Mismatch repair deficiency

Definition:

Mismatch repair (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A clinical variant of Lynch syndrome, Muir-Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. Turcot syndrome is characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas.

References:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.