Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.

A missed opportunity for preventing CMMRD: is it time to include Lynch syndrome genes in prenatal genetic testing?

Cancer Predisposition Syndromes With Involvement of the Head and Neck Regions in Children: An Imaging Guide.

Mismatch Repair Cancer Syndrome presenting as synchronous high-grade glioma and diffuse large B cell lymphoma in a pediatric patient.

Utility of Whole-Body Magnetic Resonance Imaging Surveillance in Children and Adults With Cancer Predisposition Syndromes: A Retrospective Study.

[Advances in constitutional mismatch repair deficiency syndrome associated tumors].

This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency.

Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort.

Long-term survivors in 976 supratentorial glioblastoma, IDH-wildtype patients.

Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.

Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome.

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.

Organoids and metastatic orthotopic mouse model for mismatch repair-deficient colorectal cancer.

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.

Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies.

Constitutional Mismatch Repair Deficiency Syndrome as a Cause of Numerous Malignancies in a Teenage Patient-A Case Report.

Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome.

Unexpected moves: a conformational change in MutSα enables high-affinity DNA mismatch binding.

Clinical and molecular features of pediatric cancer patients with Lynch syndrome.

A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review.

Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.

[Pediatric Hemispheric Glioma].

Presentation of Acute Lymphoblastic Lymphoma and Colorectal Carcinoma in the Context of Constitutional Mismatch Repair Deficiency Syndrome: A Case Report with Literature Review.

Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature.

Could the immune checkpoint inhibitor against colorectal cancer in constitutional mismatch repair deficiency syndrome prevent new cancer formation?

Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome.

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.

Constitutional Mismatch Repair Deficiency Syndrome in a patient from India.

Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.

Molecular Profiling of Pediatric and Adult Glioblastoma.

Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series.

Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome-A case report.

Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings.

Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.

[Hereditary predisposition to tumors of the central and peripheral nervous systems].

Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T).

Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome.

Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome.

B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency.

Effective Immunotherapy of Glioblastoma in an Adolescent with Constitutional Mismatch Repair-Deficiency Syndrome.

Mutational landscape of T-cell lymphoma in mice lacking the DNA mismatch repair gene Mlh1: no synergism with ionizing radiation.

Updates on progress in cancer screening for children with hereditary cancer predisposition syndromes.

Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.

Current clinical topics of Lynch syndrome.

The changing landscape of Lynch syndrome due to PMS2 mutations.

Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome.

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.

Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature.

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.

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

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.

Microsatellite Instability Pathway and EMAST in Colorectal Cancer.

Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.

Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.

HEREDITARY, SPORADIC AND METASTATIC COLORECTAL CANCER ARE COMMONLY DRIVEN BY SPECIFIC SPECTRUMS OF DEFECTIVE DNA MISMATCH REPAIR COMPONENTS.

Invasive High-grade Upper Tract Urothelial Carcinoma in a 14-Year-Old Girl.

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.

Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

Successful matched sibling cord blood transplant for ALL in a child with constitutional mismatch repair deficiency syndrome.

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.

Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.

Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels.

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.

[Constitutional mismatch repair deficiency syndrome].

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.