BMC Med Inform Decis Mak - Can multiple SNP testing in BRCA2 and BRCA1 female carriers be used to improve risk prediction models in conjunction with clinical assessment?

Tópicos

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Resumo

CKGROUND: Several single nucleotide polymorphisms (SNPs) at different loci have been associated with breast cancer susceptibility, accounting for around 10% of the familial component. Recent studies have found direct associations between specific SNPs and breast cancer in BRCA1/2 mutation carriers. Our aim was to determine whether validated susceptibility SNP scores improve the predictive ability of risk models in comparison/conjunction to other clinical/demographic information.METHODS: Female BRCA1/2 carriers were identified from the Manchester genetic database, and included in the study regardless of breast cancer status or age. DNA was extracted from blood samples provided by these women and used for gene and SNP profiling. Estimates of survival were examined with Kaplan-Meier curves. Multivariable Cox proportional hazards models were fit in the separate BRCA datasets and in menopausal stages screening different combinations of clinical/demographic/genetic variables. Nonlinear random survival forests were also fit to identify relevant interactions. Models were compared using Harrell's concordance index (1 - c-index).RESULTS: 548 female BRCA1 mutation carriers and 523 BRCA2 carriers were identified from the database. Median Kaplan-Meier estimate of survival was 46.0 years (44.9-48.1) for BRCA1 carriers and 48.9 (47.3-50.4) for BRCA2. By fitting Cox models and random survival forests, including both a genetic SNP score and clinical/demographic variables, average 1 - c-index values were 0.221 (st.dev. 0.019) for BRCA1 carriers and 0.215 (st.dev. 0.018) for BRCA2 carriers.CONCLUSIONS: Random survival forests did not yield higher performance compared to Cox proportional hazards. We found improvement in prediction performance when coupling the genetic SNP score with clinical/demographic markers, which warrants further investigation.

Resumo Limpo

ckground sever singl nucleotid polymorph snps differ loci associ breast cancer suscept account around famili compon recent studi found direct associ specif snps breast cancer brca mutat carrier aim determin whether valid suscept snp score improv predict abil risk model comparisonconjunct clinicaldemograph informationmethod femal brca carrier identifi manchest genet databas includ studi regardless breast cancer status age dna extract blood sampl provid women use gene snp profil estim surviv examin kaplanmei curv multivari cox proport hazard model fit separ brca dataset menopaus stage screen differ combin clinicaldemographicgenet variabl nonlinear random surviv forest also fit identifi relev interact model compar use harrel concord index cindexresult femal brca mutat carrier brca carrier identifi databas median kaplanmei estim surviv year brca carrier brca fit cox model random surviv forest includ genet snp score clinicaldemograph variabl averag cindex valu stdev brca carrier stdev brca carriersconclus random surviv forest yield higher perform compar cox proport hazard found improv predict perform coupl genet snp score clinicaldemograph marker warrant investig

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