Muir–Torre syndrome: Diagnostic and screening guidelines

Jones, Brad; Oh, Carol; Mangold, Elisabeth; Egan, Conleth A.

doi:10.1111/j.1440-0960.2006.00292.x

Cited by 32 publications

(21 citation statements)

References 12 publications

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“…Other associated cancers include lung, endometrial, ovarian, parotid, breast, gastric, small intestinal and haematological. 5 Muir-Torre syndrome has been recognised as a subset of Lynch syndrome type II (hereditary non-polyposis colon cancer [HNPCC]). Genetic mutations are common in Muir-Torre syndrome and the majority occur in the MSH2 gene.…”

Section: Discussionmentioning

confidence: 99%

Muir–Torre syndrome: a case report and screening recommendations

Pancholi

Collins²,

Lindley³

et al. 2008

Ann R Coll Surg Engl

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Section: Discussionmentioning

confidence: 99%

Muir–Torre syndrome: a case report and screening recommendations

Pancholi

Collins²,

Lindley³

et al. 2008

Ann R Coll Surg Engl

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“…But there was no clear site-specificity, mode of inheritance, or ethnic predilection among families with non-TCCUT cancers which might have suggested a distinct familial TCCUT syndrome. However, TCCUT has been implicated as part of the hereditary nonpolyposis colorectal cancer (HNPCC) cancer spectrum [53,54], and 9 (28%) of the previously-reported families presented features suggestive of HNPCC ( Table 3).…”

Section: Case Reports Of Familial Tccutmentioning

confidence: 99%

Familial and genetic risk of transitional cell carcinoma of the urinary tract

Mueller¹,

Caporaso²,

Greene³

2008

Urologic Oncology: Seminars and Original Investigations

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Environmental exposures, including tobacco smoke and occupational exposure to aromatic amines, have been implicated in bladder cancer etiology. However, the pathogenesis of urinary bladder transitional cell carcinoma remains incompletely defined. In epidemiologic studies, family history confers a two-fold increase in bladder cancer risk, but it is uncertain whether this represents evidence of a genetic and/or a shared environmental basis for familial aggregation. Polymorphisms in genes involved in the metabolism of environmental toxins (e.g., NAT2) clearly modify individual susceptibility to bladder cancer. A genetic predisposition has also been suggested by case reports describing multiple-case families, and the development of bladder cancer in association with several well-described Mendelian disorders (e.g., HNPCC, retinoblastoma). Here we update a previouslyreported family, report a new multiple-case kindred, critically review previously-reported bladder cancer families and the epidemiologic literature related to family history of transitional cell carcinoma of the urinary tract (TCCUT) as a risk factor, as well as provide a brief summary of genetic factors that have been implicated in TCCUT risk. We conclude that familial TCCUT is either very uncommon or significantly under-reported, perhaps on the assumption that this is an environmental rather than a genetic disorder. The interaction between multiple genetic and environmental factors has made it challenging to identify genetic components responsible for many common diseases; therefore, a proposed genome-wide association study (GWAS) for urinary bladder cancer may help to clarify the etiologic role of the candidate genetic pathways reviewed here, as well as characterize gene/environment interactions that contribute to TCCUT carcinogenesis.

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“…83 Recently, cases of MTS caused by a mutation in MutS homolog (MSH)-6 have also been reported. [84][85][86][87][88] As with Lynch syndrome, defects in the function of these proteins result in MSI. While a majority of sebaceous neoplasms are unassociated with internal malignancy, the proportion of those who are affected with MTS remains significant (42% in one study).…”

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confidence: 99%