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CHEK2

Analyte Export to PDF
Name:
checkpoint kinase 2
Symbol:
CHEK2
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
CDS1
CHK2
HuCds1
PP1425
bA444G7
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Extended Breast Cancer Panel (26 gene) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATM 100.00 1 No comment
    BARD1 100.00 1 No comment
    BLM 100.00 1 No comment
    BRCA1 100.00 1 No comment
    BRCA2 100.00 1 No comment
    BRIP1 100.00 1 No comment
    CDH1 100.00 1 No comment
    CHEK2 100.00 1 No comment
    EPCAM 100.00 1 No comment
    ABRAXAS1 100.00 1 No comment
    MEN1 100.00 1 No comment
    MLH1 100.00 1 No comment
    MRE11 100.00 1 No comment
    MSH2 100.00 1 No comment
    MSH6 100.00 1 No comment
    MUTYH 100.00 1 No comment
    NBN 100.00 1 No comment
    PALB2 100.00 1 No comment
    PMS2 100.00 1 No comment
    PTEN 100.00 1 No comment
    RAD50 100.00 1 No comment
    RAD51C 100.00 1 No comment
    RAD51D 100.00 1 No comment
    STK11 100.00 1 No comment
    TP53 100.00 1 No comment
    XRCC2 100.00 1 No comment
  • Breast and ovarian cancer - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATM 100.00 1
    BARD1 100.00 1
    BRCA1 100.00 1
    BRCA2 100.00 1
    BRIP1 100.00 1
    CHEK2 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PALB2 100.00 1
    RAD51C 100.00 1
    RAD51D 100.00 1
    TP53 100.00 1
  • Breast cancer, hereditary (13 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1 CNV assessed by MLPA
    BRCA2 100.00 1 CNV assessed by MLPA
    TP53 100.00 1 CNV assessed by MLPA (on demand)
    PALB2 100.00 0
    CHEK2 100.00 0
    BARD1 100.00 0
    ATM 100.00 0
    MLH1 100.00 1 CNV assessed by MLPA (on demand)
    MSH2 100.00 1 CNV assessed by MLPA (on demand)
    MSH6 100.00 1 CNV assessed by MLPA (on demand)
    BRIP1 100.00 0
    RAD51C 100.00 0
    RAD51D 100.00 0
  • Breast/ ovarian cancer (12 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1
    BRCA2
    PALB2
    TP53
    CHEK2
    ATM
    BRIP1
    RAD51C
    RAD51D
    MLH1
    MSH2
    MSH6
  • Breast/ ovarian cancer (15 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    RAD51C 100.00 1
    RAD51D 100.00 1
    BRCA1 100.00 1
    BRCA2 100.00 1
    TP53 100.00 1
    CHEK2 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    BRIP1 100.00 1
    ATM 100.00 1
    PALB2 100.00 1
    CDH1 100.00 1
    BARD1 100.00 1
    PTEN 100.00 1
  • Breast/Ovarian cancer (17 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1 Core gene
    BRCA2 100.00 1 Core gene
    TP53 100.00 1 Core gene
    PALB2 100.00 1 Core gene
    CHEK2 100.00 1 Core gene for c.1100delC
    ATM 100.00 1
    BARD1 100.00 1
    BRIP1 100.00 1
    CDH1 100.00 1
    EPCAM 100.00 1
    ABRAXAS1 100.00 1
    MLH1 100.00 1
    MRE11 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    MUTYH 100.00 1
    NBN 100.00 1
    PIK3CA 100.00 1
    PMS2 100.00 1
    PMS2CL 100.00 1
    PTEN 100.00 1
    RAD50 100.00 1
    RAD51C 100.00 1
    RAD51D 100.00 1
    STK11 100.00 1
    XRCC2 100.00 1
