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]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

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