Low penetrance breast cancer predisposition SNPs are site specific

McInerney, Niall; Colleran, Gabrielle; Rowan, Andrew; Walther, Axel; Barclay, Ella; Spain, Sarah L.; Jones, Angela; Tuohy, Stephen; Curran, Catherine; Miller, Nicola; Kerin, Michael J.; Tomlinson, Ian; Sawyer, Elinor J.

doi:10.1007/s10549-008-0235-7

Cited by 36 publications

(13 citation statements)

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“…In total, 18 studies involving 44,820 cases and 58,316 controls met the inclusion criteria and were used in pooled analyses (Antoniou et al, 2008;Garcia-Closas et al, 2008;Li et al, 2009;Mcinerney et al, 2009;Gorodnova et al, 2010;Latif et al, 2010;Liang et al, 2010;Tamimi et al, 2010;Campa et al, 2011;Han et al, 2011;Slattery et al, 2011;Harlid et al, 2012;Shan et al, 2012;Mizoo et al, 2013;Ottini et al, 2013;Chen et al, 2014;Elematore et al, 2014). The primary features of these investigations are shown in Table 1.…”

Section: Study Characteristicsmentioning

confidence: 99%

“…In addition to the well-defined, highly penetrant modifications to genes such as BRCA1 and BRCA2, which are only observed in a limited number of cases, certain common, low-penetrance variations have been identified in other genes potentially implicated in BC (Dong et al, 2008). Recently, several genome-wide association studies (GWAS; Antoniou et al, 2008;Garcia-Closas et al, 2008;Mcinerney et al, 2009;Latif et al, 2010) have revealed multiple BC-associated loci, of which the majority are single nucleotide polymorphisms (SNPs). However, these contribute only insignificant effects to BC risk.…”

Section: Introductionmentioning

confidence: 99%

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Increased risk of breast cancer in individuals carrying the TNRC9 rs3803662 C>T polymorphism: a meta-analysis of case-control studies

Wang

Cao

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Currently, the relationship between the trinucleotide repeat containing 9 (TNRC9) rs3803662 C>T polymorphism and risk of breast cancer (BC) is uncertain. Here, we attempted to obtain a more accurate assessment of this association by conducting a meta-analysis of all eligible case-control investigations, comprising 44,820 cases and 58,316 controls. A comprehensive search was performed to identify all suitable studies involving the TNRC9 rs3803662 polymorphism and BC risk. Pooled odds ratios (ORs) and 95% confidence intervals (95%CIs) were estimated using fixed-or random-effect models. Heterogeneity, publication bias, and sensitivity analyses were also carried out. We found that the variant T allele of rs3803662 C>T greatly increases BC risk (CT vs CC: OR = 1.14, 95%CI = 1.07-1.22, P < 0.001; TT vs CC: OR = 1.38, 95%CI = 1.25-1.53, P < 0.001; CT/TT vs CC: OR = 1.19, 95%CI = 1.11-1.28, P < 0.001; TT vs CT/CC: OR = 1.28, 95%CI = 1.19-1.38, P < 0.001). Stratified analysis based on ethnicity also revealed a markedly increased risk in Asian and Caucasian populations. Moreover, studies with hospital-based control groups showed elevated risk under the four genetic models employed, as did those using population-based controls, except under heterozygote comparison. The TNRC9 rs3803662 C>T polymorphism is greatly related to increased risk of BC, in both Asian and Caucasian populations.

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Section: Study Characteristicsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Increased risk of breast cancer in individuals carrying the TNRC9 rs3803662 C>T polymorphism: a meta-analysis of case-control studies

Wang

Cao

et al. 2016

Genet. Mol. Res.