  • Breast/ovarian cancer (12 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1
    BRCA2
    TP53
    PALB2
    CHEK2
    ATM
    BRIP1
    RAD51C
    RAD51D
    MLH1
    MSH2
    MSH6
  • Cancer (Breast, ovary, colon,…) (26 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABRAXAS1
    ATM
    BARD1
    BRCA1
    BRCA2
    BLM
    BRIP1
    CDH1
    CHEK2
    EPCAM
    MEN1
    MLH1
    MRE11
    MSH2
    MSH6
    MUTYH
    NBN
    PALB2
    PMS2
    PTEN
    RAD50
    RAD51C
    RAD51D
    STK11
    TP53
    XRCC2
  • Colorectal cancer/polyposis (18 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PMS2 100.00 1
    EPCAM 100.00 1
    POLD1 100.00 1
    POLE 100.00 1
    CHEK2 100.00 1
    TP53 100.00 1
    APC 100.00 1
    STK11 100.00 1
    BMPR1A 100.00 1
    SMAD4 100.00 1
    PTEN 100.00 1
    RNF43 100.00 1
    NTHL1 100.00 1
    MSH3 100.00 1
    MUTYH 100.00 1
  • Hematologic Familiar Forms - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    RPS7 88.11 0 No
    CHEK2 80.48 0 No
    PTPN11 95.76 0 No
    KRAS 96.88 0 No
    RPS10 98.48 0 No
    FANCM 97.86 0 No
    RPL35A 98.16 0 No
    RPS24 98.39 0 No
    ANKRD26 100.00 0 Genomic start 27389256 to genomic end 27389427 UTR position
    RPL5 96.83 0 No
    SHQ1 97.53 0 No
    RPS26 98.64 0 No
    SRP72 97.98 0 No
    FANCL 98.99 0 No
    EGLN1 98.71 0 No
    JAK2 97.81 0 No
    DNAJC21 98.55 0 No
    NF1 96.15 0 No
    BLM 98.77 0 No
    SBF2 99.19 0 No
    MSH2 98.36 0 No
    ATM 98.90 0 No
    ERCC4 98.33 0 No
    RPL11 99.02 0 No
    NBN 99.57 0 No
    PMS2 98.87 0 No
    ATG2B 99.33 0 No
    BRCA2 99.11 0 No
    ERCC6L2 99.48 0 No
    ATR 99.19 0 No
    VPS45 99.60 0 No
    SRP54 99.44 0 No
    SBDS 96.51 0 No
    UBE2T 98.01 0 No
    RBM8A 99.34 0 No
    RAD51C 99.83 0 No
    FANCC 99.72 0 No
    FANCD2 99.00 0 No
    BRIP1 99.61 0 No
    BRCA1 99.80 0 No
    CEBPA 99.48 0 No
    PARN 99.84 0 No
    MSH6 99.84 0 No
    MECOM 99.83 0 No
    PALB2 99.80 0 No
    FANCE 97.83 0 No
    PAX5 99.72 0 No
    RAD51 99.94 0 No
    ATRX 99.85 0 No
    FANCB 99.61 0 No
    FANCI 99.66 0 No
    STN1 99.75 0 No
    NHP2 99.79 0 No
    MLH1 99.86 0 No
    TERT 100.00 0 Genomic start 1295105 to genomic end 1295162 UTR position
    XRCC2 99.97 0 No
    FANCA 99.93 0 No
    EPAS1 99.62 0 No
    TET2 99.97 0 No
    HAX1 99.98 0 No
    SLX4 99.98 0 No
    CBL 99.87 0 No
    WAS 99.90 0 No
    USB1 100.00 0 No
    EPO 99.99 0 No
    VHL 99.98 0 No
    MAD2L2 100.00 0 No
    RUNX1 99.94 0 No
    CTC1 99.99 0 No
    GSKIP 99.99 0 No
    DKC1 100.00 0 Genomic start 153991031 to genomic end 153991240 UTR position
    SAMD9L 99.96 0 No
    MPL 99.99 0 No
    ETV6 100.00 0 No
    LIG4 99.98 0 No
    NOP10 99.99 0 No
    G6PC3 100.00 0 No
    CSF3R 100.00 0 No
    SAMD9 100.00 0 No
    ELANE 100.00 0 No
    GATA2 100.00 0 No
    RPS19 100.00 0 No
    GFI1 100.00 0 No
    FANCF 100.00 0 No
    TPP1 99.99 0 No
    FANCG 100.00 0 No
    WRAP53 100.00 0 No
    TP53 100.00 0 No
    TINF2 100.00 0 No
    EPOR 100.00 0 No
    DDX41 100.00 0 No
    THPO 100.00 0 No
    TERC 100.00 0 Genomic start 169482849 to genomic end 169483098 UTR position
