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A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir–Torre variant of Lynch syndrome
Author(s) -
Maegan E. Roberts,
Douglas L. RiegertJohnson,
Brittany C. Thomas,
Kandelaria M. Rumilla,
Colleen S. Thomas,
Michael G. Heckman,
Jennifer U. Purcell,
Nancy Hanson,
Kathleen A. Leppig,
Justin Lim,
Mark A. Cappel
Publication year - 2014
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2014.19
Subject(s) - lynch syndrome , sebaceous carcinoma , medicine , colorectal cancer , family history , cancer , oncology , microsatellite instability , sebaceous gland , carcinoma , dna mismatch repair , biology , gene , genetics , allele , microsatellite
The Muir-Torre syndrome variant of Lynch syndrome is characterized by the presence of sebaceous neoplasms (adenoma, epithelioma/sebaceoma, carcinoma) and Lynch syndrome-associated cancers (colon, endometrial, and others). Several clinical scoring systems have been developed to identify patients with colon cancer at high risk of Lynch syndrome. However, no such system has been described for patients presenting with sebaceous neoplasms.

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