: 20301769; 29051281

RPS17   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RPS19   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

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

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RPS26   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RPS27   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

Custom Order

PMID: 20301769; 29051281

RPS28   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

Custom Order

PMID: 20301769; 29051281

RPS29   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RPS7   

Increased

     

Osteogenic sarcoma: Increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Lung cancer: Increased
Cervical cancer: Increased

Custom Order

PMID: 20301769; 29051281

RTEL1             

Myelodysplastic syndrome (MDS) and myeloid leukemia: Increased

 

Solid tumors, most often squamous cell carcinoma of the head and neck, anal and genital areas: Increased

Custom Order

PMID: 20301779

RUNX1             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): 20-50%

  

Comprehensive (81 genes)

PMID: 33661592; 18723428; 19357396

SAMD9L             

Myelodysplastic syndrome (MDS) and myeloid leukemia: Increased

  

Custom Order

PMID: 28570036

SDHA        

Increased

   

Thyroid: Increased
Paraganglioma: Increased
Pheochromocytoma: Increased

 

Gastrointestinal stromal tumor (GIST): Increased

 

Comprehensive (81 genes)

PMID: 20301715

SDHAF2            

Paraganglioma: Increased (especially if paternally inherited)
Pheochromocytoma: Possibly increased

   

Comprehensive (81 genes)

PMID: 20301715; 31390501; 33081307; 21224366; 30536464

SDHB        

Increased

   

Thyroid: Increased
Paraganglioma: Increased
Pheochromocytoma: Increased

 

Gastrointestinal stromal tumor (GIST): Increased

 

Comprehensive (81 genes)

PMID: 20301715

SDHC        

Increased

   

Thyroid: Increased
Paraganglioma: Increased
Pheochromocytoma: Increased

 

Gastrointestinal stromal tumor (GIST): Increased

 

Comprehensive (81 genes)

PMID: 20301715

SDHD        

Increased

   

Thyroid: Increased
Paraganglioma: Increased
Pheochromocytoma: Increased

 

Gastrointestinal stromal tumor (GIST): Increased

 

Comprehensive (81 genes)

PMID: 20301715

SLC45A2 (monoallelic)    

Possibly increased

           

Custom Order

PMID 28192564; 20301683

SLC45A2 (biallelic)    

Possibly increased

          

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased

Custom Order

PMID 20301683

SLX4 (monoallelic)

Possibly increased

               

Custom Order

PMID: 30306255; 28202063; 22911665; 23211700; 23840564; 24733792

SLX4 (biallelic)             

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma: Increased
Other solid tumors: Increased

Custom Order

PMID: 20301575

SMAD4   

Up to 50%

  

Up to 21%

       

Small intestine: Possibly increased

 

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
of hypercalcemic type: Possibly increased

       

Rhabdoid tumors: Possibly increased in infants/children (preliminary evidence)

      

Comprehensive (81 genes)

PMID: 25886974; 29215836

SMARCB1         

Rhabdoid tumor (kidney, CNS and/or other organs): Increased

Schwannoma: Increased
Meningioma: Mildly increased
Malignant 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             

Leukemia: Possibly increased

  

Custom Order

PMID 20945555

SRP72             

Myelodysplastic syndrome (MDS): Possibly increased

  

Custom Order

PMID: 22541560

STK11

Female: 32-54%

Sex cord tumors with annular tubules (SCTAT): At least 20%

9-10%

39%

 

11-36%

29%

       

Small intestine: 13%

Lung cancer: 7-17%
Testicular (Sertoli cell tumors): 9%
Cervical cancer: At least 10%

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, Endometrial, and Gastric V.3.2024;
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate V.2.2025;
PMID: 20301443

SUFU         

Cardiac fibroma: 2%
Ovarian fibroma: Increased

Medulloblastoma: Up to 33%

    

Basal cell carcinoma: Up to 90%

Comprehensive (81 genes)

PMID: 20301330; 28620006; 21834049; 33024317; 28965847

TERC             

Acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma of head and neck or anogenital region: Increased

Comprehensive (81 genes)

PMID: 20301779; 33808277

TERT (monoallelic)             

Acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma of head and neck or anogenital region: Increased

Comprehensive (81 genes)

