APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients

Guo, Jiayi; Lim, Robert; Soo, Ross A.; Leong, A. F. P. K.; Lee, Soo‐Chin

doi:10.1097/01.gim.0000132687.93304.c6

Cited by 7 publications

(5 citation statements)

References 11 publications

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“…The absence in these Taiwanese subjects of the Caucasian-specific mutations p.E1317Q and p.I1307K that are known to cause missense changes is in accord with the findings of Guo et al . [ 20 ]. Additionally, Asian-specific variants such as the odd mutations reported in a Japanese study [ 21 ] were not displayed by any of the Taiwanese subjects in the present study.…”

Section: Discussionmentioning

confidence: 99%

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan

et al. 2006

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Background: Colorectal cancer (CRC), which has become especially prevalent in developed countries, is currently the third highest cause of cancer mortality in Taiwan. Mutation of the adenomatous polyposis coli (APC) gene, a tumour suppressor, is thought to be an early event in colorectal tumourigenesis. To date, however, no large-scale screening for APC gene variants in Chinese subjects has been performed. The present study was undertaken to identify APC gene variants that are significantly associated with the occurrence of CRC in Taiwanese subjects.

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Section: Discussionmentioning

confidence: 99%

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan

et al. 2006

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“…The results from our study are intriguing because they support previous conclusions that these common and rare allele variants of APC likely influence colorectal carcinogenesis (7,8,22). A number of studies support the importance of variation in APC on colorectal adenoma with weak to no association with colorectal cancer (9,10,12,13,15,17,18,23). These data suggest that modest acting variants might act as predisposing variants for adenoma development but are insufficient alone as risk factors for cancer.…”

Section: Discussionmentioning

confidence: 92%

“…The frequency of the 1307K polymorphism is highest in Ashkenazi Jewish populations (f6%; refs. 7,14,16) and rare in other groups (11,17,18). Therefore, risk associated with 1307K is less generalizable across populations, and inconsistent results for this polymorphism may reflect population-specific effects.…”

Section: Introductionmentioning

confidence: 96%

“…However, when compared with a colonoscopy-negative control group, 1317Q was more prevalent in adenoma and cancers especially among those that retained mismatch repair (19). Subsequent work has generally not supported a major role for the 1317Q in colorectal cancer risk (9,11,17,18,21) although cumulative and more recent evidence implicate 1317Q in adenoma risk (14).…”

Section: Introductionmentioning

confidence: 99%

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Presence of a TA Haplotype in the APC Gene Containing the Common 1822 Polymorphism and Colorectal Adenoma

Egan¹,

Jacobs²,

Martı́nez³

et al. 2008

Cancer Research

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Acquired or inherited mutations in the adenomatous polyposis coli (APC) tumor suppressor gene are causally linked to colorectal cancer. Given the significance of APC in colorectal cancer, we investigated the association between common single-nucleotide polymorphisms (SNP) in the APC gene and the odds of developing metachronous colorectal adenomas as a surrogate measure of colorectal cancer risk. Coding SNPs at codons 486, 1678, 1822, 1960, and 2502 were analyzed in a total of 1,399 subjects who participated in two randomized clinical trials for the prevention of colorectal adenomas. No association was found for any single SNP and the odds of metachronous adenoma. In contrast, a TA haplotype (codons 486 and 1822) was associated with a statistically significant 27% and 26% reduction in the odds of any and nonadvanced metachronous adenoma after adjustment for baseline adenoma characteristics [odds ratio (OR), 0.73; 95% confidence interval (95% CI), 0.59-0.91 and OR, 0.74; 95% CI, 0.57-0.94], respectively. No significant reduction in odds was observed for advanced metachronous lesions. Diplotype analysis revealed a strong gene dose effect with carriers of two alleles containing TT-AA (codons 486 and 1822, respectively) having an 89% lower odds for advanced metachronous adenomas (OR, 0.11; 95% CI, 0.01-0.80) when compared with the common CC-AA diplotype (codons 486 and 1822, respectively). Our findings support an important role for germ-line allele sequence in the APC gene and individual risk of metachronous adenomatous polyps. [Cancer Res 2008;68(14):6006-13]

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“…Occurrence of APC mutation types may vary among different patient populations. For example, it was demonstrated that the APC I1307K and E1317Q mutations were not detected in Chinese patients with colorectal cancer [9]. Therefore, it is important to systematically screen the APC mutations among Chinese patients with FAP.…”

Section: Introductionmentioning

confidence: 99%

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis

Wang

Zhang

et al. 2019

Med Sci Monit

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Background Familial adenomatous polyposis (FAP), which has a very high tendency of progression to colorectal cancer, is mainly caused by mutations of the adenomatous polyposis coli (APC) gene. This study systematically screened the APC mutations and observed the correlation of APC mutations with clinical manifestations of FAP. Material/Methods Eighty subjects (probands and their family members of 22 FAP pedigrees) were enrolled, underwent abdominal ultrasound, computed tomography, and colonoscopic examinations, and were assessed for APC mutations between January 2010 and June 2015 at Tianjin Union Medical Center. Peripheral blood was collected from subjects, and DNA was extracted and screened for APC mutations using multiplex ligation-dependent probe amplification for large-fragment deletions or PCR-denaturing high-performance liquid chromatography with DNA sequencing for micromutations. Results Nineteen of 22 FAP pedigrees were found to have mutations of APC , and 17 types APC mutations were identified. All the mutations were heterozygosity with autosomal dominant inheritance. APC mutations included 8 caused by frameshift, 3 by aberrant splicing, 2 by missense mutation, 2 by nonsense mutation, and 2 by large-fragment deletion. Frameshift mutation was the most common type of APC mutation, and Coding DNA Sequence 15 was the most common mutation site. Five novel APC mutations, including 1 with large-fragment deletion, were identified. Conclusions We systematically screened 17 mutations of APC from 22 Chinese pedigrees with FAP. This study will broaden the spectrum of known APC germline mutations and help understand the types and distribution of APC mutations among Chinese patients with FAP.

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APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients

Cited by 7 publications

References 11 publications

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan

Presence of a TA Haplotype in the APC Gene Containing the Common 1822 Polymorphism and Colorectal Adenoma

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis

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