Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

Lancet

Volumn 362, Issue 9377, 2003, Pages 39-41

  Sampson, Julian R ^a   Dolwani, Sunil ^a   Jones, Sian ^a   Eccles, Diana ^b   Ellis, Anthony ^c   Evans, D Gareth ^d   Frayling, Ian ^e   Jordan, Sheila ^a   Maher, Eamonn R ^f   Mak, Tony ^d   Maynard, Julie ^a   Pigatto, Francesca ^b   Shaw, Joan ^c   Cheadle, Jeremy P ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^d ST MARY S HOSPITAL   (United Kingdom)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COLORECTAL TUMOR; DISEASE TRANSMISSION; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENE MYH; GENE TRANSFER; GENETIC ANALYSIS; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REGISTER; UNITED KINGDOM;

EID: 0038501052     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(03)13805-6     Document Type: Article

References (5)

1. Bulow S., Bulow C., Nielsen T.F., Karlsen L., Moesgaard F. Centralized registration, prophylactic examination, and treatment results in improved prognosis in familial adenomatous polyposis. Results from the Danish Polyposis Register. Scand J Gastroenterol. 10:1995;989-993.
2. Al-Tassan N., Chmiel N.H., Maynard J., et al. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nature Genet. 30:2002;227-232.
3. Jones S., Emmerson P., Maynard J., et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations. Hum Mol Genet. 11:2002;2961-2967.
4. Slupska M.M., Baikalov C., Luther W.M., Chiang J.H., Wei Y.F., Miller J.H. Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J Bacteriol. 178:1996;3885-3892.
5. Sieber O.M., Lipton L., Crabtree M., et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 348:2003;791-799.