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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, 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 OrderPMID: 22357538
ACD         

Possibly increased: squamous cell carcinoma of head and neck or anogenital region, acute myelogenous leukemia (AML)

Custom OrderPMID: 25205116
AIP   

Increased in mutation carriers who also have a diagnosis of acromegaly

     

Pituitary adenoma: Increased
PMID: 23371967, 22720333

Comprehensive (81 genes)PMID: 22720333, 23371967
AKT1

Possibly increased

 

Possibly increased

Possibly increased

Possibly increased

   

Possibly increased

Possibly increased: thyroid cancer

Custom OrderPMID: 23246288
ALK         

Neuroblastic tumor: Increased
PMID: 28674118, 20301782

Comprehensive (81 genes)PMID: 28674118, 20301782
ANKRD26         

Possibly increased:
Myeloid malignancies including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia

Custom OrderPMID: 29927566; 29222283
AP2S1         

Possibly increased:
Hyperparathyroidism

Custom OrderPMID: 26082470; 23222959; 24731014
APC   

Without removal of colon for FAP: up to 100%
Without removal of colon for AFAP: up to 70%
Rectal cancer risk after removal of colon for FAP: 10-30%

  

0.1-7.1%

  

Thyroid: <2%
Duodenal: 4-12%
PMID: 28185118, 26819281
Brain/CNS: Increased
PMID: 17238184, 18612695
Hepatoblastoma: 1-2%
PMID: 16317745, 18612695, NCCN CRC

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%*

*Carriers of the c.7271T>G variant have a higher risk for breast cancer, estimated to be as high as 69% by age 70

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 OrderPMID: 22341969; 17431037; 27433846; 29915322
AXIN2   

Unknown; not enough data to define
Increased risk for polyposis (many polyps)

      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%
PMID: 26096145

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 OrderPMID: 20301572; 30055079; 34650095
BLM (monoallelic)   

Possibly increased

      Custom OrderPMID: 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
PMID: 9429144

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%
Male: 0.2- 1.2%

39-58%

Possibly slightly increased (limited data)

  

 

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%
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 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 OrderPMID: 15475955
CASR     

Possibly increased: Increased, if there is chronic pancreatitis

   

Possibly increased: Hyperparathyroidism

Custom OrderPMID: 24624459; 30241646; 32386559; 7916660; 16497624; 18938753
CDC73  

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

     

Renal tumors: ~13-15%

Hyperparathyroidism: up to 87%
PMID: 25959515
Parathyroid cancer: ~15-23%
PMID: 25959515, 31929790
Jaw tumors: ~30%
PMID 31929790

Comprehensive (81 genes)PMID: 31929790, 26450137
CDH1

Female: 41-60%

     

Female: 83%
Male: 67%

   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%
Pituitary adenoma: ~37%
Neuroendocrine tumor ~37%
PMID: 28824003

Comprehensive (81 genes)PMID: 28824003, 30990521
CDKN1C        

Wilms tumor: 1.4%

Hepatoblastoma: Increased
Adrenal cortical carcinoma: Increased
Neuroblastoma: Increased
Rhabdomyosarcoma: Increased
PMID: 12138139

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
PMID: 26162409

Comprehensive (81 genes)PMID: 26162409, 20963938
CEP57 (biallelic)          Custom OrderPMID: 21552266
CFTR (biallelic)     

Possibly increased: Increased, if there is chronic pancreatitis

    Custom OrderPMID: 21844754; 24624459; 27555793; 32172939; 9725921; 21520337
CFTR (monoallelic)     

Possibly increased: Increased, if there is chronic pancreatitis

    Custom OrderPMID: 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 OrderPMID: 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 OrderPMID: 20301779; 19282459
CTNNA1

Possibly increased

     

Possibly increased

   Custom OrderPMID: 37686589; 37669414; 37165697; 36741258
CTR9        

Possibly increased: Wilms tumor

 Custom OrderPMID: 25099282
CTRC     

Possibly increased: Increased, if there is chronic pancreatitis

    Custom OrderPMID: 24624459; 30241646
CYLD         

Cylindroma, spiradenoma, or trichoepithelioma: Significantly increased
PMID: 34744449
Salivary gland cancer: Increased
Non-melanoma skin cancer: Increased
PMID: 34744449, 32298062

Comprehensive (81 genes)PMID: 34744449, 32298062
DDB2 (biallelic)    

