Genotype-Phenotype Correlations in Attenuated Adenomatous Polyposis Coli
نویسندگان
چکیده
منابع مشابه
Attenuated Familial Adenomatous Polyposis
Attenuated familial adenomatous polyposis (AFAP) is a subtype of a condition known as familial adenomatous polyposis [2] (called FAP or classic FAP). People with FAP or AFAP will have an increased number of adenomatous colon polyps during their lifetime and an increased risk of developing colorectal cancer [3]. An adenomatous polyp is a lump filled with the cells that make mucous and line the i...
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Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). A m...
متن کاملFamilial adenomatous polyposis coli.
The other mode of treating these patients are subtotal colectomy with ileorectal anastomosis alongwith regular follow up with proctoscopy for development of cancer in retained rectal mucosa(3,7). Recently, Stevan et al. (8) utilized laproscope for total proctocolectomy as well as ileoanal anostomosis while others performed ileopouch anal anastomosis alongwith total proctocolectomy(9,10). Thus t...
متن کاملGenotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملDominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.
Inactivation of the adenomatous polyposis coli (APC) gene product initiates colorectal tumorigenesis. Patients with familial APC (FAP) carry germ-line mutations in the APC gene and develop multiple colorectal adenomas and subsequent carcinomas early in life. The severity of the disease correlates with the position of the inherited APC mutation (genotype-phenotype correlation). Together with the...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1998
ISSN: 0002-9297
DOI: 10.1086/301883