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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)