Increased

    

Basal cell carcinoma, squamous cell carcinoma, eye cancer

Custom OrderPMID 20301571
DDX41         

Myeloid and lymphoid blood cancers: Increased
PMID: 34723452, 34349893

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
Pleuropulmonary blastoma: Increased; onset in childhood
PMID: 29343557, 24761742

Comprehensive (81 genes)PMID: 24761742, 29343557
DIS3L2 (biallelic)        

Increased: Wilms tumor
(> 32%)

 Custom OrderPMID: 18780370; 34134020
DIS3L2 (monoallelic)          Custom OrderPMID: 18780370; 34134020
DKC1         

Increased in males: acute myeloid leukemia, squamous cell carcinoma (SCC) of head and neck or anogenital region

Custom OrderPMID: 19282459; 20301779;
EGFR (T790M)         

Lung: Increased, up to 31%
PMID: 24736066

Comprehensive (81 genes)PMID: 24736066, 34164592
EGLN1         

Possibly increased: paraganglioma

Custom OrderPMID: 25263965; 19092153; 30877234
ENG   

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

      Custom OrderPMID: 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%
PMID 21642682, 28754778
Brain/CNS: 2.5-7.7%
PMID 28754778, 31337882, 18398828
Urothelial: 2.2-28%
PMID 23091106, 21642682, 26657901, 31337882, 26385421, 18398828
Bladder: 4.4-12.8%
PMID 21642682, 26657901, 31337882, 26385421
Small bowel: 1.1-10%
PMID 21642682, 28754778, 31337882, 18398828

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 OrderPMID: 26094658; 29752822; 31452768; 31477031; 19055823
ERCC1 (biallelic)    

Possibly increased

    

Possibly increased: Basal cell carcinoma, squamous cell carcinoma, melanoma

Custom OrderPMID: 20301571
ERCC2 (biallelic)    

Increased

    

Basal cell carcinoma, squamous cell carcinoma, eye cancer

Custom OrderPMID 20301571
ERCC3 (biallelic)    

Increased

    

Basal cell carcinoma, squamous cell carcinoma, eye cancer

Custom OrderPMID 20301571
ERCC4 (biallelic)    

Increased

    

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), basal cell carcinoma, squamous cell carcinoma, eye cancer

Custom OrderPMID 20301571
ERCC5 (biallelic)    

Increased

    

Basal cell carcinoma, squamous cell carcinoma, eye cancer

Custom OrderPMID 20301571
EXT1         

Osteochondromas: ~96%
Chondrosarcoma: 2-5%
PMID: 20301413, 8027127, 22258776, 25582066

Comprehensive (81 genes)PMID: 20301413, 8027127, 22258776, 25582066
EXT2         

Osteochondromas: ~96%
Chondrosarcoma: 2-5%
PMID: 20301413, 8027127, 22258776, 25582066

Comprehensive (81 genes)PMID: 20301413, 8027127, 22258776, 25582066
EZH2         

Possibly increased: Leukemia, lymphoma, neuroblastoma

Custom OrderPMID: 23865096; 31724824
FAN1   

Possibly increased

      Custom OrderPMID: 32449991; 26052075
FANCA (biallelic)         

Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas,
Other solid tumors

Custom OrderPMID 20301575
FANCB (hemizygous)         

Acute myeloid leukemia, squamous cell carcinomas
Other solid tumors

Custom OrderPMID 20301575
FANCC (biallelic)         

Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas,
Other solid tumors

Custom OrderPMID 20301575
FANCD2 (biallelic)         

Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas,
Other solid tumors

Custom OrderPMID 20301575
FANCE (biallelic)         

Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas,
Other solid tumors

Custom OrderPMID 20301575
FANCF (biallelic)         

Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas,
Other solid tumors

Custom OrderPMID 20301575
FANCG (biallelic)         

Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas,
Other solid tumors

Custom OrderPMID 20301575
FANCI (biallelic)         

Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas,
Other solid tumors

Custom OrderPMID 20301575
FANCL (biallelic)         

Myelodysplastic syndrome, acute myeloid leukemia, squamous cell carcinomas,
Other solid tumors

Custom OrderPMID 20301575
FANCM (biallelic)          Custom OrderPMID 30075111; 29895858;
FBXW7        

Possibly increased: Wilms tumor

 Custom OrderPMID: 30885698
FH        

10-19% (most commonly papillary RCC)

