References
- Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, et al. EU-consortium care for CMMRD (C4CMMRD). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: Suggestions of the European consortium ‘care for CMMRD’ (C4CMMRD). J Med Genet 2014;51:355-65.
- Ricciardone MD, Ozçelik T, Cevher B, Ozdag H, Tuncer M, Gürgey A, et al. Human MLH1 deficiency predispones to hematological malignancy and neurofibromatosis type 1. Cancer Res 1999;59:290-3.
- Wang Q, Lasset C, Desseigne F, Frappaz D, Bergeron C, Navarro C, et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 1999;59:294-7.
- Wang Q, Montmain G, Ruano E, Upadhyaya M, Dudley S, Liskay RM, et al. Neurofibromatosis Type 1 gene as a mutational target in a mismatch repair-deficient cell type. Hum Genet 2003;112:117-23.
- Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 2007;39:1120-6.
- Levi Z, Kariv R, Barnes-Kedar I, Goldberg Y, Half E, Morgentern S, et al. The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: From a single adenoma to polyposis-like phenotype and early onset cancer. Clin Genet 2015;88:474-8.
- Nguyen A, Bougeard G, Koob M, Chenard MP, Schneider A, Maugard C, et al. MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic LH1 mutation. Fam Cancer 2016;15:571-7.
- Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, et al. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitucional mismatch repair deficiency syndrome. Eur J Hum Genet 2013;21:55-61.
- Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol 2010;105:2449-56.
- Wimmer K, Etzler J. Constitutional mismatch repair deficiency syndrome: Have we so far seen only the tip of an iceberg? Hum Genet 2008;124:105-22.
- Kratz CP, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer CM, et al. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. J Med Genet 2009;46:418-20.
- Durno C, Aronson M, Bapat B, Cohen Z, Gallinger S. Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. Gut 2005;54:1146-50.
- Gallinger S, Aronson M, Shayan K, Ratcliffe EM, Gerstle JT, Parkin PC, et al. Gastrointestinal cancers and neurofibromatosis Type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology 2004;126:576-85.
- Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, et al. A homozygous mutation in MSH6 causes turcot syndrome. Clin Cancer Res 2005;11:4689-93.