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Empower gene table with cancer risk recommendations

Hover your mouse over a colored dot to view how that gene mutation confers risk for each of eight hereditary cancer types. The percentage 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.

*Values indicate lifetime risk percentages Current as of October 2020

Panel Gene Breast Ovarian Endometrial Colorectal Melanoma Pancreatic Gastric Prostate Other
BRCA1
& BRCA2
BRCA1
Up to 87% (Male 1.2%) | PMID:7907678, 12677558, 18042939
Up to 62% | PMID: 7907678, 12677558, 28632866
     
1-3% | PMID: 12237281, 23099806, 22187320, 21598239
 
Up to 16% | PMID: 14966099, 23747895, 19188187
 
BRCA1
& BRCA2
BRCA2
Up to 84% (Male 6.8%) | PMID: 9497246, 18042939, 20587410
Up to 27% | PMID: 9497246
   
Increased | PMID: 22187320
2-7% | PMID: 12237281, 23099806, 22187320, 21598239
 
Up to 20% | PMID: 14966099, 23747895
 
19
gene GYN guideline based panel
ATM
17-52% (Male Increased) | PMID: 16998505, 1961222, 15928302,16958054
Possibly increased | PMID: 25622547
     
Increased | PMID: 22585167
     
19
gene GYN guideline based panel
BRIP1
Possibly increased | PMID: 21964575, 17033622
5-8% | PMID: 21964575, 26315354
             
19
gene GYN guideline based panel
CDH1
39-52% (Male possibly increased) | PMID: 11729114, 17545690, 25979631
   
Possibly increased | PMID: 26182300, 10072428, 25979631
   
56-83% (Male: 67-70%) | PMID: 11729114, 20591882, 25979631
   
19
gene GYN guideline based panel
CHEK2
25-39% | PMID: 18172190, 21876083
   
Increased | PMID: 21807500, 23713947, 23946381, 17164383
         
19
gene GYN guideline based panel
EPCAM  
8-38% | PMID: 23091106, 21642682, 28754778, 26657901, 31337882
21-57% | PMID: 21642682, 28754778, 26657901, 31337882
33-52% | PMID: 21642682, 28754778, 26657901, 28772289
   
0.2-9% | PMID: 23091106, 21642682, 31337882, 18398828, 19900449
Up to 15.9% | PMID: 31337882, 31337882, 27013479
Biliary tract: 0.02%-1.7% | PMID 21642682, 28754778; Brain/CNS: 2.5-7.7% | PMID 28754778, 31337882, 18398828; Urothelial cancer: 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
19
gene GYN guideline based panel
MLH1
Up to 18.6% | PMID: 19215248, 31337882 , 26101330, 23091106
4-20% | PMID: 21642682, 23091106
34-54% | PMID: 21642682, 26657901
46-61% | PMID: 21642682, 28754778, 28772289
 
6.2% | PMID: 28754778
5-7% | PMID: 28754778, 19900449, 23091106
 
Biliary tract: 1.9-3.7% | PMID: 21642682, 28754778; Brain/CNS: 0.7-1.7% | PMID: 27013479, 18398828; Urothelial: 0.2-5% renal pelvis and/or ureter | PMID: 21642682, 28754778, 27013479, 26385421, 23091106; Bladder: 2-7% | PMID: 28754778, 27013479, 26385421, 23091106; Small bowel: 0.4-11% | PMID: 21642682, 23413378, 23091106
19
gene GYN guideline based panel
MSH2  
8-38% | PMID: 23091106, 21642682, 28754778, 26657901, 31337882
21-57% | PMID: 21642682, 28754778, 26657901, 31337882
33-52% | PMID: 21642682, 28754778, 26657901, 28772289
 
0.5-1.6% | PMID: 28754778
0.2-9% | PMID: 21642682, 28754778, 23091106, 18398828, 19900449
Up to 15.9% | PMID: 31337882, 23091106, 27013479
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
19
gene GYN guideline based panel
MSH6  
</=1-13% | PMID: 21642682, 28754778
16-49% | PMID: 21642682, 28754778, 20028993
10-44% | PMID: 21642682, 28754778, 20028993, 31204389, 28772289
 
1.4-1.6% | PMID: 28754778
</=1-7.9% | PMID: 21642682, 27013479
 
Biliary tract: 0.2-</=1% | 21642682, 28754778; Brain/CNS: 0.8-1.8%| 20028993, 27013479, 28466842; Urothelial: 0.7-5.5% | 21642682, 28754778, 27013479, 23091106, 26385421; Bladder: 1-8.2% | 28754778, 27013479, 23091106, 26385421; Small bowel: 0-3% | 21642682, 23091106
19
gene GYN guideline based panel
NBN
Possibly increased | PMID: 17957789, 21514219, 21514219, 16770759, 23765759
Possibly increased | PMID: 22006311, 26315354
             
19
gene GYN guideline based panel
NF1
Increased (up until age 50) | PMID: 17369502, 26926675, 16786042, 25742481, 17105749
         