Paraganglioma and pheochromocytoma: increased in association with particular variants
PMID: 12772087, 28300276

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)

 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 OrderPMID: 20301538; 35328001; 24453067; 20301769
GATA2         

Myelodysplastic syndrome/acute myeloid leukemia: Increased | PMID: 22691122

Comprehensive (81 genes)PMID: 22691122, 25397911
GEN1       

Possibly increased

  Custom OrderPMID: 27433846
GNA11         

Possibly increased: Hyperparathyroidism, hypocalciuria, hypercalcemia, hypocalcemia

Custom OrderPMID: 23802516; 26729423; 31672324
35679444
GPC3 (hemizygous)        

Increased: Wilms tumor

Medulloblastoma, adrenal neuroblastoma, hepatoblastoma,
hepatocellular carcinoma, gonadoblastoma

Custom OrderPMID: 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

Possibly increased: hepatocellular carcinoma

Custom OrderPMID: 31166087, 12355088, 23707370, 31483937, 15649945
HNF1B        

Possibly increased

 Custom OrderPMID: 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 OrderPMID: 20301680
KDM3B        

Possibly increased: Wilms tumor

 Custom OrderPMID: 20301471, 30885698
KIF1B         

Possibly increased: Neuroblastoma, pheochromocytoma

Custom OrderPMID: 18334619; 24694336; 27986441; 32565791
KIT         

Gastrointestinal stromal tumor (GIST): Increased
PMID: 27437068

Comprehensive (81 genes)PMID: 27437068
LZTR1 (biallelic)         

Peripheral nerve schwannoma; spinal schwannoma; unilateral vestibular schwannoma: Increased
PMID 29517885

Comprehensive (81 genes)PMID: 29517885, 28620004, 27921248
LZTR1 (monoallelic)         

Peripheral nerve schwannoma; spinal schwannoma; unilateral vestibular schwannoma: Increased
PMID 29517885

Comprehensive (81 genes)PMID: 29517885, 28620004, 27921248
MAX         

Pheochromocytoma: Increased
Paraganglioma: Possibly increased
PMID: 28384794

Comprehensive (81 genes)PMID: 28384794, 22452945, 20301715, 30536464
MBD4 one variant    

Uveal (eye) melanoma: Increased

     Custom OrderNCCN 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
Increased risk for polyposis (many polyps)

Uveal (eye) melanoma: Increased

    

Acute myeloid leukemia (AML): Increased
Schwannomas: Possibly increased

Custom OrderNCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.2.2023
PMID: 27911450; 35460607
MC1R    

Possibly increased

     Custom OrderPMID: 8894704; 24917043
MDM2          Custom OrderPMID: 17003841; 15550242
MEN1     

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

Gastric carcinoid tumors: 7-35%

  

Parathyroid tumors: 98%
PMID: 22723327, 11739416
Pituitary adenomas: 35%
PMID: 22723327, 11739416
Thymic carcinoid tumors: 10%
PMID: 22723327, 11739416
Lung neuroendocrine carcinoid tumor: 10%
PMID: 22723327, 11739416

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%
PMID: 21642682, 28754778
Brain/CNS: 0.7-1.7%
PMID: 27013479, 18398828
Renal pelvis and/or ureter: 0.2-5%
PMID: 21642682, 28754778, 27013479, 26385421, 23091106
Bladder: 2-7%
PMID: 28754778, 27013479, 26385421, 23091106
Small bowel: 0.4-11%
PMID: 21642682, 23413378, 23091106

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 OrderPMID: 30573798; 31043712
MRE11          Custom OrderPMID: 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%
PMID: 21642682, 28754778
Brain/CNS: 2.5-7.7%
PMID: 28754778, 31337882, 18398828
Urothelial: 2.2-28%
PMID: 21642682, 28754778, 31337882, 23091106, 26385421, 18398828
Bladder: 4.4-12.8%
PMID: 28754778, 31337882, 23091106, 26385421
Small bowel: 1.1-10%
PMID: 21642682, 28754778, 23091106, 18398828

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
Increased risk for polyposis (many polyps)

      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-PMID: 21642682, 28754778
Brain/CNS: 0.8-1.8%
PMID: 20028993, 27013479, 28466842
Urothelial: 0.7-5.5%
PMID: 21642682, 28754778, 27013479, 23091106, 26385421
Bladder: 1-8.2%
PMID: 28754778, 27013479, 23091106, 26385421
Small bowel: PMID: 21642682, 23091106