    RTEL1 100.00 0 Genomic start 62326911 to genomic end 62326911 and genomic start 62326900 to genomic end 62326928 and genomic start 62326958 to genomic end 62326986 intronic positions and 99.98 for CDS
  • Hereditary Cancer Solution (35 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 ISO15189
    ATM 100.00 1 ISO15189
    BAP1 100.00 1 ISO15189
    BARD1 100.00 1 ISO15189
    BMPR1A 100.00 1 ISO15189
    BRCA1 100.00 1 ISO15189
    BRCA2 100.00 1 ISO15189
    BRIP1 100.00 1 ISO15189
    CDH1 100.00 1 ISO15189
    CDKN2A 100.00 1 ISO15189
    CHEK2 100.00 1 ISO15189
    EPCAM 100.00 1 ISO15189
    GREM1 100.00 1 ISO15189
    MLH1 100.00 1 ISO15189
    MRE11 100.00 1 ISO15189
    MSH2 100.00 1 ISO15189
    MSH3 100.00 1 ISO15189
    MSH6 100.00 1 ISO15189
    MUTYH 100.00 1 ISO15189
    NBN 100.00 1 ISO15189
    NTHL1 100.00 1 ISO15189
    PALB2 100.00 1 ISO15189
    PIK3CA 100.00 1 ISO15189
    PMS2 100.00 1 ISO15189
    POLD1 100.00 1 ISO15189
    POLE 100.00 1 ISO15189
    PTEN 100.00 1 ISO15189
    RAD50 100.00 1 ISO15189
    RAD51C 100.00 1 ISO15189
    RAD51D 100.00 1 ISO15189
    SCG5 100.00 1 ISO15189
    SMAD4 100.00 1 ISO15189
    STK11 100.00 1 ISO15189
    TP53 100.00 1 ISO15189
    XRCC2 100.00 1 ISO15189
  • Hereditary breast and ovarian cancer (26 genes) - CHULg
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATM 100.00 -2
    BARD1 100.00 -2
    BLM 100.00 -2
    BRCA1 100.00 -2
    BRCA2 100.00 -2
    BRIP1 100.00 -2
    CDH1 100.00 -2
    CHEK2 100.00 -2
    EPCAM 100.00 -2
    ABRAXAS1 100.00 -2
    MEN1 100.00 -2
    MLH1 100.00 -2
    MRE11 100.00 -2
    MSH2 100.00 -2
    MSH6 100.00 -2
    MUTYH 100.00 -2
    NBN 100.00 -2
    PALB2 100.00 -2
    PMS2 100.00 -2
    PTEN 100.00 -2
    RAD50 100.00 -2
    RAD51C 100.00 -2
    RAD51D 100.00 -2
    STK11 100.00 -2
    TP53 100.00 -2
    XRCC2 100.00 -2
  • Hereditary cancer predisposition - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABRAXAS1 100.00 0
    ACD 100.00 0
    AIP 100.00 0
    AMER1 100.00 0
    APC 100.00 0
    ATM 100.00 0
    AXIN2 100.00 0
    BAP1 100.00 0
    BARD1 100.00 0
    BLM 100.00 0
    BMPR1A 100.00 0
    BRCA1 100.00 0
    BRCA2 100.00 0
    BRIP1 100.00 0
    BUB1B 100.00 0
    BUB3 100.00 0
    CDH1 100.00 0
    CDK12 100.00 0
    CDK4 100.00 0
    CDKN1B 100.00 0
    CDKN2A 100.00 0
    CHEK1 100.00 0
    CHEK2 100.00 0
    CTNNA1 100.00 0
    CTNNB1 100.00 0
    DICER1 100.00 0
    EDN3 100.00 0
    EDNRB 100.00 0
    EPCAM 100.00 0
    ERCC4 100.00 0
    FANCA 100.00 0
    FANCB 100.00 0
    FANCC 100.00 0
    FANCD2 100.00 0
    FANCE 100.00 0
    FANCF 100.00 0
    FANCG 100.00 0
    FANCI 100.00 0
    FANCL 100.00 0
    FANCM 100.00 0
    FH 100.00 0
    FLCN 100.00 0
    GDNF 100.00 0
    GREM1 100.00 0
    HNF1B 100.00 0
    HOXB13 100.00 0
    MAD2L2 100.00 0
    MAX 100.00 0
    MEN1 100.00 0
    MET 100.00 0
    MITF 100.00 0
    MLH1 100.00 0
    MRE11 100.00 0
    MSH2 100.00 0
    MSH3 100.00 0
    MSH6 100.00 0
    MUTYH 100.00 0
    NBN 100.00 0
    NRG3 100.00 0
    NRTN 100.00 0
    NTHL1 100.00 0