Gastrointestinal stromal tumor (GIST): Increased | PMID: 26511941
 
Peripheral nerve sheath tumors: Increased | 19937438, 26926675, 16786042; Gastrointestinal stromal tumor (GIST): Increased | 26511941
19
gene GYN guideline based panel
PALB2
17-58% | PMID: 25099575, 26014596
Possibly increased | PMID: 26720728, 24448499
     
Increased | PMID: 30883245
     
19
gene GYN guideline based panel
PMS2  
3% | PMID: 31337882
13-26% | PMID: 18602922, 30161022, 28754778, 26657901, 31337882
8.7-20% | PMID: 18602922, 30161022, 31204389
       
Biliary tract: 0.2- </=1% | 28754778; Brain/CNS: 0.6-</=1% | 30161022; Urothelial: </=1-3.7% | 31337882
19
gene GYN guideline based panel
PTEN
77-85% | PMID: 18972196, 3698331, 657103, 24136893, 23335809,20565722, 22252256
 
19-28% | PMID: 18972196, 24136893, 15589575
9-16% | PMID: 22252256, 20565722
Up to 6% | PMID: 22252256, 20565722
     
Renal: 15-34% | PMID: 22252256, 20565722; Thyroid: 21-38% | PMID: 17768394, 18972196, 22252256, 20565722
19
gene GYN guideline based panel
RAD51C
Possibly increased | PMID: 23586058
5-6% | PMID: 27296296, 22538716, 26261251
             
19
gene GYN guideline based panel
RAD51D
Possibly increased | PMID: 23586058
7-14% | PMID: 27296296, 21822267, 26261251
             
19
gene GYN guideline based panel
STK11
32-54% | PMID: 16707622, 11113065
Sex cord stromal tumors: 18-21% | PMID: 16707622, 11113065
9% | PMID: 16707622, 11113065
39% | PMID: 16707622, 11113065
 
11-36% | PMID: 16707622, 11113065
29.% | PMID: 16707622, 11113065
 
Small bowel: 13% | PMID: 16707622, 11113065; Lung: 7-17% | PMID: 16707622, 11113065; Testicular tumors: 9% | PMID: 16707622; Cervical adenoma malignum: 10% | PMID: 16707622
19
gene GYN guideline based panel
TP53
Up to 85% | PMID: 27496084, 1933872, 20805372
   
Increased risk; can occur at young ages | PMID: 27496084,20301488
Possibly increased | PMID: 21339461, 28218344, 20301488
Possibly increased | PMID: 20301488
Possibly increased | PMID: 21552135,20301488
 
Sarcoma: Increased | PMID 27496084, 1933872, 20301488; CNS/Brain: Increased | PMID 27496084, 1933872, 20301488; Adrenocortical carcinoma: Increased | PMID 27496084, 1933872, 20301488; Leukemia: Risk not well established | PMID 27496084, 23334668, 24706533,20301488
40
gene multi- cancer panel
APC      
Up to 100% | PMID: 18063416, 19822006, 16454848
 
<1% | PMID: 8244108
0.5-1.3% | PMID: 2571019, 28185118, 26819281
 
Duodenal: 4-12% | PMID: 28185118, 26819281; Brain/CNS: Increased | PMID: 17238184, 18612695; Thyroid: <2% | PMID: 28185118, 26819281, 24934245, 18612695; Hepatoblastoma: 1-2% | PMID: 16317745, 18612695
40
gene multi- cancer panel
AXIN2      
Increased | PMID: 21416598, 26025668,15042511, 23838596
         
40
gene multi- cancer panel
BAP1        
13% | PMID: 26096145 Uveal melanoma: 31% | PMID: 26096145
     
Renal: 10% | PMID: 26096145 22% | PMID: 26096145
40
gene multi- cancer panel
BARD1
Increased | PMID: 20077502, 21344236
               
40
gene multi- cancer panel
BMPR1A      
40-50% | PMID: 25645574, 16246179, 17303595
 
Rare, currently undefined | PMID: 2705469, 9869523
21% if multiple polyps present | PMID: 20859198
 
Small bowel: Rare, currently undefined | PMID: 9429144
40
gene multi- cancer panel
CDK4        
Increased | PMID: 23580930
       
40
gene multi- cancer panel
CDKN2A (p16INK4a)        
Increased | PMID: 10922411, 15879498, 23580930
Increased | PMID: 23580930, 22368299, 25356972
     
40
gene multi- cancer panel
CDKN2A (p14ARF)        
Increased | PMID: 10922411, 15879498, 23580930
     
40
gene multi- cancer panel
GALNT12      
Possibly increased | PMID: 22461326
         
40
gene multi- cancer panel
GREM1      
Increased | PMID: 22561515, 28242209, 26493165
         
40
gene multi- cancer panel
HOXB13              
33-60% | PMID: 26517352, 22841674, 25595936, 23457453
 
40
gene multi- cancer panel
MEN1          
>80% | PMID: 28426491, 22723327, 11739416*
7-35% gastric carcinoid | PMID: 22723327, 11739416
 
