Mismatch repair deficiency
Definition:
References:
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[1]. Fred H Menko, et al. A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. Fam Cancer. 2004;3(2):123-7. [Content Brief]
[2]. Gaëlle Bougeard, et al. Early onset brain tumor and lymphoma in MSH2-deficient children. Am J Hum Genet. 2003 Jan;72(1):213-6. [Content Brief]
[3]. Hidewaki Nakagawa, et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res. 2004 Jul 15;64(14):4721-7. [Content Brief]
[4]. Katharina Wimmer, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J Med Genet. 2014 Jun;51(6):355-65. [Content Brief]
[5]. Kenta Masuda, et al. Relationship between DNA Mismatch Repair Deficiency and Endometrial Cancer. Mol Biol Int. 2011;2011:256063. [Content Brief]
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