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American Journal of Gastroenterology, ISSN 0002-9270, 02/2016, Volume 111, Issue 2, pp. 275 - 284
OBJECTIVES: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features... 
TURCOT-SYNDROME | GENE-MUTATIONS | BRAIN-TUMOR | LYNCH-SYNDROME | COLORECTAL-CANCER | GERMLINE MUTATIONS | EARLY-ONSET | MSH6 MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | PMS2 MUTATIONS | CHILDHOOD | Colorectal Neoplasms - surgery | Melanoma - etiology | MutL Protein Homolog 1 | Adenoma - surgery | Prospective Studies | Brain Neoplasms - etiology | Adenoma - genetics | Glioma - etiology | Adenocarcinoma - etiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - physiopathology | DNA Repair Enzymes - genetics | Child, Preschool | Male | Brain Neoplasms - complications | Young Adult | Colorectal Neoplasms - etiology | Leukemia - etiology | Kidney Neoplasms - etiology | Germ-Line Mutation | Adult | Female | Adenocarcinoma - genetics | Mismatch Repair Endonuclease PMS2 | Neoplastic Syndromes, Hereditary - genetics | Retrospective Studies | Nuclear Proteins - genetics | Child | Intestinal Neoplasms - genetics | Intestinal Neoplasms - surgery | Brain Neoplasms - genetics | Adenoma - etiology | Intestinal Neoplasms - etiology | DNA-Binding Proteins - genetics | Colorectal Neoplasms - physiopathology | Phenotype | Intestine, Small - surgery | Lymphoma - etiology | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Alleles | Neoplastic Syndromes, Hereditary - complications | Wilms Tumor - etiology | Neoplastic Syndromes, Hereditary - physiopathology | Adenosine Triphosphatases - genetics | Colorectal Neoplasms - complications | Adenocarcinoma - surgery
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2013, Volume 110, Issue 44, pp. 17933 - 17938
Journal Article
Neuro-Oncology, ISSN 1522-8517, 11/2015, Volume 17, Issue 11, pp. 1445 - 1452
A growing body of epidemiologic and tumor genomic research has identified an important role for telomere maintenance in glioma susceptibility, initiation, and... 
shelterin | glioma | telomerase | genome-wide association | telomere | TERT PROMOTER MUTATIONS | VARIANTS | LENGTH | SUSCEPTIBILITY LOCI | RISK | CANCER | TUMORS | CLINICAL NEUROLOGY | ONCOLOGY | DISEASE | GRADE | Glioma - genetics | Brain Neoplasms - genetics | Adult | Humans | Telomere - genetics | Invited Reviews
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Lancet Oncology, The, ISSN 1470-2045, 2017, Volume 18, Issue 6, pp. e330 - e340
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