[HTML][HTML] Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature

S Akhtar, KK Oza, SA Khan, J Wright - Journal of the American Academy of …, 1999 - Elsevier
Background: Muir-Torre syndrome is a rare autosomal dominant genodermatosis, first
described in 1967, characterized by the presence of sebaceous tumors and an internal …

Heritable colorectal cancer syndromes: recognition and preventive management

LA Boardman - Gastroenterology Clinics, 2002 - gastro.theclinics.com
Nearly one fifth of all colorectal cancers (CRC) arise in the context of a family history of CRC.
Hereditary nonpolyposis colorectal cancer (HNPCC), familial adenomatous polyposis (FAP) …

Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations

RD Kolodner, NR Hall, J Lipford, MF Kane, MRS Rao… - Genomics, 1994 - Elsevier
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is a major cancer susceptibility
syndrome known to be caused by inheritance of mutations in genes such as hMSH2 and …

Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the …

R Kruse, A Rütten, C Lamberti… - The American Journal of …, 1998 - cell.com
Muir-Torre syndrome (MTS) is an autosomal dominant disease defined by the coincidence
of at least one sebaceous skin tumor and one internal malignancy. About half of MTS …

Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study

A Rütten, W Burgdorf, H Hügel, H Kutzner… - The American journal …, 1999 - journals.lww.com
Cystic sebaceous tumors (CST) are well-circumscribed, large, deeply located dermal
sebaceous proliferations with a cystic growth pattern. We identified 12 CST in 8 of 19 …

Systemic disease and the skin

NH Cox, IH Coulson - 2010 - insight.cumbria.ac.uk
This chapter contains sections titled: Endocrine disorders; Cutaneous markers of internal
malignancy [1-11]; The gastrointestinal tract; Liver disease; Pancreatic disease; Renal …

Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?

R Kruse, C Lamberti, Y Wang, C Ruelfs, A Bruns… - Human genetics, 1996 - Springer
Abstract The Muir-Torre syndrome (MTS) is a rare autosomal-dominant condition
characterized by the occurrence of sebaceous skin lesions and internal tumours in a patient …

Mismatch repair protein deficiency is common in sebaceous neoplasms and suggests the importance of screening for Lynch syndrome

EF Plocharczyk, WL Frankel, H Hampel… - The American Journal …, 2013 - journals.lww.com
The association between Lynch syndrome and sebaceous neoplasms is well characterized.
The absence of expression of mismatch repair proteins (MMRPs) by immunohistochemistry …

Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.

NJ Froggatt, C Brassett, DJ Koch, DG Evans… - Journal of medical …, 1996 - jmg.bmj.com
Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2)
have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC) …

The genetics of colorectal cancer

DT Bishop, NR Hall - European Journal of Cancer, 1994 - Elsevier
CLINICALLY, we recognise a number of distinct syndromes which predispose to colorectal
cancer. The majority of these syndromes are inherited as autosomal dominant genes, which …