Parathyroid tumors: 98% | PMID: 22723327, 11739416; Pituitary adenomas: 35% | PMID: 22723327, 11739416; Thymic carcinoid tumors: 10% | PMID: 22723327, 11739416; Lung: 10% neuroendocrine carcinoid tumor | PMID: 22723327, 11739416
40
gene multi- cancer panel
MITF        
Increased | PMID: 22012259, 26488006, 22080950
     
Renal: Possibly increased | PMID: 22012259
40
gene multi- cancer panel
MSH3 biallelic      
Increased | PMID: 27476653
         
40
gene multi- cancer panel
MUTYH monoallelic      
Possibly increased | PMID: 24444654, 21063410, 21171015, 21061173
         
40
gene multi- cancer panel
MUTYH biallelic      
Up to 100% | PMID: 11818965, 12393807, 21063410, 23946381
         
40
gene multi- cancer panel
NTHL1 biallelic      
Increased | PMID: 25938944, 26559593, 17029639
         
40
gene multi- cancer panel
POLD1      
Increased | PMID: 26133394, 23263490, 24501277, 25370038, 28423643
         
40
gene multi- cancer panel
POLE      
Increased | PMID: 26133394, 23263490, 24501277, 25370038, 28423643
         
40
gene multi- cancer panel
RNF43      
Increased | PMID: 27329244, 24512911, 27329244
         
40
gene multi- cancer panel
RPS20      
Possibly increased | PMID: 24941021
         
40
gene multi- cancer panel
SMAD4      
40-50% | PMID: 9869523
 
Rare, currently undefined | PMID: 2705469
21% if multiple polyps present | PMID: 25645574; 25389115
 
Small bowel: Rare, currently undefined | PMID: 25645574
40
gene multi- cancer panel
VHL                
CNS Hemangioblastoma: 60-80% 20301636; Pheochromocytoma: 10-20% 20301636; Renal (Kidney): 70% 20301636; Pancreatic neuroendocrine tumor: 5-17% 20301636; Endolymphatic sac tumor: 10-16% 20301636
53
gene multi- cancer expanded panel
CTNNA1            
Diffuse: Increased (preliminary data) | PMID: 23208944, 26182300
   
53
gene multi- cancer expanded panel
DICER1  
Sex cord stromal tumors: Increased; onset in childhood | PMID: 29343557,
26033501, 24761742
           
Pleuropulmonary blastoma: Increased; onset in childhood | PMID: 29343557, 24761742; Thyroid: Increased; onset in childhood | PMID: 29343557, 24761742
53
gene multi- cancer expanded panel
KIT            
33-60% | PMID: 26517352, 22841674, 25595936, 23457453
   
53
gene multi- cancer expanded panel
MRE11
Possibly increased | PMID: 24894818, 29338689, 28418444
Possibly increased | PMID: 22006311, 28888541
             
53
gene multi- cancer expanded panel
PDGFRA            
Gastrointestinal stromal tumor (GIST): Possibly increased | PMID: 27437068
 
Gastrointestinal stromal tumor (GIST): Possibly increased | 27437068
53
gene multi- cancer expanded panel
RAD50
Possibly increased | PMID: 23586058, 21356067
               
53
gene multi- cancer expanded panel
SDHA            
Gastrointestinal stromal tumor (GIST): Increased | PMID: 20301715
 
Renal: Increased 20301715; Thyroid: Increased 20301715; Paraganglioma/Pheochromocytoma: Increased 20301715; Gastrointestinal stromal tumor (GIST): Increased 20301715
53
gene multi- cancer expanded panel
SDHB            
Gastrointestinal stromal tumor (GIST): Increased | PMID: 20301715
 
Renal: Increased 20301715; Thyroid: Increased 20301715; Paraganglioma/Pheochromocytoma: Increased 20301715; Gastrointestinal stromal tumor (GIST): Increased 20301715
53
gene multi- cancer expanded panel
SDHC            
Gastrointestinal stromal tumor (GIST): Increased | PMID: 20301715
 
Renal: Increased 20301715; Thyroid: Increased 20301715; Paraganglioma/Pheochromocytoma: Increased 20301715; Gastrointestinal stromal tumor (GIST): Increased 20301715
53
gene multi- cancer expanded panel
SDHD            
Gastrointestinal stromal tumor (GIST): Increased | PMID: 20301715
 
Renal: Increased 20301715; Thyroid: Increased 20301715; Paraganglioma/Pheochromocytoma: Increased 20301715; Gastrointestinal stromal tumor (GIST): Increased 20301715
53
gene multi- cancer expanded panel
SMARCA4  
Possibly increased | PMID: 23586058, 25886974, 27866340, 28620006
           
Rhabdoid tumors: Possibly increased (preliminary evidence) 25886974, 27866340, 20137775, 25060813
53
gene multi- cancer expanded panel
TSC1                
Renal: 2-5% 20301399; Brain/CNS: Increased 20301399; Lung: Increased in females (lymphangioleiomyomatosis) 20301399; Cardiac rhabdomyomas: Increased 20301399
53
gene multi- cancer expanded panel
TSC2                
Renal: 2-5% 20301399; Brain/CNS: Increased 20301399; Lung: Increased in females (lymphangioleiomyomatosis) 20301399; Cardiac rhabdomyomas: Increased 20301399