Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes

Grünhage, F; Jungck, Matthias; Lamberti, C.; Berg, Christine D.; Becker, Ursula; Schulte-Witte, Hildegard; Plassmann, Dominik; Rahner, Nils; Aretz, Stefan; Friedrichs, Nicolaus; Buettner, Reinhard; Sauerbruch, Tilman; Lammert, Frank

doi:10.1007/s00384-007-0388-6

Cited by 51 publications

(39 citation statements)

References 42 publications

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“…To formally evaluate dosage effect within different categories, we applied the Cochran-Armitage tests for trend before and after removing the outlier studies (Table 2A and B). Significant dosage effects were observed in overall (P = 0.00001) and Asians (P = 0.00001); however, trend was not significant in Caucasians after removing the heterogeneous studies (20,22,26,38,41,57). Among the cancer types, significant dosage effects were observed in blood-related (P = 0.0001), genitourinary (P = 0.0001), and other cancers (P = 0.001; Table 2A) before excluding the outliers and none were significant after outlier removal (Table 2B).…”

Section: Resultsmentioning

confidence: 97%

“…1). To identify which of the 60 studies that may be sources of heterogeneity, we used the Galbraith plot and accordingly identified 12 studies (20,22,23,26,37,38,41,43,44,46,57,62) as the main contributors (Table 1; Fig. 2).…”

Section: Resultsmentioning

confidence: 99%

“…Heterogeneity was explored using subgroup analysis (10) with ethnicity (Asians and Caucasians) and cancer types. We have classified the cancer types in nine different categories including breast (13)(14)(15)(16)(17)(18)(19), colorectal (20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34), gynecologic [ovarian (35), cervical (36), and endometrial (37)], digestive tract [oral (38)(39)(40), esophageal (41)(42)(43)(44), and stomach (45,46)], blood-related [acute lymphoblastic leukemia (47), mantle cell lymphoma (48), and non-Hodgkin's lymphoma (49)], genitourinary [bladder (50)(51)(52)(53), prostate (54,55), and kidney (56)], lung (57)(58)(59)…”

Section: Methodsmentioning

confidence: 99%

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Cyclin D1 Pro241Pro (CCND1-G870A) Polymorphism Is Associated with Increased Cancer Risk in Human Populations: A Meta-Analysis

Pabalan

Bapat

Sung

et al. 2008

Cancer Epidemiology, Biomarkers &Amp; Prevention

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The G870A polymorphism in the CCND1 gene may influence cancer risk. However, data from published studies with individual low statistical power have been controversial. To evaluate whether combined evidence shows an association between this polymorphism and cancer, we considered all available studies in a meta-analysis. Sixty studies were combined representing data for 18,411 cases and 22,209 controls. In our meta-analysis, we investigated overall sample and two ethnic populations (Caucasians and Asians) as well as nine cancer subtypes. Individuals who are homozygous for A allele (AA) were found to be associated with significantly increased cancer risk in overall sample [odds ratio (OR), 1.23; 95% confidence interval (95% CI), 1.13-1.33; P V 0.0001], Caucasians (OR, 1.16; 95% CI, 1.07-1.26; P = 0.0002), and Asians (OR, 1.26; 95% CI, 1.14-1.39; P V 0.001). Among the nine cancer subtypes investigated, modestly significant risk (ORs, 1.08 to 1.51; P = 0.02 to 0.04) was detected in breast, colorectal, head and neck, and other cancers. Highly significant and increased risk was found to be associated with genitourinary (OR, 1.51; 95% CI, 1.20-1.89; P = 0.0004) and blood-related cancers (OR, 1.62; 95% CI, 1.28-2.

