Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

Nonpolypoid colorectal neoplasms: a challenge in endoscopic surveillance of patients with Lynch syndrome

(2013) E. Rondagh et al.   ENDOSCOPY

Chemotherapy of MMR-deficient colorectal cancer

(2013) N. Devaud et al.   Familial Cancer

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

(2013) Hans F A Vasen et al.   GUT

Quality colonoscopy and risk of interval cancer in Lynch syndrome

(2013) J. F. Haanstra et al.   INTERNATIONAL JOURNAL OF COLORECTAL DISEASE

Simultaneous Colonic Adenocarcinoma and Medulloblastoma in a 12-Year-Old with Biallelic Deletions in PMS2

(2013) Holly Lindsay et al.   JOURNAL OF PEDIATRICS

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency

(2012) P. Vasovcak et al.   DNA REPAIR

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

(2012) Annette F Baas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Delays in diagnosis of paediatric cancers: a systematic review and comparison with expert testimony in lawsuits

(2012) Jean-François Brasme et al.   LANCET ONCOLOGY

Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1

(2012) Jacky T. Yeung et al.   PEDIATRIC BLOOD & CANCER

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations

(2011) PC Johannesma et al.   CLINICAL GENETICS

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines

(2011) Johanna C. Herkert et al.   EUROPEAN JOURNAL OF CANCER

Glioblastoma in Children: A Single-Institution Experience

(2011) Stephanie M. Perkins et al.   INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis

(2011) Coralie Dorard et al.   NATURE MEDICINE

Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred

(2011) Carol A. Durno et al.   PEDIATRIC BLOOD & CANCER

High-grade brain tumors in siblings with biallelic MSH6 mutations

(2011) Denisa Ilencikova et al.   PEDIATRIC BLOOD & CANCER

The Gastrointestinal Phenotype of Germline Biallelic Mismatch Repair Gene Mutations

(2010) Carol A Durno et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Chemotherapy of advanced small-bowel adenocarcinoma: a multicenter AGEO study

(2010) A. Zaanan et al.   ANNALS OF ONCOLOGY

Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome

(2010) J.-C. Saurin et al.   ENDOSCOPY

Defective Mismatch Repair As a Predictive Marker for Lack of Efficacy of Fluorouracil-Based Adjuvant Therapy in Colon Cancer

(2010) Daniel J. Sargent et al.   JOURNAL OF CLINICAL ONCOLOGY

Long-term outcomes in children with glioblastoma

(2010) Kyung Sun Song et al.   Journal of Neurosurgery-Pediatrics

Azathioprine-Induced Carcinogenesis in Mice According to Msh2 Genotype

(2010) Alexandra Chalastanis et al.   JNCI-Journal of the National Cancer Institute

Methotrexate induces oxidative DNA damage and is selectively lethal to tumour cells with defects in the DNA mismatch repair geneMSH2

(2009) Sarah A. Martin et al.   EMBO Molecular Medicine

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma - report on a novel biallelic MSH6 mutation

(2009) T. Ripperger et al.   HAEMATOLOGICA

The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasms

(2009) Claire Borie et al.   INTERNATIONAL JOURNAL OF CANCER

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

(2009) C P Kratz et al.   JOURNAL OF MEDICAL GENETICS

Biallelic PMS2 Mutations and a Distinctive Childhood Cancer Syndrome

(2009) Tiong Yang Tan et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Compound Heterozygosity for MSH6 Mutations in a Pediatric Lymphoma Patient

(2009) Antoinette Peters et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

The effect of DNA mismatch repair (MMR) status on oxaliplatin-based first-line chemotherapy as in recurrent or metastatic colon cancer

(2009) Seung Tae Kim et al.   MEDICAL ONCOLOGY

Compound heterozygosity for twoMSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus

(2008) Nils Rahner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Preferential loss of mismatch repair function in refractory and relapsed acute myeloid leukemia: potential contribution to AML progression

(2008) Guogen Mao et al.   CELL RESEARCH

Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

(2008) Helen Toledano et al.   Familial Cancer

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

(2008) Wenche Sjursen et al.   Familial Cancer

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

(2008) Katharina Wimmer et al.   HUMAN GENETICS

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) genePMS2

(2008) Carl-Christian Jackson et al.   PEDIATRIC BLOOD & CANCER

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

(2007) J. Etzler et al.   HUMAN MUTATION

Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation

(2007) Sridharan Gururangan et al.   NEURO-ONCOLOGY