Frequency of codon 1061 and codon 1309 APC mutations in Australian familial adenomatous polyposis patients
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چکیده
منابع مشابه
Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review Of The literature
Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited as an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumo...
متن کاملشیوع جهش ژرم‌لاین در کدون 1309 ژن پولیپوز آدنوماتوز کُلی و ارتباط آن با تظاهرات خارج روده‌ای در سندرم پولیپوز آدنوماتوز خانوادگی
Background: Familial adenomatous polyposis (FAP) is the most common components polyposis syndromes. It incidence is for less than 1 percent of colorectal cancer cases. FAP is characterized by germline mutations in the adenomatous polyposis coli (APC) gene. Generally, there are hundreds to thousands of adenomatous polyps in colon and rectum of patients. The aim of the current study was to evalua...
متن کاملframeshift mutations (deletion at codon 1309 and codon 849) in the apc gene in iranian fap patients: a case series and review of the literature
familial adenomatous polyposis (fap) is responsible for < 1% of colorectal cancer (crc) cases and is inherited as an autosomal dominant trait. patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (apc) tum...
متن کاملGerm-line mutations of the APC gene in 53 familial adenomatous polyposis patients.
We searched for germ-line mutations of the APC gene in 79 unrelated patients with familial adenomatous polyposis using a ribonuclease protection analysis coupled with polymerase chain reaction amplifications of genomic DNA. Mutations were found in 53 patients (67%); 28 of the mutations were small deletions and 2 were 1- to 2-base-pair insertions; 19 were point mutations resulting in stop codons...
متن کاملGenotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.
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...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1998
ISSN: 1059-7794
DOI: 10.1002/humu.1380110120