PMID: 20301779; 19282459; 33808277

TERT (biallelic)             

Acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma of head and neck or anogenital region: Increased

Comprehensive (81 genes)

PMID: 20301779; 19282459; 33808277

TINF2             

Acute myeloid leukemia (AML): Increased

 

Squamous cell carcinoma of head and neck or anogenital region: Increased

Custom Order

PMID 20301779

TMEM127        

Possibly increased

   

Paraganglioma: Increased
Pheochromocytoma: Increased

   

Comprehensive (81 genes)

PMID: 24334765; 20301715; 31390501; 21613359

TP53

Female: >60%

  

5-20%

Increased

~5%

10.7%

Increased

 

Soft-tissue sarcoma and osteosarcoma: Increased; can occur in childhood

Increased risk; can occur in childhood

 

Adrenocortical carcinoma: Increased risk; typically occurs in childhood

Leukemia and lymphoma: Increased risk; can occur in childhood

  

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,
Pancreatic, and Prostate V.3.2025
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal, Endometrial, and Gastric V.1.2025
PMID: 34709361; 36827971; 31069009; 29977421; 20301488

TRIM28        

Wilms tumor: Increased

       

Custom Order

PMID: 20301471; 30885698; 29912901; 30694527; 33565090; 32412586

TRIP13 (biallelic)        

Wilms tumor: Possibly increased

       

Custom Order

PMID: 28553959

TSC1        

Kidney cancer: 2-5%
Kidney tumors: Increased

Cardiac rhabdomyomas: Increased, highest risk during neonatal period

Increased

    

Hamartomas: Increased
Lymphangioleiomyomatosis (LAM): Increased, mainly in females
Skin lesions: Increased
Oral findings: Increased

Comprehensive (81 genes)

PMID: 20301399

TSC2        

Kidney cancer: 2-5%
Kidney tumors: Increased

Cardiac rhabdomyomas: Increased, highest risk during neonatal period

Increased

    

Hamartomas: Increased
Lymphangioleiomyomatosis (LAM): Increased, mainly in females
Skin lesions: Increased
Oral findings: Increased

Comprehensive (81 genes)

PMID: 20301399; 31160751

TSR2 (hemizygous)   

Possibly increased

     

Osteogenic sarcoma: Possibly increased

   

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Possibly increased

 

Lung cancer: Possibly increased
Cervical cancer: Possibly increased

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PMID 20301769; 29051281

TYR (monoallelic)    

Possibly increased

          

Squamous cell carcinoma of the skin: Possibly increased
Basal cell carcinoma of the skin: Possibly increased

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PMID 29036293; 31233279

TYR (biallelic)    

Possibly increased

          

Squamous cell carcinoma of the skin: Possibly increased
Basal cell carcinoma of the skin: Possibly increased

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PMID 37053367

USB1 (biallelic)             

Myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML): Increased

 

Squamous cell carcinoma of the skin: Increased

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PMID 29072891

VHL     

Pancreatic neuroendocrine tumor: ~5-17%

  

~70% by age 60

 

CNS Hemangioblastoma: ~60-80%

  

Pheochromocytoma: 10-20%

 

Endolymphatic sac tumor: ~10-16%

Multi-Cancer (40 genes)
Comprehensive (81 genes)

PMID: 20301636

WRAP53 (biallelic)              

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML)

 

Squamous cell carcinoma of the head and neck or anogenital region: Possibly increased

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PMID: 20301779; 19282459

WRN (biallelic)    

Increased

    

Soft-tissue sarcoma and osteosarcoma: Increased

Meningioma: Possibly increased

 

Thyroid: Increased

Leukemia: Possibly increased

  

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PMID: 20301687; 23573208; 24356923; 26993153

WT1        

Wilms tumor: Increased

      

Gonadoblastoma: Increased

Comprehensive (81 genes)

PMID: 32352694; 34134020

XPA (biallelic)    

Increased

          

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased
Eye cancer: Increased

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PMID: 20301571

XPC (biallelic)    

Increased

          

Basal cell carcinoma: Increased
Squamous cell carcinoma: Increased
Eye cancer: Increased

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PMID: 20301571

XRCC2

Possibly increased

               

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NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and
Pancreatic V.2.2024

Last Updated 7/2025

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