Cargando…

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

BACKGROUND: Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations have a dysfunctional mismatch repair system from birth; as a result, constituti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ramchander, N. C., Ryan, N. A. J., Crosbie, E. J., Evans, D. G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381022/ https://www.ncbi.nlm.nih.gov/pubmed/28381238 http://dx.doi.org/10.1186/s12881-017-0391-x

Ejemplares similares

Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium
por: Shimamura, Y., et al.
Publicado: (2018)

Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium
por: Guerrini-Rousseau, Léa, et al.
Publicado: (2019)

Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies
por: Bin Naeem, Sameen, et al.
Publicado: (2023)

Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)
por: Briggs, Mayen, et al.
Publicado: (2022)

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review
por: Onishi, Shumpei, et al.
Publicado: (2023)

Distinct Immunological Landscapes Characterize Inherited and Sporadic Mismatch Repair Deficient Endometrial Cancer
por: Ramchander, Neal C., et al.
Publicado: (2020)

Assessment of mismatch repair deficiency in ovarian cancer
por: Crosbie, Emma J, et al.
Publicado: (2021)

PMS2 expression decrease causes severe problems in mismatch repair
por: Kasela, Mariann, et al.
Publicado: (2019)

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
por: Modi, Mitul Bipinchandra, et al.
Publicado: (2017)

Constitutional mismatch repair deficiency syndrome: Do we know it?
por: Ramachandra, C., et al.
Publicado: (2014)

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
por: Durno, Carol, et al.
Publicado: (2021)

Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies
por: Abedalthagafi, Malak
Publicado: (2018)

Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
por: Paul, Chandramallika, et al.
Publicado: (2020)

Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome
por: Abidi, Asima, et al.
Publicado: (2021)

Functional role of DNA mismatch repair gene PMS2 in prostate cancer cells
por: Fukuhara, Shinichiro, et al.
Publicado: (2015)

Handcuffing intrinsically disordered regions in Mlh1–Pms1 disrupts mismatch repair
por: Furman, Christopher M, et al.
Publicado: (2021)

PMS2 variant results in loss of ATPase activity without compromising mismatch repair
por: D'Arcy, Brandon M., et al.
Publicado: (2022)

Unexplained mismatch repair deficiency: Case closed
por: Eikenboom, Ellis L., et al.
Publicado: (2022)

CMMRD caused by PMS1 mutation in a sudanese consanguineous family
por: Hamad, Reem S., et al.
Publicado: (2022)

Mismatch repair deficiency in ovarian cancer
por: Fuh, Katherine
Publicado: (2022)

Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan
por: Sugano, Kokichi, et al.
Publicado: (2016)

Histological and Somatic Mutational Profiles of Mismatch Repair Deficient Endometrial Tumours of Different Aetiologies
por: Ryan, Neil A. J., et al.
Publicado: (2021)

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome
por: Polubothu, S., et al.
Publicado: (2017)

A rare case of Crohn’s ileitis in a patient with constitutional mismatch repair deficiency
por: Kaimakliotis, Pavlos, et al.
Publicado: (2017)

Activation of Saccharomyces cerevisiae Mlh1-Pms1 Endonuclease in a Reconstituted Mismatch Repair System
por: Smith, Catherine E., et al.
Publicado: (2015)

The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta‐analysis
por: Atwal, Amit, et al.
Publicado: (2022)

RARE-14. DEVELOPMENT OF ANAPLASTIC ASTROCYTOMA AS A THIRD MALIGNANCY IN A PEDIATRIC PATIENT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY (CMMRD): A CASE REPORT AND EVALUATION OF TUMOR GENOMICS IDENTIFYING BIALLELIC MSH6 MUTATIONS
por: Wright, Erin, et al.
Publicado: (2020)

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
por: Tesch, Victoria K., et al.
Publicado: (2018)

High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort
por: Kroeze, Emma, et al.
Publicado: (2021)

Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function
por: Reyes, Gloria X., et al.
Publicado: (2020)

Biallelic Mismatch Repair Deficiency in an Adolescent Female
por: Hildreth, Amber, et al.
Publicado: (2018)

Genetic Characteristics of Mismatch Repair-deficient Glioblastoma
por: KAWAGUCHI, Kei, et al.
Publicado: (2021)

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency
por: Lindsay, Holly, et al.
Publicado: (2019)

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals
por: Carrato, Cristina, et al.
Publicado: (2021)

Minisatellite instability is found in colorectal tumours with mismatch repair deficiency
por: Coleman, M G, et al.
Publicado: (2001)

Mismatch repair deficiency is not sufficient to elicit tumor immunogenicity
por: Westcott, Peter M. K., et al.
Publicado: (2023)

Dominant Mutations in S. cerevisiae PMS1 Identify the Mlh1-Pms1 Endonuclease Active Site and an Exonuclease 1-Independent Mismatch Repair Pathway
por: Smith, Catherine E., et al.
Publicado: (2013)

Expression of the DNA mismatch repair proteins hMLH1 and hPMS2 in normal human tissues.
por: Fink, D., et al.
Publicado: (1997)

Clinicopathologic features of endometrial cancer with mismatch repair deficiency
por: Gordhandas, Sushmita, et al.
Publicado: (2020)

A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency
por: Rengifo-Cam, William, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_86amhdet0uar1mua2f8mvuuu85