Tags

Type your tag names separated by a space and hit enter

The frequency of Muir-Torre syndrome among Lynch syndrome families.
J Natl Cancer Inst. 2008 Feb 20; 100(4):277-81.JNCI

Abstract

Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2. Muir-Torre syndrome is a variant of Lynch syndrome that includes a predisposition to certain skin tumors. We determined the frequency of Muir-Torre syndrome among 50 Lynch syndrome families that were ascertained from a population-based series of cancer patients who were newly diagnosed with colorectal or endometrial carcinoma. Histories of Muir-Torre syndrome-associated skin tumors were documented during counseling of family members. Muir-Torre syndrome was observed in 14 (28%) of 50 families and in 14 (9.2%) of 152 individuals with Lynch syndrome. Four (44%) of nine families with MLH1 mutations had a member with Muir-Torre syndrome compared with 10 (42%) of 24 families with MSH2 mutations (P = .302). Families who carried the c.942+3A>T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026). Muir-Torre syndrome was not found in families with mutations in the MSH6 or PMS2 genes. Our results suggest that Muir-Torre syndrome is simply a variant of Lynch syndrome. Screening for Muir-Torre syndrome-associated skin lesions among patients with Lynch syndrome is recommended.

Authors+Show Affiliations

Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University-Columbus, OH, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18270343

Citation

South, Christopher D., et al. "The Frequency of Muir-Torre Syndrome Among Lynch Syndrome Families." Journal of the National Cancer Institute, vol. 100, no. 4, 2008, pp. 277-81.
South CD, Hampel H, Comeras I, et al. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst. 2008;100(4):277-81.
South, C. D., Hampel, H., Comeras, I., Westman, J. A., Frankel, W. L., & de la Chapelle, A. (2008). The frequency of Muir-Torre syndrome among Lynch syndrome families. Journal of the National Cancer Institute, 100(4), 277-81. https://doi.org/10.1093/jnci/djm291
South CD, et al. The Frequency of Muir-Torre Syndrome Among Lynch Syndrome Families. J Natl Cancer Inst. 2008 Feb 20;100(4):277-81. PubMed PMID: 18270343.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The frequency of Muir-Torre syndrome among Lynch syndrome families. AU - South,Christopher D, AU - Hampel,Heather, AU - Comeras,Ilene, AU - Westman,Judith A, AU - Frankel,Wendy L, AU - de la Chapelle,Albert, Y1 - 2008/02/12/ PY - 2008/2/14/pubmed PY - 2008/2/27/medline PY - 2008/2/14/entrez SP - 277 EP - 81 JF - Journal of the National Cancer Institute JO - J Natl Cancer Inst VL - 100 IS - 4 N2 - Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2. Muir-Torre syndrome is a variant of Lynch syndrome that includes a predisposition to certain skin tumors. We determined the frequency of Muir-Torre syndrome among 50 Lynch syndrome families that were ascertained from a population-based series of cancer patients who were newly diagnosed with colorectal or endometrial carcinoma. Histories of Muir-Torre syndrome-associated skin tumors were documented during counseling of family members. Muir-Torre syndrome was observed in 14 (28%) of 50 families and in 14 (9.2%) of 152 individuals with Lynch syndrome. Four (44%) of nine families with MLH1 mutations had a member with Muir-Torre syndrome compared with 10 (42%) of 24 families with MSH2 mutations (P = .302). Families who carried the c.942+3A>T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026). Muir-Torre syndrome was not found in families with mutations in the MSH6 or PMS2 genes. Our results suggest that Muir-Torre syndrome is simply a variant of Lynch syndrome. Screening for Muir-Torre syndrome-associated skin lesions among patients with Lynch syndrome is recommended. SN - 1460-2105 UR - https://www.unboundmedicine.com/medline/citation/18270343/The_frequency_of_Muir_Torre_syndrome_among_Lynch_syndrome_families_ L2 - https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/djm291 DB - PRIME DP - Unbound Medicine ER -