Turcot Syndrome Type 2

MedGen UID:: 311385
•Concept ID:: C1519703
•: Neoplastic Process

Definition

An autosomal dominant hereditary neoplastic syndrome caused by mutations in the APC gene. It is characterized by the presence of medulloblastoma and familiar adenomatous polyposis. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTurcot Syndrome Type 2

Pathological process
- Disease
  - Hereditary disease
    - Hereditary cancer-predisposing syndrome
      - Constitutional mismatch repair deficiency syndrome
        Turcot syndrome
        Turcot Syndrome Type 2

Professional guidelines

PubMed

Efficacy of PD-1 Inhibitor Combined with Bevacizumab in Treatment of Advanced Endometrial Cancer Patients with Mismatch Repair Deficiency (dMMR)/High-Level Microsatellite Instability (MSI-H).

Liao Y, Zhu C, Song X, Ruan J, Ding Y, Chen Y, Yang Q
Med Sci Monit 2022 Mar 24;28:e934493. doi: 10.12659/MSM.934493. PMID: 35322001 Free PMC Article

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Kehrer-Sawatzki H, Cooper DN
Hum Genet 2022 Feb;141(2):177-191. Epub 2021 Dec 20 doi: 10.1007/s00439-021-02410-z. PMID: 34928431 Free PMC Article

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.

Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K
J Med Genet 2019 Feb;56(2):53-62. Epub 2018 Nov 10 doi: 10.1136/jmedgenet-2018-105664. PMID: 30415209

See all (3)