Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
-
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants ; volume:8 ; number:1 ; day:24 ; month:5 ; year:2024 ; pages:1-11 ; date:12.2024
npj precision oncology ; 8, Heft 1 (24.5.2024), 1-11, 12.2024
- Urheber
-
Gallon, Richard
Brekelmans, Carlijn
Martin, Marie
Bours, Vincent
Schamschula, Esther
Amberger, Albert
Muleris, Martine
Colas, Chrystelle
Dekervel, Jeroen
Hertogh, Gert De
Coupier, Jérôme
Colleye, Orphal
Sepulchre, Edith
Burn, John
Brems, Hilde
Legius, Eric
Wimmer, Katharina
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41698-024-00603-z
- URN
-
urn:nbn:de:101:1-2408051057226.031876301303
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 11:00 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Gallon, Richard
- Brekelmans, Carlijn
- Martin, Marie
- Bours, Vincent
- Schamschula, Esther
- Amberger, Albert
- Muleris, Martine
- Colas, Chrystelle
- Dekervel, Jeroen
- Hertogh, Gert De
- Coupier, Jérôme
- Colleye, Orphal
- Sepulchre, Edith
- Burn, John
- Brems, Hilde
- Legius, Eric
- Wimmer, Katharina
- SpringerLink (Online service)
Ähnliche Objekte (12)
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency
Heterogenous mismatch-repair status in colorectal cancer
Mismatch repair in recombination of bacteriophage T4
Mismatch repair deficiency in bilateral breast cancer
Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency
Mismatch repair-deficient crypt foci in Lynch syndrome : molecular alterations and association with clinical parameters
Cancers in DNA mismatch repair mutation carriers: results from a hospital based Lynch syndrome registry
DNA mismatch repair in the context of chromatin
Functional analysis of crosstalk in DNA mismatch repair
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency
Heterogenous mismatch-repair status in colorectal cancer
Mismatch repair in recombination of bacteriophage T4
Mismatch repair deficiency in bilateral breast cancer
Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency
Mismatch repair-deficient crypt foci in Lynch syndrome : molecular alterations and association with clinical parameters
Cancers in DNA mismatch repair mutation carriers: results from a hospital based Lynch syndrome registry
DNA mismatch repair in the context of chromatin
Functional analysis of crosstalk in DNA mismatch repair
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency
Heterogenous mismatch-repair status in colorectal cancer
Mismatch repair in recombination of bacteriophage T4
Mismatch repair deficiency in bilateral breast cancer
Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency
Mismatch repair-deficient crypt foci in Lynch syndrome : molecular alterations and association with clinical parameters
Cancers in DNA mismatch repair mutation carriers: results from a hospital based Lynch syndrome registry
DNA mismatch repair in the context of chromatin