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Section: Resultsmentioning

confidence: 97%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Cyclin D1 Pro241Pro (CCND1-G870A) Polymorphism Is Associated with Increased Cancer Risk in Human Populations: A Meta-Analysis

Pabalan

Bapat

Sung

et al. 2008

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…Results by gender were not provided in the publications; thus, separate meta-analyses on men and women were not possible. However, for ff and CRC, the only study including a higher proportion of women than men (52) showed a statistically significant positive association (RR ¼ 1.84, 1.15-2.94), whereas studies including a higher proportion of men than women (19,50,53) or an equal proportion of men/women (21,51,(54)(55)(56)(57) (Table I). From these, 4 studies also reported on BsmI (19,20,51,54) and 4 on Fok I (19,51,54,57).…”

Section: Vdr Polymorphismsmentioning

confidence: 98%

Meta-Analyses of Vitamin D Intake, 25-Hydroxyvitamin D Status, Vitamin D Receptor Polymorphisms, and Colorectal Cancer Risk

Touvier

Chan

Lau

et al. 2011

Cancer Epidemiology, Biomarkers &Amp; Prevention

184

137

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Background: Our objective was to conduct a systematic review and meta-analysis of prospective studies on colorectal cancer (CRC) and vitamin D intake and 25-hydroxyvitamin D status, as part of the World Cancer Research Fund Continuous Update Project. We also aimed at conducting meta-analysis of all studies on CRC and vitamin D receptor (VDR) single-nucleotide polymorphisms.Methods: Relevant studies were identified in PubMed (up to June 2010). Inclusion criteria were original and peer-reviewed publications with a prospective design (for studies on vitamin D intake or status). Random effects of dose-response meta-analyses were performed on cancer incidence. Conclusions: These meta-analyses support the evidence of an inverse association between vitamin D intake, 25-hydroxyvitamin D status, and the BsmI VDR polymorphism and CRC risk.Impact: Improving vitamin D status could be potentially beneficial against CRC incidence. Cancer Epidemiol Biomarkers Prev; 20(5); 1003-16. Ó2011 AACR.

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“…6 With respect to colorectal cancer in particular, subjects with hereditary nonpolyposis colorectal cancer who carry the rs9344 polymorphism have been reported to acquire the disease at an earlier age. [7][8][9] Also, carriers of the A allele appear to be more frequent among individuals who developed non-syndromic colorectal cancer before the age of 60, 10 subjects with familial colorectal cancer 11,12 and affected women. 13,14 Other reports, however, do not subscribe to rs9344 genotype being a modifier of the colorectal cancer phenotype.…”

Section: Introductionmentioning

confidence: 99%

Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients

et al. 2010

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We examined the influence that rare variants and low-frequency polymorphisms in the cancer candidate gene CCND1 have on the development of multiple intestinal adenomas and the early onset of colorectal cancer. Individuals with o100 multiple polyps and patients with colorectal cancer diagnosed before 50 years of age were recruited in UK, and screened for sequence changes in the coding and regulatory regions of CCND1. A set of about 800 UK control individuals was genotyped for the variants discovered in the cases. Variants in the promoter, intron-exon boundaries and untranslated regions of the CCND1 gene had higher frequencies in cases than in controls. Five of these variants were typed in a set of French multiple adenoma and early-onset patients, who also showed higher allele frequencies than UK controls. When pooled together, variants with frequencies lower than 1% conferred an increased risk of disease that was significant in the multiple adenoma group (odds ratio (OR) 2.2; 95% confidence interval, 1.1-4.4; P¼0.03). Most variants had a putative functional effect when assessed in silico. We conclude that rare variants of CCND1 are risk factors for colorectal cancer, with considerably larger effects than common polymorphisms, and as such should be systematically evaluated in susceptibility studies.

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Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes

Abstract: We report a potential association of variants in the CCND1 and CDH1 genes with fCRC using a unique study design with phenotypic extremes.

Cited by 51 publications

References 42 publications

Cyclin D1 Pro241Pro (CCND1-G870A) Polymorphism Is Associated with Increased Cancer Risk in Human Populations: A Meta-Analysis

Cyclin D1 Pro241Pro (CCND1-G870A) Polymorphism Is Associated with Increased Cancer Risk in Human Populations: A Meta-Analysis

Meta-Analyses of Vitamin D Intake, 25-Hydroxyvitamin D Status, Vitamin D Receptor Polymorphisms, and Colorectal Cancer Risk

Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients

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