Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes

Curtit, Elsa; Pivot, Xavier; Henriques, Julie; Paget‐Bailly, Sophie; Fumoleau, P.; Rios, María; Bonnefoi, Hervé; Soulié, P; Jouannaud, Christelle; Bourgeois, H.; Pierga, J-Y; Tennevet, Isabelle; Trillet‐Lenoir, Véronique; Kerbrat, Pierre; Petit, Thomas; Bachelot, Thomas; Deleuze, J-F; Pauporté, Iris; Romieu, Gilles; Cox, David

doi:10.1093/annonc/mdw364.34

Cited by 3 publications

(3 citation statements)

References 32 publications

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“…Similarly, two studies reported that a high PRS was associated with more favorable tumor characteristics including lowergrade ER-positive breast cancer, smaller size tumor, and less likely to be diagnosed with distant metastasis [45,53]. However, these findings have not always been consistently replicated in other studies [54].…”

Section: Polygenic Risk and Breast Cancer Classificationmentioning

confidence: 98%

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

et al. 2020

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Polygenic factors are estimated to account for an additional 18% of the familial relative risk of breast cancer, with those at the highest level of polygenic risk distribution having a least a twofold increased risk of the disease. Polygenic testing promises to revolutionize health services by providing personalized risk assessments to women at high-risk of breast cancer and within population breast screening programs. However, implementation of polygenic testing needs to be considered in light of its current limitations, such as limited risk prediction for women of non-European ancestry. This article aims to provide a comprehensive review of the evidence for polygenic breast cancer risk, including the discovery of variants associated with breast cancer at the genome-wide level of significance and the use of polygenic risk scores to estimate breast cancer risk. We also review the different applications of this technology including testing of women from high-risk breast cancer families with uninformative genetic testing results, as a moderator of monogenic risk, and for population screening programs. Finally, a potential framework for introducing testing for polygenic risk in familial cancer clinics and the potential challenges with implementing this technology in clinical practice are discussed.

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Section: Polygenic Risk and Breast Cancer Classificationmentioning

confidence: 98%

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

et al. 2020

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“…The OR-GRS was calculated in the same way as DL-GRS, but the sources of weight (log(OR)) were different. The OR were usually derived from meta-analysis or genomewide association studies (30)(31)(32)(33) , that is, it relied on external data rather than original data. Similarly, The EV-GRS method also relied on external data (34) .…”

Section: Discussionmentioning

confidence: 99%

Prediction model for the efficacy of folic acid therapy on hyperhomocysteinaemia based on genetic risk score methods

Zhang

Liu

et al. 2019

Br J Nutr

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No risk assessment tools for the efficacy of folic acid treatment for hyperhomocysteinaemia (HHcy) have been developed. We aimed to use two common genetic risk score (GRS) methods to construct prediction models for the efficacy of folic acid therapy on HHcy, and the best gene–environment prediction model was screened out. A prospective cohort study enrolling 638 HHcy patients was performed. We used a logistic regression model to estimate the associations of two GRS methods with the efficacy. Performances were compared using area under the receiver operating characteristic curve (AUC). The simple count genetic risk score (SC-GRS) and weighted genetic risk score (wGRS) were found to be independently associated with the efficacy of folic acid treatment for HHcy. Using the SC-GRS, per risk allele increased with a 1·46-fold increased failure risk (P < 0·001) after adjustment for traditional risk factors, including age, sex, BMI, smoking, alcohol consumption, history of diabetes, history of hypertension, history of hyperlipidaemia, history of stroke and history of CHD. When used the wGRS, the association was strengthened (OR = 2·08, P < 0·001). Addition of the SC-GRS and wGRS to the traditional risk model significantly improved the predictive ability by AUC (0·859). A precise gene–environment predictive model with good performance was developed for predicting the treatment failure rate of folic acid therapy for HHcy.

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“…Breast cancer is a heterogeneous and polygenic disease, and breast cancer susceptibility SNPs and genes are closely related to molecular subtype and clinical phenotypes (8)(9)(10). However, for many SNPs, evidence of an association with cancer is often weak, and accurate estimates of the cancer risks associated with variants are often not available (11).…”

Section: Introductionmentioning

confidence: 99%

rs12537 Is a Novel Susceptibility SNP Associated With Estrogen Receptor Positive Breast Cancer in Chinese Han Population

Chen

et al. 2021

Front. Med.

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Genetic testing is widely used in breast cancer and has identified a lot of susceptibility genes and single nucleotide polymorphisms (SNPs). However, for many SNPs, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are not in place. A recent genome-wide long non-coding RNA (lncRNA) association study in Chinese Han has verified a genetic association between rs12537 and breast cancer. This study is aimed at investigating the association between rs12537 and the phenotype. We collected the clinical information of 5,634 breast cancer patients and 6,308 healthy controls in the early study. And χ2 test was used for the comparison between different groups in genotype. The frequency of genotypic distribution among SNP rs12537 has no statistically significant correlation with family history (p = 0.8945), menopausal status (p = 0.3245) or HER-2 (p = 0.2987), but it is statistically and significantly correlated with ER (p = 0.004006) and PR (p = 0.01379). Most importantly, compared to the healthy control, rs12537 variant is significantly correlated with ER positive patients and the p-value has reached the level of the whole genome (p = 1.66E-08 <5.00E-08). Furthermore, we found rs12537 associated gene MTMR3 was lower expressed in breast cancer tissues but highly methylated. In conclusion, our findings indicate that rs12537 is a novel susceptibility gene in ER positive breast cancer in Chinese Han population and it may influence the methylation of MTMR3.

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Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes

Cited by 3 publications

References 32 publications

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

Prediction model for the efficacy of folic acid therapy on hyperhomocysteinaemia based on genetic risk score methods

rs12537 Is a Novel Susceptibility SNP Associated With Estrogen Receptor Positive Breast Cancer in Chinese Han Population

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