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%
PMID: 21171015, NCCN CRC

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
PMID: 19937438, 26926675, 16786042

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
Spinal tumors : 66%
Meningiomas: Up to 80%
Astrocytoma: Possibly increased
PMID: 20301380

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 OrderPMID: 18523010; 31985013
NOP10 (biallelic)         

Possibly increased: Acute myelogenous leukemia (AML), Squamous cell carcinoma of the head and neck or anogenital region

Custom OrderPMID: 17507419
NTHL1 (biallelic)

Female: 6-56% by age 60

 

6-56% by age 60

>20%
Increased risk for polyposis
(many polyps)

      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 OrderPMID: 30885698
PALB2

Female: 41-60%
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, and
Pancreatic V.3.2024.
PMID: 36827971, 25099575
PALLD     

Possibly increased

    Custom OrderPMID: 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 OrderPMID: 20301779; 19282459; 25893599; 26810774
PARN (monoallelic)         

Possibly increased: Lung cancer if there is pulmonary fibrosis

Custom OrderPMID: 20301779; 30285867
PAX5         

Possibly increased: Acute lymphoblastic leukemia

Custom OrderPMID: 33036026; 24013638
PDGFRA         

Gastrointestinal stromal tumor (GIST): PMID: Possibly increased | 27437068

Comprehensive (81 genes)PMID: 27437068
PHOX2B         

Neuroblastoma: Up to 50%
Ganglioneuroblastoma: <5%
Ganglioneuroma: <5%
PMID: 20301600

Comprehensive (81 genes)PMID: 20301600, 28607627, 15338462
PIK3CA

Possibly increased

 

Possibly increased

      

Possibly increased: thyroid cancer

Custom OrderPMID: 23246288
PMS1

Possibly increased

         Custom OrderPMID: 25151137; 29752822; 32029870
PMS2 

1.3-3%

13-26%

8.7-20%

  

Unknown

 

Up to 3.7%

Biliary tract: 0.2- PMID: 28754778
Brain/CNS: 0.6-PMID: 30161022
Urothelial: PMID: 31337882

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
Increased risk for polyposis (many polyps)

      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
Increased risk for polyposis (many polyps)

      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 OrderPMID 20301571
POT1    

Cutaneous melanoma: Increased

    

Chronic lymphocytic leukemia: Increased
Angiosarcomas (cardiac and breast): Increased
Glioma: Possibly increased
PMID: 33119245

Comprehensive (81 genes)PMID: 33119245, 28853721, 27528712
PRF1 (biallelic)          Custom OrderPMID: 20301617
PRKAR1A         

Myxoma: up to 40%
Primary pigmented nodular adrenocortical disease: 25%
Large-cell calcifying Sertoli cell tumors: up to 41%
Skin lesions: 30-80%
Ovarian tumors: possibly increased
PMID: 26130139, 25905341, 20301463

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 OrderPMID: 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%
Medulloblastoma: 2%
Cardiac fibroma: 2%
Ovarian fibroma: 20%
Jaw keratocysts: 90%
PMID: 20301330

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 OrderPMID: 18285427; 31945512
PTEN

Female: 40->60%

 

28%

11-20%

6%

   

34%

Thyroid: 21-38%
PMID: 17768394, 18972196, 22252256, 20565722

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 OrderPMID: 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)
PMID: 29056300
Pinealoma (tumor in the pineal gland in the brain): Increased
PMID 20301625
Osteosarcoma, Soft tissue sarcoma, Melanoma: Increased, especially if retinoblastoma was treated with radiation therapy
PMID 20301625
Epithelial cancers (including lung and bladder): Increased
PMID 20237571, 14996857

Comprehensive (81 genes)PMID: 29056300, 20301625, 20237571, 14996857, 33801943
RECQL4 (biallelic)    

Increased

    

Basal cell carcinoma, osteosarcoma, lymphoma, squamous cell carcinoma

Custom OrderPMID: 20301415; 20301383
REST        

Increased: Wilms tumor

 Custom OrderPMID: 26551668, 32412586, 30885698
RET         

Subtype:
[MEN2A]
Medullary thyroid cancer: 95%
Pheochromocytoma: 50%
Parathyroid disease: 20-30%
[FMTC]
Medullary thyroid cancer: 100%
[MEN2B]
Medullary thyroid cancer: 100%
Pheochromocytoma: 50%
Parathyroid disease: rare
PMID: 31390501

