Abstract
MYH associated polyposis is an autosomal recessive polyposis syndrome with a high risk of large bowel cancer, caused by mutations in the DNA repair gene MYH. Founder mutations have been described in different ethnic groups. Muir Torre Syndrome is the association of internal malignancies with sebaceous gland tumours; Lynch Syndrome/Hereditary Non Polyposis Cancer is the best known cause. There has been a previous report of sebaceous gland tumours in an Italian patient with MYH associated polyposis. We describe a man of Indian (Gujarati) descent who has MYH associated polyposis and multiple sebaceous adenomas of the skin.
This is a preview of subscription content, log in via an institution to check access.
References
Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP (2002) Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet 30(2):227–232, Epub 2002 Jan 30. PMID: 11818965
Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362(9377):39–41, PMID: 12853198
Fleischmann C, Peto J, Cheadle J, Shah B, Sampson J, Houlston RS (2004) Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Int J Cancer 109(4):554–558, PMID: 14991577
Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, Viel A, Fornasarig M, Arrigoni A, Gentile M, Ponz de Leon M, Anselmi L, Mareni C, Bruzzi P, Varesco L (2004) Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer 109(5):680–684, PMID: 14999774
Baglioni S, Melean G, Gensini F, Santucci M, Scatizzi M, Papi L, Genuardi M (2005) A kindred with MYH-associated polyposis and pilomatricomas. Am J Med Genet 134(2):212–214, PMID: 15690400
Ponti G, Ponz de Leon M, Maffei S, Pedroni M, Losi L, Di Gregorio C, Gismondi V, Scarselli A, Benatti P, Roncari B, Seidenari S, Pellacani G, Varotti C, Prete E, Varesco L, Ronucci L (2005) Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet 68(5):442–447, PMID: 16207212
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Ajith Kumar, V.K., Gold, J.A., Mallon, E. et al. Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. Familial Cancer 7, 187–189 (2008). https://doi.org/10.1007/s10689-007-9161-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10689-007-9161-9