    PALB2 100.00 0
    PALLD 100.00 0
    PBRM1 100.00 0
    PMS2 100.00 0
    POLD1 100.00 0
    POLE 100.00 0
    POT1 100.00 0
    PPP2R2A 100.00 0
    PTEN 100.00 0
    RABL3 100.00 0
    RAD50 100.00 0
    RAD51 100.00 0
    RAD51B 100.00 0
    RAD51C 100.00 0
    RAD51D 100.00 0
    RAD54L 100.00 0
    RECQL 100.00 0
    RET 100.00 0
    RFWD3 100.00 0
    RNF43 100.00 0
    SDHA 100.00 0
    SDHAF2 100.00 0
    SDHB 100.00 0
    SDHC 100.00 0
    SDHD 100.00 0
    SEMA3C 100.00 0
    SEMA3D 100.00 0
    SLX4 100.00 0
    SMAD4 100.00 0
    SMARCA4 100.00 0
    SOX10 100.00 0
    SPINK1 100.00 0
    STK11 100.00 0
    SUCLG2 100.00 0
    TERF2IP 100.00 0
    TERT 100.00 0
    TMEM127 100.00 0
    TP53 100.00 0
    TSC1 100.00 0
    TSC2 100.00 0
    UBE2T 100.00 0
    VHL 100.00 0
    WT1 100.00 0
    XRCC2 100.00 0
    MBD4 100.00 0
    NRG1 100.00 0
  • Hereditary predisposition to cancer (47 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 NM_000038.6
    ATM 100.00 1 NM_000051.3
    BAP1 100.00 1 NM_004656.4
    BARD1 100.00 1 NM_000465.4
    BMPR1A 100.00 1 NM_004329.3
    BRCA1 100.00 1 NM_007294.4
    BRCA2 100.00 1 NM_000059.3
    BRIP1 100.00 1 NM_032043.3
    CDH1 100.00 1 NM_004360.5
    CDKN1B 100.00 1 NM_004064.4
    CDKN2A 100.00 1 NM_001195132.1
    CHEK2 100.00 1 NM_007194.4
    EPCAM 100.00 1 NM_002354.3
    GATA2 100.00 1 NM_032638.5
    GREM1 100.00 1 NM_013372.7
    MEN1 100.00 1 NM_001370259.2
    MLH1 100.00 1 NM_000249.4
    MSH2 100.00 1 NM_000251.3
    MSH3 100.00 1 NM_002439.5
    MSH6 100.00 1 NM_000179.3
    MUTYH 100.00 1 NM_001128425.2
    NBN 100.00 1 NM_002485.5
    NTHL1 100.00 1 NM_002528.7
    PALB2 100.00 1 NM_024675.4
    PIK3CA 100.00 1 NM_006218.4
    PMS2 100.00 1 NM_000535.7
    POLD1 100.00 1 NM_002691.4
    POLE 100.00 1 NM_006231.4
    PTEN 100.00 1 NM_000314.8
    RAD50 100.00 1 NM_005732.4
    RAD51C 100.00 1 NM_058216.3
    RAD51D 100.00 1 NM_002878.3
    RPS20 100.00 1 NM_001146227.2
    SCG5 100.00 1 NM_001144757.2
    SMAD4 100.00 1 NM_005359.6
    STK11 100.00 1 NM_000455.5
    TP53 100.00 1 NM_000546.5
    WWP1 100.00 1 NM_007013.4
    AXIN2 100.00 1 NM_004655.4
    CDK4 100.00 1 NM_000075.4
    DICER1 100.00 1 NM_030621.4
    HOXB13 100.00 1 NM_006361.6
    NF1 100.00 1 NM_001042492.3
    POT1 100.00 1 NM_015450.3
    PTCH1 100.00 1 NM_000264.5
    RB1 100.00 1 NM_000321.2
    RET 100.00 1 NM_020975.6
  • Prostate Cancer (3 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1
    BRCA2
    CHEK2
  • Prostate cancer (7 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1
    BRCA2 100.00 1
    CHEK2 100.00 1
    ATM 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
  • Prostate cancer - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1
    BRCA2 100.00 1
    HOXB13 100.00 0
    CHEK2 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    ATM 100.00 1
  • Prostate cancer susceptibility (7 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1 Core gene
    BRCA2 100.00 1 Core gene
    ATM 100.00 1
    CHEK2 100.00 1
    HOXB13 100.00 1
    PALB2 100.00 1
    PTEN 100.00 1