Comprehensive (81 genes)PMID: 20301434, 31390501, 25810047
RHBDF2         

Esophageal: Up to 95% (based on a small number of known affected families)
PMID: 18559331

Comprehensive (81 genes)PMID: 18559331, 26419362, 28723042
RINT1          Custom OrderPMID: 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 OrderPMID 20301769; 29051281
RPL15   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769;
29051281
RPL18   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769;
29051281
RPL19         

Possibly increased: myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 22431104; 30503522
RPL26   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769;
29051281
RPL27   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPL35   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPL35A   

Increased

     

Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPL5   

Increased

     

Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPS10   

Increased

     

Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPS15A   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPS17   

Increased

     

Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPS19   

Increased

     

Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 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 OrderPMID 20301769; 29051281
RPS26   

Increased

     

Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPS27   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPS28   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPS29   

Increased

     

Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RPS7   

Increased

     

Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
RTEL1         

Myelodysplastic syndrome (MDS) and myeloid leukemia, solid tumors most often SCC (head and neck, anal & genital)

Custom OrderPMID 20301779
RUNX1         

Myelodysplastic syndrome/acute myeloid leukemia: 20-50%
PMID: 33661592

Comprehensive (81 genes)PMID: 33661592, 18723428, 19357396
SAMD9L         

Myelodysplastic syndrome (MDS) and myeloid leukemia

Custom OrderPMID 28570036
SDHA        

Increased

Gastrointestinal stromal tumor (GIST): Increased
Thyroid: Increased
Paraganglioma/Pheochromocytoma: Increased
PMID: 20301715

Comprehensive (81 genes)PMID: 20301715
SDHAF2         

Gastrointestinal stromal tumor (GIST): Possibly increased
Paraganglioma: Increased; Pheochromocytoma: Possibly increased
PMID: 31390501, 21224366

Comprehensive (81 genes)PMID: 20301715, 31390501, 33081307, 21224366, 30536464
SDHB        

Increased

Gastrointestinal stromal tumor (GIST): Increased
Thyroid: Increased
Paraganglioma/Pheochromocytoma: Increased
PMID: 20301715

Comprehensive (81 genes)PMID: 20301715
SDHC        

Increased

Gastrointestinal stromal tumor (GIST): Increased
Thyroid: Increased
Paraganglioma/Pheochromocytoma: Increased
PMID: 20301715

Comprehensive (81 genes)PMID: 20301715
SDHD        

Increased

Gastrointestinal stromal tumor (GIST): Increased
PMID: 20301715
Thyroid: Increased
Paraganglioma/Pheochromocytoma: Increased
PMID: 20301715

Comprehensive (81 genes)PMID: 20301715
SLC45A2 (biallelic)    

Possibly increased

    

Other skin cancers (BCC and SCC)

Custom OrderPMID 20301683
SLC45A2 (monoallelic)    

Possibly increased

     Custom OrderPMID 28192564; 20301683
SLX4 (biallelic)         

Myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), squamous cell carcinomas, other solid tumors

Custom OrderPMID 20301575
SLX4 (monoallelic)

Possible

         Custom OrderPMID 30306255; 28202063; 22911665; 23211700; 23840564; 24733792
SMAD4   

Up to 50%

  

Up to 21%

  

Small bowel: Rare, currently undefined
PMID: 25645574

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 (preliminary evidence)
PMID: 25886974, 27866340, 20137775, 25060813

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
PMID: 29215836, 33692948, 28620006
[Schwannomatosis]: Schwannoma: Increased; Meningioma: Mildly increased; Malignant schwannoma: Possibly increased
PMID: 29215836, 33692948, 28620006

Comprehensive (81 genes)PMID: 29215836, 29517885, 33692948, 28620006
SMARCE1         

Meningioma: Increased
PMID: 29215836, 26803492, 27891692, 27264197

Comprehensive (81 genes)PMID: 26803492, 27891692, 27264197
SPINK1     

Possibly increased: Increased, if there is chronic pancreatitis

    Custom OrderPMID: 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 OrderPMID 20945555
SRP72         

Possibly increased: myelodysplastic syndrome (MDS)

Custom OrderPMID: 22541560
STK11

Female: 32-54%

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

9%

39%

 

11-36%

29%

  

