Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study

Fletcher, Olivia; Johnson, Nichola; Orr, Nick; Hosking, Fay J.; Gibson, Lorna; Walker, Kate; Zélénika, Diana; Gut, Ivo; Heath, Simon; Palles, Claire; Coupland, Ben; Broderick, Peter; Schoemaker, Minouk J.; Jones, Michael E.; Williamson, Jon; Chilcott-Burns, Sarah; Tomczyk, Katarzyna; Simpson, Gemma; Jacobs, Kevin B.; Chanock, Stephen J.; Hunter, David J.; Tomlinson, Ian; Swerdlow, Anthony; Ashworth, Alan; Ross, Gillian; dos‐Santos‐Silva, Isabel; Lathrop, Mark; Houlston, Richard S.; Peto, Julian

doi:10.1093/jnci/djq563

Cited by 212 publications

(138 citation statements)

References 33 publications

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“…Our findings with 6q25.1-rs3734805 and 6q25.1-rs9383938 are consistent with the GWAS study on breast cancer where these variants were first reported (28) and with a subsequent case-control study of 6q25.1 (55). A meta-analysis of five GWAS of MD within the Marker Of DEnsity (MODE) consortium, examined 23 of the established breast cancer variants with MD and reported a significant association of rs2046210 -ESR1 and MD (18).…”

Section: Consistency and Inconsistency Of Overall Findings With Previsupporting

confidence: 88%

“…Genome-wide association studies (GWAS) and candidate gene studies have identified more than 75 SNPs that may be associated with risk of breast cancer in Caucasians (20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34). It has been estimated that there is about a 10% overlap in the genetic factors that influence breast cancer risk and those that determine variation in MD (5).…”

Section: Introductionmentioning

confidence: 99%

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Breast Cancer Susceptibility Variants and Mammographic Density Phenotypes in Norwegian Postmenopausal Women

Ellingjord-Dale

Grotmol

Lee

et al. 2014

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Mammographic density (MD) is one of the strongest known breast cancer risk factors. Twin studies have suggested that a large part of the variation in MD is genetically determined. We hypothesized that breast cancer susceptibility variants may affect MD, and that their effects may be modified by nongenetic factors.Methods: We assessed MD, using a computer-assisted method, on 2,348 postmenopausal Caucasian women (50-69 years) who participated in the Norwegian Breast Cancer Screening Program (NBCSP) in 2004 or 2006-07. We used linear regression (additive models) to determine the association between each SNP and MD, adjusting for age, body mass index (BMI), and study. We evaluated MD associations with 17 established breast cancer SNPs, overall, and by strata defined by non-genetic factors.Results: Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically significantly associated with percent MD (P ¼ 0.019 and 0.03, respectively), with the 6q25.1-rs9383938 association being consistent with the SNP effect on breast cancer risk. The effect of 6q25.1-rs3734805 on percent MD varied between parous and nulliparous women (P interaction ¼ 0.02), whereas the effects of 9q31.2-rs865686 and MRPS30:FGF10-rs4415084 differed across strata of BMI (P interaction ¼ 0.01 and 0.005, respectively). There was no evidence of effect modification by estrogen and progestin therapy use or alcohol consumption.Conclusion: This study provides novel evidence of shared genetic risk factors between MD and breast cancer and of possible MD genetic-environmental interactions.Impact: Although the results may be chance findings, they nevertheless highlight the need to investigate interactions with nongenetic factors in studies on the genetics of MD. Cancer Epidemiol Biomarkers Prev; 23(9); 1752-63. Ó2014 AACR.

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Section: Consistency and Inconsistency Of Overall Findings With Previsupporting

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Breast Cancer Susceptibility Variants and Mammographic Density Phenotypes in Norwegian Postmenopausal Women

Ellingjord-Dale

Grotmol

Lee

et al. 2014

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…5 Genome-wide association studies (GWAS) have identified a significant association between some genetic variants and breast cancer risk. [6][7][8][9][10] Among these variants, an intronic variant in the FGFR2 gene is currently identified as one of the most important genetic susceptibility locus in breast cancer. 10 Furthermore, several single-nucleotide polymorphisms (SNPs) in FGFR2 were confirmed to have a high correlation with breast cancer risk.…”

Section: Introductionmentioning

confidence: 99%

Fibroblast growth factor receptors in breast cancer

Wang

Ding

2017

Tumour Biol.

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Fibroblast growth factor receptors are growth factor receptor tyrosine kinases, exerting their roles in embryogenesis, tissue homeostasis, and development of breast cancer. Recent genetic studies have identified some subtypes of fibroblast growth factor receptors as strong genetic loci associated with breast cancer. In this article, we review the recent epidemiological findings and experiment results of fibroblast growth factor receptors in breast cancer. First, we summarized the structure and physiological function of fibroblast growth factor receptors in humans. Then, we discussed the common genetic variations in fibroblast growth factor receptors that affect breast cancer risk. In addition, we also introduced the potential roles of each fibroblast growth factor receptors isoform in breast cancer. Finally, we explored the potential therapeutics targeting fibroblast growth factor receptors for breast cancer. Based on the biological mechanisms of fibroblast growth factor receptors leading to the pathogenesis in breast cancer, targeting fibroblast growth factor receptors may provide new opportunities for breast cancer therapeutic strategies.

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“…5 Genome-wide association studies (GWAS) have identified 14 independent common single nucleotide polymorphisms (SNPs) that show consistent associations with female breast cancer risk. [6][7][8][9][10][11][12][13] To examine whether these variants contribute to breast cancer risk after radiotherapy, we analyzed blood samples from 2 case-control series. The discovery phase comprised 449 women with HL treated with supradiaphragmatic radiotherapy in England and Wales during 1963-2003 at ages Ͻ 36 years: 140 had breast cancer after HL treatment (the "cases") and 309 had had no solid cancer after HL (the "controls").…”

Section: Introductionmentioning

confidence: 99%

FGFR2 genotype and risk of radiation-associated breast cancer in Hodgkin lymphoma

Yussanne

Leeuwen

Cooke

et al. 2012

Blood

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Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study

Abstract: These findings provide further evidence on the role of genetic variation in the etiology of breast cancer. Fine mapping will be needed to identify causal variants and to determine their functional effects.

Cited by 212 publications

References 33 publications

Breast Cancer Susceptibility Variants and Mammographic Density Phenotypes in Norwegian Postmenopausal Women

Breast Cancer Susceptibility Variants and Mammographic Density Phenotypes in Norwegian Postmenopausal Women

Fibroblast growth factor receptors in breast cancer

FGFR2 genotype and risk of radiation-associated breast cancer in Hodgkin lymphoma

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