Biallelic MYH germline mutations as cause of Muir-Torre syndrome

Familial Cancer

Volumn 9, Issue 2, 2010, Pages 151-154

  Guillén Ponce, Carmen ^a   Castillejo, Adela ^b   Barberá, Víctor M ^b   Pascual Ramírez, J Carlos ^b   Andrada, Encarnación ^b   Castillejo, M Isabel ^b   Guarinós, Carla ^b   Molina Garrido, M J ^c   Carrato, Alfredo ^a   Soto, J L ^b  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b Elche University Hospital   (Spain)

^c HOSPITAL VIRGEN DE LA LUZ   (Spain)

Author keywords

Muir Torre syndrome; MYH gene; MYH associated polyposis; Sebaceous adenomas

Indexed keywords

ADENOMATOUS POLYP; ADULT; ARTICLE; CASE REPORT; COLORECTAL CANCER; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MISMATCH REPAIR; MUIR TORRE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; STOMACH CANCER;

EID: 77955057944     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9309-x     Document Type: Article

References (14)

1. Ponti G, Losi L, Pedroni M et al (2006) 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):2302-2307
2. Ponti G, Ponz de Leon M, Maffei S et al (2005) Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet 68:442-447
3. Ajith Kumar VK, Gold JA, Mallon E, Thomas S, Hodgson SV (2008) Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. Familial Cancer 7(2):187-189
4. Boland CR, Thibodeau SN, Hamilton SR et al (1998) A national cancer institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58(22):5248-5257
5. Al-Tassan N, Chmiel NH, Maynard J et al (2002) Inherited variants of MYH associated with somatic G:C ? T:A mutations in colorectal tumors. Nat Genet 30(2):227-232
6. Russell AM, Zhang J, Luz J et al (2006) Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer 118(8):1937-1940
7. Nielsen M, Franken PF, Reinards TH et al (2005) Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 42(9):e54
8. Aretz S, Uhlhaas S, Goergens H et al (2006) MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 119(4):807-814
9. Wang L, Baudhuin LM, Boardman LA et al (2004) MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 127(1):9-16
10. Baglioni S, Melean G, Gensini F et al (2005) A kindred with MYH-associated polyposis and pilomatricomas. Am J Med Genet 134A(2):212-214
11. Sampson JR, Dolwani S, Jones S et al (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362(9377):39-41
12. Barnetson RA, Devlin L, Miller J et al (2007) Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet 72:551-555
13. Vasen HF, Moeslein G, Alonso A et al (2008) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57(5):704-713
14. Balaguer F, Castellvi-Bel S, Castells A et al (2007) Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol 5(3):379-387