Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
نویسندگان
چکیده
منابع مشابه
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
OBJECTIVE To investigate the contribution of MYH associated polyposis coli (MAP) among polyposis families in the Netherlands, and the prevalence of colonic and extracolonic manifestations in MAP patients. METHODS 170 patients with polyposis coli, who previously tested negative for APC mutations, were screened by denaturing gradient gel electrophoresis and direct sequencing to identify MYH ger...
متن کاملFamilial polyposis coli and its extracolonic manifestations.
A detailed clinical study of 30 families with familial polyposis coli is presented. Seven 'isolated' cases are also described. It was found that some families did not exhibit any extracolonic manifestations, but the majority of families showed various numbers of members who had these manifestations of differing types and degrees. In view of the great variability within the members of a family, ...
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introduction: due to the whole network of polyposis registers worldwide and early prophylactic treatment, survival of familial adenomatosis (fap) patients is improved. extracolonic manifestations are remarkable feature of fap. two extracolonic manifestations (duodenal adenomatosis, leading duodenal cancer and desmoid tumours) play a very important role in the reasons of death in polyposis popul...
متن کاملWhen is a desmoid not a desmoid? Endometrial cancer as an extracolonic manifestation of MYH Associated Polyposis (MAP)
Case history A 68 year old Caucasian woman presented with a lump in her right groin and lower abdominal pain. No changes in bowel habit or other bowel symptoms were reported. Previous medical history included endometrial cancer diagnosed at age 57, treated by hysterectomy and bilateral salpingo-oophorectomy. The family history was negative for desmoids, colon polyps and cancer. By CT scan, a 4 ...
متن کاملMap syndrome (MYH Associated Polyposis) colorectal cancer, etiopathological connections
The case presented raised our scientific curiosity and it is worthy of being brought in front of the medical audience because of several reasons presented below. Presently, there are 3 hereditary syndromes that have a demonstrated etiological relationship with the colorectal cancer: Familiar Adenomatous Polyposis (FAP syndrome), HNPCC syndrome (Hereditary Nonpoliposis Colorectal Cancer) and MAP...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2005.033217