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Familial pancreatic carcinoma

Disease Export to PDF
Name:
Familial pancreatic carcinoma
Description:
Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.
ORPHAcode:
1333
Synonyms:
Familial pancreatic cancer
XREF(s):
Orphanet
OMIM
MeSH
ICD-10
OMIM
OMIM
OMIM
OMIM
Analyte(s):
BRCA1
BRCA2
CDKN2A
SMAD4
TP53
KRAS
PALB2
PALLD
RABL3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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
  • Familial pancreatic cancer
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1
    BRCA2
    ATM
    PALB2
    STK11
    CDKN2A
    RABL3
    MLH1
    MSH2
    MSH6
    PMS2
  • Familial pancreatic cancer
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATM 100.00 1
    BRCA1 100.00 1
    BRCA2 100.00 1
    CDKN2A 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PALB2 100.00 1
    PMS2 100.00 1
    RABL3 100.00 0
    STK11 100.00 1
    TP53 100.00 1
  • 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 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
  • Pancreas cancer (12 genes-) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1
    BRCA2 100.00 1
    ATM 100.00 1
    CDK4 100.00 1
    CDKN2A 100.00 1
    EPCAM 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PALB2 100.00 1
    STK11 100.00 1
    TP53 100.00 1
  • Pancreatic Cancer (9 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CDKN2A 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    BRCA1 100.00 1
    BRCA2 100.00 1
    PALB2 100.00 1
    TP53 100.00 1
    STK11 100.00 1