Small bowel: 13%
PMID: 16707622, 11113065
Lung: 7-17%
PMID: 16707622, 11113065
Testicular tumors: 9%
PMID: 16707622
Cervical adenoma malignum: 10%
PMID: 16707622

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%
Medulloblastoma: Up to 33%
Cardiac fibroma: 2%
Ovarian fibroma: Increased
PMID: 20301330

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
PMID: 20301779

Comprehensive (81 genes)PMID: 20301779, 33808277
TERT (biallelic)         

Acute myeloid leukemia; squamous cell carcinoma of head and neck; anal cancer; genital cancer: Increased
PMID: 20301779

Comprehensive (81 genes)PMID: 20301779, 19282459, 33808277
TERT (monoallelic)         

Acute myeloid leukemia; squamous cell carcinoma of head and neck; anal cancer; genital cancer: Increased
PMID: 20301779

Comprehensive (81 genes)PMID: 20301779, 19282459, 33808277
TINF2         

Acute myeloid leukemia (AML), solid tumors most often SCC (head and neck, anal & genital)

Custom OrderPMID 20301779
TMEM127        

Possibly Increased

Gastrointestinal stromal tumor (GIST): Possibly increased
PMID: 24334765, 31390501, 21613359
Pheochromocytoma/Paraganglioma: Increased
PMID: 31390501, 21613359

Comprehensive (81 genes)PMID: 24334765, 20301715, 31390501, 21613359
TP53

Female: >60%

  

>20%

 

5%

   

Sarcoma: Increased
PMID 27496084, 1933872, 20301488
Brain/CNS: Increased
PMID 27496084, 1933872, 20301488
Adrenocortical carcinoma: increased
PMID 27496084, 1933872, 20301488
Leukemia: Risk not well established
PMID 27496084, 23334668, 24706533,20301488

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 OrderPMID: 20301471; 30885698; 29912901; 30694527; 33565090; 32412586
TRIP13 (biallelic)        

Possibly increased: Wilms tumor

 Custom OrderPMID 28553959
TSC1        

Kidney cancer: 2-5%
Kidney tumors: Increased

Brain/CNS: Increased
PMID: 20301399
Lung (lymphangioleiomyomatosis): Increased in females
PMID: 20301399
Cardiac rhabdomyomas: Increased
PMID: 20301399

Comprehensive (81 genes)PMID: 20301399
TSC2        

Kidney cancer: 2-5%
Kidney tumors: Increased

Brain/CNS: Increased
PMID: 20301399
Lung (lymphangioleiomyomatosis): Increased in females
PMID: 20301399
Cardiac rhabdomyomas: Increased
PMID: 20301399

Comprehensive (81 genes)PMID: 20301399
TSR2 (hemizygous)   

Possibly increased

     

Possibly increased: Lung cancer, cervical cancer, myelodysplastic syndrome, acute myelogenous leukemia, osteogenic sarcoma

Custom OrderPMID 20301769; 29051281
TYR (biallelic)    

Possibly increased

    

Skin cancer (BCC & SCC)

Custom OrderPMID 37053367
TYR (monoallelic)    

Possibly increased

    

Possibly increased: other skin cancer (BCC & SCC)

Custom OrderPMID 29036293; 31233279
USB1 (biallelic)         

Myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), skin cancer (squamous cell carcinoma)

Custom OrderPMID 29072891
VHL     

Pancreatic Neuroendocrine tumor: ~5-17%

  

~70% by age 60

CNS Hemangioblastoma: 60-80%
PMID: 20301636
Pheochromocytoma: 10-20%
PMID: 20301636
Endolymphatic sac tumor: 10-16%
PMID: 20301636

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 OrderPMID: 20301779; 19282459
WRN (biallelic)    

Increased

    

Thyroid, soft-tissue sarcoma, osteosarcoma

Possibly increased: Meningioma, leukemia

Custom OrderPMID: 20301687; 23573208; 24356923; 26993153
WT1        

Wilms tumor: Increased

Gonadoblastoma: Increased
PMID: 32352694, 34134020

Comprehensive (81 genes)PMID: 32352694, 34134020
XPA (biallelic)    

Increased

    

Basal cell carcinoma, squamous cell carcinoma, eye cancer

Custom OrderPMID 20301571
XPC (biallelic)    

Increased

    

Basal cell carcinoma, squamous cell carcinoma, eye cancer

Custom OrderPMID 20301571
XRCC2

Possibly increased

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