Archives

  • 2019-07
  • 2019-08
  • 2019-09
  • 2019-10
  • 2019-11
  • 2020-03
  • 2020-07
  • 2020-08
  • 2021-03
  • br FANCB TSG Fanconi Anemia NI NI NI br

    2019-10-01


    FANCB (TSG) Fanconi Anemia NI NI NI
    NI NI
    FANCI (TSG) Fanconi Anemia NI NI NI 2 11
    FAS (UND) Autoimmune Lymphoproliferative Syndrome (predisposition to lymphoma) 2 (Both ATTAAA) 2 (Both TA) 13–18 3 5
    FASLG (UND) Autoimmune Lymphoproliferative Syndrome 1 (AATAAA) 1 (AA) 20 4 1
    FH (TSG) Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome NI NI NI 1 5
    (continued on next page)  I.A. Vieira, et al.
    Gene (ONC, TSG or Syndrome/tumor predisposition NCBI database (constitutive PAS and CS sequences)a
    Alternative polyadenylation (number of
    UND)
    poly(A) sites)
    Number Iberiotoxin PAS and sequence Number of CS and sequence Distance between the
    APADBc APASdbd
    FLCN (TSG) Birt-Hogg-Dube Syndrome (predisposition to cutaneous hamartomas and 1 (AATAAA) 1 (AA) 15 3 3
    NI NI
    Simpson-Golabi-Behmel Syndrome (predisposition to embryonal tumors)
    GREM1 (ONC) Juvenile Polyposis Syndrome and Hereditary Mixed Polyposis Syndrome 1 (AATAAA) 1 (TG) 19
    HRAS (ONC) (colorectal cancer) NI 1 (GA) NI 1 1
    Costello and Noonan Syndromes (predisposition to various tumor types)
    IL2RG (UND) X-Linked Severe Combined Immunodeficiency (predisposition to lymphoma) 1 (AATAAA) 1 (AA) 23 1 NI
    KIT (ONC) Familial Gastrointestinal Stromal Tumors 1 (AATAAA) 1 (AA) 18 1 3
    KRAS (ONC) Cardiofaciocutaneous, Costello and Noonan Syndromes (predisposition to NI NI NI 6 17
    DNA Ligase IV Syndrome (predisposition to leukemia and lymphoma)
    MAP2K1 (ONC) Cardiofaciocutaneous and Noonan Syndromes 1 (AATAAA) 1 (AT) 12 1 4
    MAP2K2 (ONC) Cardiofaciocutaneous and Noonan Syndromes NI 1 (AA) NI 3 3
    MAX (TSG) Hereditary Pheochromocytoma and Paraganglioma 1 (AATAAA) 2 (Both TT) 18e 12 18
    MDM2 (ONC) Related to Li-Fraumeni Syndrome (genetic modifiers; further information in 1 (AATAAA) 1 (CA) 14 7 26
    MEN1 (TSG) Multiple Endocrine Neoplasia Type 1 NI 1 (TA) NI
    MET (ONC) Hereditary Papillary Renal Cell Carcinoma 1 (ATTAAA) 1 (TA) 22 1 1
    MITF (ONC) Predisposition to malignant melanoma and renal cell carcinoma 1 (ATTAAA) 2 (CA Iberiotoxin and TA) 14–18 1 18
    MSH2 (TSG) Lynch Syndrome overlapping PAS 1 (GA) 22 1 15
    MUTYH (TSG) Familial Adenomatous Polyposis 2 (Polyposis associated with MUTYH) NI 1 (TA) NI 1 2
    NBN (TSG) Nijmegen Breakage Syndrome (predisposition to leukemia, lymphoma and 2 (ATTAAA and AATAAA) 3 (All CS are AA) 17–36 3 17
    Neurofibromatosis type 1 (predisposition to neurofibrosarcomas, optic
    NF2 (TSG) gliomas, meningiomas and other malignant tumors) 1 (AATAAA) 1 (TA) 18 2 8
    Neurofibromatosis type 2 (predisposition to vestibular schwannomas,
    Beckwith-Wiedemann Syndrome
    PALB2 (TSG) Fanconi Anemia; predisposition to breast and pancreas cancer 1 (AATAAA) 1 (TC) 18 1 2
    PALLD (ONC) Familial Pancreatic Adenocarcinoma 2 (Both AATAAA) 2 (AA and TA) 11–13 1 46
    POLB (UND) Alternative DNA polymerase; overexpression in certain solid tumors 1 (AATAAA) 1 (GA) 20 1 3
    POLD1 (UND) Alternative DNA polymerase; Polymerase Proofreading-associated polyposis; 1 (AATAAA) 1 (TG) 20 1 3
    POLE (UND) predisposition to colorectal, breast and endometrial cancer NI 1 (TC) NI 1 4
    Alternative DNA polymerase; Polymerase Proofreading-associated polyposis;
    POLH (UND) predisposition to colorectal, pancreas, ovarian and small intestine cancer 2 (Both AATAAA) 2 (CA and TA) 19–20 4 1
    Translesion DNA Polymerase; Xeroderma pigmentosum Variant Type
    POLK (UND) (predisposition to skin cancer) NI NI NI 2 16
    Translesion DNA Polymerase; overexpression in rectum and lung tumors
    POLQ (UND) Translesion DNA Polymerase; overexpression in certain solid tumors