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Table 1 List of Genes analyzed by the Hereditary Cancer panels and their association with various cancer types and syndromes

From: Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

Genea

Transcript

Breast

Ovarian

Colorectal

Endometrial

Melanoma

Pancreatic

Gastric

Prostate

Endocrine

Other

Associated Syndrome

High Risk (***)

 APC

NM_000038.5

  

***

  

*

*

 

*

*

Familiar Adenomatus Polyposis (FAP)

 BMPR1A

NM_004329.2

  

***

   

**

  

*

Juvenile Polyposis Syndrome (JPS)

 BRCA1

NM_007294.2

***

***

   

*

 

**

 

*

Hereditary Breast and Ovarian Cancer Syndrome (HBOC)

 BRCA2

NM_000059.3

***

**

  

*

*

 

**

 

*

Hereditary Breast and Ovarian Cancer Syndrome (HBOC)

 CDH1

NM_004360.4

***

     

***

   

Hereditary Diffuse Gastric Cancer (HDGC)

 CDK4

NM_000075.3

    

***

      

 CDKN2A

NM_000077.4

    

***

*

    

Familial Atypical Multiple Mole Melanoma Syndrome,

Melanoma-Pancreatic Cancer Syndrome

 EPCAM

NM_002354.2

*

*

***

**

 

*

*

*

 

*

Lynch Syndrome (LS)

 MEN1

NM_000244.3

     

*

  

***

 

Multiple Endocrine Neoplasia Type 1

 MLH1

NM_000249.3

*

**

***

**

 

*

*

*

  

Lynch Syndrome (LS)

 MSH2

NM_000251.2

*

**

***

**

 

*

*

*

  

Lynch Syndrome (LS)

 MSH6

NM_000179.2

*

*

***

***

 

*

*

*

  

Lynch Syndrome (LS)

 MUTYH

NM_001128425.1

*

 

***

*

  

*

  

*

MUTYH-associated polyposis (MAP)

 PALB2

NM_024675.3

***

*

   

*

 

*

  

Fanconi anemia (FA-N) (recessive)

 PMS2

NM_000535.5

 

*

***

***

 

*

*

*

 

*

Lynch Syndrome (LS)

 PTEN

NM_000314.4

***

 

*

*

*

   

**

**

Cowden Syndrome (CS)

 RET

NM_020975.4

        

***

 

Multiple Endocrine Neoplasia Type 2

 SMAD4

NM_005359.5

  

***

   

**

   

Juvenile Polyposis Syndrome (JPS)

 STK11

NM_000455.4

***

*

**

*

 

**

**

   

Peutz–Jeghers Syndrome (PJS)

 TP53

NM_000546.5

***

*

**

*

*

**

**

*

  

Li–Fraumeni Syndrome (LFS)

 VHL

NM_000551.3

     

*

  

*

***

Von Hippel-Lindau Syndrome

Moderate Risk (**)

 ATM

NM_000051.3

**

    

*

 

*

  

Ataxia-Telangiectasia (recessive)

 BRIP1

NM_032043.2

*

**

     

*

  

Fanconi anemia (FA-J) (recessive)

 CHEK2

NM_007194.3

**

*

*

    

*

   

 NBN

NM_002485.4

**

      

*

  

Nijmegen Breakage Syndrome (NBS)

 RAD51C

NM_058216.2

*

**

        

Fanconi anemia (FA-O) (recessive)

 RAD51D

NM_002878.3

*

**

        

Fanconi anemia (FA) (recessive)

Low risk/insufficient data (*)

 BARD1

NM_000465.2

*

*

         

 BLM

NM_000057.2

*

 

*

       

Bloom Syndrome (BS)

 CHEK1

NM_001114121.2

*

          

 ABRAXAS1 (FAM175A)

NM_139076.2

*

          

 MRE11 (MRE11A)

NM_005591.3

*

         

Ataxia-Telangiectasia-like disorder

 NF1

NM_000267.3

*

       

*

*

Neurofibromatosis type 1

 RAD50

NM_005732.3

*

         

Nijmegen breakage syndrome-like disorder (NBSLD)

 RAD51B

NM_133509.3

*

          

 XRCC2

NM_005431.1

*

          
  1. a BRCA1, BRCA2, CDH1, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, STK11, TP53, ATM, BRIP1, CHEK2, NBN, RAD51C, RAD51D, BARD1, BLM, ABRAXAS1, MRE11, RAD50, XRCC2 were included in the first version of the HerediGENE panel (26 gene panel) whereas APC, BMPR1A, BRCA1, BRCA2, CDH1, CDK4, CDKN2A, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RET, SMAD4, STK11, TP53, VHL, ATM, BRIP1, CHEK2, NBN, RAD51C, RAD51D, BARD1, CHEK1, MRE11, NF1, RAD50, RAD51B were included in the second version of the HerediGENE panel (33 gene panel)