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“…Rs3803662, located near the 5 0 end of TNRC9, has been shown to be the SNP with the strongest association with BC. The SNP rs3803662 is related to both ER þ and ERÀ tumors (McInerney et al, 2009).…”

Section: Tnrc9mentioning

confidence: 99%

Breast cancer genome-wide association studies: there is strength in numbers

et al. 2011

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Breast cancer (BC) is a heterogeneous disease that exhibits familial aggregation. Family linkage studies have identified high-penetrance genes, BRCA1, BRCA2, PTEN and TP53, that are responsible for inherited BC syndromes. Moreover, a combination of family-based and population-based approaches indicated that genes involved in DNA repair, such as CHEK2, ATM, BRIP and PALB2, are associated with moderate risk. Therefore, all of these known genes account for only 25% of the familial aggregation cases. Recently, genome wide association studies (GWAS) in BC revealed single nucleotide polymorphisms (SNPs) in five novel genes associated to susceptibility: TNRC9, FGFR2, MAP3K1, H19 and lymphocyte-specific protein 1 (LSP1). The most strongly associated SNP was in intron 2 of the FGFR2 gene that is amplified and overexpressed in 5-10% of BC. rs3803662 of TNRC9 gene has been shown to be the SNP with the strongest association with BC, in particular, this polymorphism seems to be correlated with bone metastases and estrogen receptor positivity. Relevant data indicate that SNP rs889312 in MAP3K1 is correlated with BC susceptibility only in BRCA2 mutation carriers, but is not associated with an increased risk in BRCA1 carriers. Finally, different SNPs in LSP1 and H19 and in minor genes probably were associated with BC risk. New susceptibility allelic variants associated with BC risk were recently discovered including potential causative genes involved in regulation of cell cycle, apoptosis, metabolism and mitochondrial functions. In conclusion, the identification of disease susceptibility loci may lead to a better understanding of the biological mechanism for BC to improve prevention, early detection and treatment.

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“…Human chromosomal region 8q24 has been associated with many types of solid-tumor cancer, including cancers of the breast [1-5], prostate [6-10], bladder [11], colon [12-17], lung [18,19], ovaries [20], pancreas [21], and brain [22,23] (Additional file 1). The majority of these associations lie at approximately 128 Mb on chromosome 8, with one prominently associated SNP, rs6983267, shown to interact with the proto-oncogene c-MYC (128.82 Mb) [1,24].…”

Section: Introductionmentioning

confidence: 99%

Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development

et al. 2011

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BackgroundHuman chromosomal region 8q24 contains several genes which could be functionally related to cancer, including the proto-oncogene c-MYC. However, the abundance of associations around 128 Mb on chromosome 8 could mask the appearance of a weaker, but important, association elsewhere on 8q24.MethodsIn this study, we completed a meta-analysis of results from nine genome-wide association studies for seven types of solid-tumor cancers (breast, prostate, pancreatic, lung, ovarian, colon, and glioma) to identify additional associations that were not apparent in any individual study.ResultsFifteen SNPs in the 8q24 region had meta-analysis p-values < 1E-04. In particular, the region consisting of 120,576,000-120,627,000 bp contained 7 SNPs with p-values < 1.0E-4, including rs6993464 (p = 1.25E-07). This association lies in the region between two genes, NOV and ENPP2, which have been shown to play a role in tumor development and motility. An additional region consisting of 5 markers from 128,478,000 bp - 128,524,000 (around gene POU5F1B) had p-values < 1E-04, including rs6983267, which had the smallest p-value (p = 6.34E-08). This result replicates previous reports of association between rs6983267 and prostate and colon cancer.ConclusionsFurther research in this area is warranted as these results demonstrate that the chromosomal region 8q24 may contain a locus that influences general cancer susceptibility between 120,576 and 120,630 kb.

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Low penetrance breast cancer predisposition SNPs are site specific

Cited by 36 publications

References 36 publications

Increased risk of breast cancer in individuals carrying the TNRC9 rs3803662 C>T polymorphism: a meta-analysis of case-control studies

Increased risk of breast cancer in individuals carrying the TNRC9 rs3803662 C>T polymorphism: a meta-analysis of case-control studies

Breast cancer genome-wide association studies: there is strength in numbers

Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development

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