Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: a case -control study

被引：8

作者：

Trivino, J. C. ^{[1
]}

Ceba, A. ^{[1
]}

Rubio-Solsona, E. ^{[1
]}

Serra, D. ^{[1
]}

Sanchez-Guiu, I. ^{[1
]}

Ribas, G. ^{[1
]}

Rosa, R. ^{[1
]}

Cabo, M. ^{[1
]}

Bernad, L. ^{[1
]}

Pita, G. ^{[2
,3
]}

Gonzalez-Neira, A. ^{[2
,3
]}

Legarda, G. ^{[1
]}

Diaz, J. L. ^{[1
]}

Garcia-Vigara, A. ^{[4
]}

Martinez-Aspas, A. ^{[4
]}

Escrig, M. ^{[5
]}

Bermejo, B. ^{[5
,6
]}

Eroles, P. ^{[5
,6
]}

Ibanez, J. ^{[7
,8
]}

Salas, D. ^{[7
,8
,9
]}

Julve, A. ^{[10
]}

Cano, A. ^{[4
]}

Lluch, A. ^{[5
,6
]}

Minambres, R. ^{[1
]}

Benitez, J. ^{[2
,3
]}

机构：

[1] Sistemas Genom, Ronda Guillermo Marconi 6,Parque Tecnol, Valencia 46980, Spain

[2] Spanish Natl Genotyping Ctr CEGEN, Madrid, Spain

[3] Spanish Natl Canc Ctr CNIO, Human Canc Genet Programme, Melchor Fernandez Almagro 3, Madrid 28029, Spain

[4] Hosp Clin Univ INCLIVA, Obstet & Gynecol Serv, Av Blasco Ibanez 17, Valencia 46010, Spain

[5] Univ Valencia, INCLIVA Biomed Res Inst, Hosp Clin Univ Valencia, Dept Hematol & Med Oncol, Valencia, Spain

[6] Biomed Res Ctr Network Canc CIBERONC, Madrid, Spain

[7] Gen Directorate Publ Hlth, Valencia, Spain

[8] FISABIO Publ Hlth, Valencia Canc & Publ Hlth Area, Valencia, Spain

[9] CIBERESP, CIBER Epidemiol & Salud Publ, Consortium Biomed Res Epidemiol & Publ Hlth, Valencia, Spain

[10] Hosp Clin Univ INCLIVA, Radiol Serv, Av Blasco Ibanez 17, Valencia 46010, Spain

来源：

BMC CANCER | 2020年 / 20卷 / 01期

关键词：

Polygenic risk score; Predictive test; Identification of high risk women; Risk algorithms; GENETIC SUSCEPTIBILITY; PREDICTION; WOMEN; MODELS; MENOPAUSE; MENARCHE; DENSITY;

D O I：

10.1186/s12885-020-07584-9

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

BackgroundIn recent years, the identification of genetic and phenotypic biomarkers of cancer for prevention, early diagnosis and patient stratification has been a main objective of research in the field. Different multivariable models that use biomarkers have been proposed for the evaluation of individual risk of developing breast cancer.MethodsThis is a case control study based on a population-based cohort. We describe and evaluate a multivariable model that incorporates 92 Single-nucleotide polymorphisms (SNPs) (Supplementary Table S1) and five different phenotypic variables and which was employed in a Spanish population of 642 healthy women and 455 breast cancer patients.ResultsOur model allowed us to stratify two groups: high and low risk of developing breast cancer. The 9th decile included 1% of controls vs 9% of cases, with an odds ratio (OR) of 12.9 and a p-value of 3.43E-07. The first decile presented an inverse proportion: 1% of cases and 9% of controls, with an OR of 0.097 and a p-value of 1.86E-08.ConclusionsThese results indicate the capacity of our multivariable model to stratify women according to their risk of developing breast cancer. The major limitation of our analysis is the small cohort size. However, despite the limitations, the results of our analysis provide proof of concept in a poorly studied population, and opens up the possibility of using this method in the routine screening of the Spanish population.

引用

页数：10

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