Prevalence of the APC E1317Q variant in colorectal cancer patients

Popat, Sanjay; Stone, Joanne; Coleman, Gary C.; Marshall, Gill; Peto, Julian; Frayling, Ian Martin; Houlston, Richard S.

doi:10.1016/s0304-3835(99)00360-2

Cited by 39 publications

(22 citation statements)

References 12 publications

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“…In another tumor, there was a rare heterozygous polymorphism (c.3949G>C/p. Glu1317Gln) that might represent a colonic adenomacarcinoma predisposition allele (33)(34)(35)(36). These two variants were found in the DNA of both the leukocytes and tumors.…”

Section: Acts In Patients With Sporadic Accmentioning

confidence: 99%

Inactivation of theAPCGene Is Constant in Adrenocortical Tumors from Patients with Familial Adenomatous Polyposis but Not Frequent in Sporadic Adrenocortical Cancers

Gaujoux

Pinson

Gimenez-Roqueplo

et al. 2010

Clinical Cancer Research

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Purpose: In adrenocortical tumors (ACT), Wnt/β-catenin pathway activation can be explained by β-catenin somatic mutations only in a subset of tumors. ACT is observed in patients with familial adenomatous polyposis (FAP) with germline APC mutations, as well as in patients with Beckwith-Wiedemann syndrome with Wilms' tumors reported to have WTX somatic mutations. Both APC and WTX are involved in Wnt/β-catenin pathway regulation and may play a role in ACT tumorigenesis. The aim of this study was to report if APC and WTX may be associated with FAP-associated and sporadic ACT.Experimental Design: ACTs from patients with FAP and sporadic adrenocortical carcinomas (ACC) with abnormal β-catenin localization on immunohistochemistry but no somatic β-catenin mutations were studied. APC was analyzed by denaturing high-performance liquid chromatography followed by direct sequencing and by multiplex ligation-dependent probe amplification when allelic loss was suspected. WTX was studied by direct sequencing.Results: Four ACTs were observed in three patients with FAP and were ACC, adrenocortical adenoma, and bilateral macronodular adrenocortical hyperplasia, all with abnormal β-catenin localization. Biallelic inactivation of APC was strongly suggested by the simultaneous existence of somatic and germline alterations in all ACTs. In the 20 sporadic ACCs, a silent heterozygous somatic mutation as well as a rare heterozygous polymorphism in APC was found. No WTX mutations were observed.Conclusions: ACT should be considered a FAP tumor. Biallelic APC inactivation mediates activation of the Wnt/β-catenin pathway in the ACTs of patients with FAP. In contrast, APC and WTX genetic alterations do not play a significant role in sporadic ACC. Clin Cancer Res; 16(21); 5133-41. ©2010 AACR.

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Section: Acts In Patients With Sporadic Accmentioning

confidence: 99%

Inactivation of theAPCGene Is Constant in Adrenocortical Tumors from Patients with Familial Adenomatous Polyposis but Not Frequent in Sporadic Adrenocortical Cancers

Gaujoux

Pinson

Gimenez-Roqueplo

et al. 2010

Clinical Cancer Research

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“…These individuals were of Caucasian origin and had no personal or family history of cancer. 50 The second set of population controls (set B) were 206 Caucasian females from the Oxford, Leeds and South London area, who were part of a breast cancer case-control study conducted by the UK National Case-Control Study Group (UK National Case-Control Study Group, 1989). All the women were cancer-free, randomly selected via general practice surgeries and aged up to 45 y.…”

Section: Subjectsmentioning

confidence: 99%

Association between hormonal genetic polymorphisms and early-onset prostate cancer

Forrest

Edwards

Houlston

et al. 2005

Prostate Cancer Prostatic Dis

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We investigated the association between seven polymorphisms in four candidate genes involved in vitamin D and androgen metabolism with early-onset prostate cancer (CaP) risk. The polymorphisms were genotyped in 288 UK males who were diagnosed with CaP at the age of 55 y or younger and up to 700 population-based controls. An additional 50 cases (not selected for age) and 76 controls were also genotyped. Short (p22 repeats) AR (CAG) n repeats were associated with a significantly reduced risk of early onset CaP (OR 0.68, 95% CI 0.50-0.91) compared with men with long (422) repeats. Men homozygous for the leucine variant of SRD5A2 p.89V4L were also found to be at a significantly increased risk of CaP compared with men who were homozygous for the valine allele (OR 1.84, 95% CI 1.15-2.98). No associations were found with the AR (GGC) n , CYP17 Msp A1 I, VDR Taq I, SRD5A2 (TA) n and p.49A4T polymorphisms and CaP risk. These findings suggest that common polymorphisms in the AR and SRD5A2 genes may be associated with early-onset CaP in British men.

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“…The APC E1317Q missense variant was first described by White et al (1) in two of four siblings in an Ashkenazi Jewish colorectal cancer family. APC E1317Q has been reported to confer an increased risk of colorectal adenomas and cancer in some (2)(3)(4)(5) but not all (6)(7)(8)(9)(10) case-control studies. To clarify the divergent findings from previous reports, the present study investigates the relationship between E1317Q and colorectal cancer in a large population-based case-control study of colorectal cancer in northern Israel.…”

Section: Introductionmentioning

confidence: 99%

APC E1317Q Is Not Associated with Colorectal Cancer in a Population-Based Case-Control Study in Northern Israel

Rozek¹,

Rennert²,

Gruber³

2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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A variant in the adenomatous polyposis coli gene, APC E1317Q, has been inconsistently associated with risk of colorectal cancer. We used data collected as a part of the Molecular Epidemiology of Colorectal Cancer study, a population-based study of colorectal cancer in northern Israel (1,834 matched cases and controls), to evaluate the relationship between this variant and risk of sporadic colorectal cancer. There was no association between E1317Q and colorectal cancer [odds ratio (OR), 1.15; 95% CI, 0.65-2.02]. When the control sample was restricted to polyp-free controls, the OR was 0.87 (95% CI, 0.36-2.14), indicating that this result is unlikely to be due to nondifferential misclassification due to undiagnosed polyps. A meta-analysis including these data and prior published reports found a nonsignificant summary OR nearly identical to the association reported here in the Molecular Epidemiology of Colorectal Cancer case-control study. Although there are previously published reports addressing this question, due to the low frequency of the variant, many of these studies lack the power to estimate the risk in a meaningful way. Given the substantial size of our study and the consistency of our findings with the results of our meta-analyses, we conclude that it is unlikely that APC E1317Q is associated with a clinically meaningful risk of colorectal cancer.(Cancer Epidemiol Biomarkers Prev 2006;15(11):2325 -7)

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Prevalence of the APC E1317Q variant in colorectal cancer patients

Cited by 39 publications

References 12 publications

Inactivation of theAPCGene Is Constant in Adrenocortical Tumors from Patients with Familial Adenomatous Polyposis but Not Frequent in Sporadic Adrenocortical Cancers

Inactivation of theAPCGene Is Constant in Adrenocortical Tumors from Patients with Familial Adenomatous Polyposis but Not Frequent in Sporadic Adrenocortical Cancers

Association between hormonal genetic polymorphisms and early-onset prostate cancer

APC E1317Q Is Not Associated with Colorectal Cancer in a Population-Based Case-Control Study in Northern Israel

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