Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

被引：313

作者：

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

机构：

[1] Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

[2] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[3] Royal Liverpool Hosp, Dept Gastroenterol, Liverpool L7 8XP, Merseyside, England

[4] St Marys Hosp, Acad Unit med Genet, Reg Genet Serv, Manchester M13 0JH, Lancs, England

[5] Addenbrookes Hosp, Dept Med Genet, Genet Mol Lab, Cambridge, England

[6] Univ Birmingham, Sect Med & Mol Genet, Birmingham, W Midlands, England

[7] W Midlands Reg Genet Serv, Birmingham, W Midlands, England

来源：

LANCET | 2003年 / 362卷 / 9377期

关键词：

D O I：

10.1016/S0140-6736(03)13805-6

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial, adenomatous polyposis (FAP) and attenuated FAP are autosomal dominant disorders characterised by multiple colorectal adenomas and cancers. Both are caused by inherited mutations in the APC gene, and management includes genetic testing, colonoscopic surveillance, and prophylactic surgery for the relatives of index cases. Among 614 families recorded in six regional registers of polyposis in the UK, we identified 111 with neither dominant transmission nor evidence of APC mutation. Molecular genetic analysis showed that 25 had biallelic mutations of the MYH gene. Since our data show that MYH polyposis can be transmitted as an autosomal recessive trait, a change in genetic counselling, testing, and surveillance Is needed.

引用

页码：39 / 41

页数：3

共 5 条

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[2]

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