A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas

European Journal of Surgical Oncology

Volumn 35, Issue 10, 2009, Pages 1128-1130

  Tanyi, M ^a   Olasz, J ^b   Lukacs G ^a   Tanyi, J L ^c   Toth L ^a   Antal Szalmas P ^a   Ress, Z ^a   Buban T ^a   Andras C ^a   Damjanovich, L ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b NATIONAL INSTITUTE OF ONCOLOGY   (Hungary)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Hereditary nonpolyposis colorectal cancer; hMLH1; hMSH2; Muir Torre syndrome; Mutation

Indexed keywords

ARGININE; MISMATCH REPAIR PROTEIN; PROLINE;

ADULT; ARTICLE; CASE REPORT; CECUM CARCINOMA; CODON; COLON CARCINOGENESIS; ENDOMETRIUM CANCER; FAMILIAL CANCER; FAMILY HISTORY; HEMICOLECTOMY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MISSENSE MUTATION; MUCINOUS CARCINOMA; MUIR TORRE SYNDROME; NEEDLE BIOPSY; PANCREAS ADENOCARCINOMA; PRIORITY JOURNAL; SEBACEOUS CARCINOMA; STOMACH CANCER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOCARCINOMA, MUCINOUS; CECAL NEOPLASMS; FAMILY HEALTH; HUMANS; MALE; MIDDLE AGED; MUIR-TORRE SYNDROME; MUTATION, MISSENSE; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PANCREATIC NEOPLASMS; PEDIGREE;

EID: 69949101454     PISSN: 07487983     EISSN: 15322157     Source Type: Journal    
DOI: 10.1016/j.ejso.2009.03.011     Document Type: Article

References (15)

1. Suoza R.F. Review article: a molecular rationale for the how, when and why of colorectal cancer screening. Aliment Pharmacol Ther 15 (2001) 451-462
2. Lawes D.A., SenGupta S.B., and Boulos P.B. Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer. Br J Surg 89 (2002) 1357-1369
3. Lynch H.T., Lynch P.M., Pester J., and Fusaro R.M. The cancer family syndrome: rare cutaneous phenotypic linkage of Torre's syndrome. Arch Intern Med 141 (1981) 607-611
4. Ponti G., Losi L., Pedroni M., et al. Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. J Invest Dermatol 126 10 (2006) 2302-2307
5. Lynch H.T., Fusaro R.M., and Lynch P.M. Sebaceous skin lesions as clues to hereditary non-polyposis colorectal cancer. J Invest Dermatol 126 10 (2006) 2158-2159
6. Ponti G., Losi L., Di Gregorio C., et al. Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas. Cancer 103 5 (2005) 1018-1025
7. Mangold E., Pagenstecher C., Leister M., et al. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 41 (2004) 567-572
8. Watson P., and Riley B. The tumor spectrum in the Lynch syndrome. Fam Cancer 4 (2005) 245-248
9. Matthews J.J., Roberts R., O'Reilly D.A., Schick S., and Kingsnorth A.N. Muir-Torre syndrome: a case for surveillance of the ampulla of Vater. Dig Surg 19 1 (2002) 65-66
10. Dores G.M., Curtis R.E., Toro J.R., Devesa S.S., and Fraumeni Jr. J.F. Incidence of cutaneous carcinoma and risk of associated neoplasms: insight into Muir-Torre syndrome. Cancer 113 12 (2008) 3372-3381
11. International Society for Gastrointestinal Hereditary Tumors. http://www.insight-group.org.
12. Plotz G., Welsch C., Giron-Monzon L., et al. Mutations in the MutSα interaction interface of MLH1 can abolish DNA mismatch repair. Nucleic Acids Res 34 22 (2006) 6574-6586
13. Sorting intolerant from tolerant. http://blocks.fhcrc.org/sift/SIFT.html.
14. PMut. http://mmb2.pcb.ub.es:8080/PMut/.
15. PolyPhen. http://genetics.bwh.harvard.edu/pph/.