Predictive accuracy of the breast cancer genetic risk model based on eight common genetic variants: The BACkSIDE study

Danková, Zuzana; Žúbor, Pavol; Grendár, Marian; Zelinová, Katarína; Jagelková, Marianna; Stastny, Igor; Kapinová, Andrea; Vargová, Daniela; Kasajova, Petra; Dvorska, Dana; Kalman, Michal; Danko, Ján; Lasabová, Zora

doi:10.1016/j.jbiotec.2019.04.014

Cited by 4 publications

(9 citation statements)

References 56 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Compared to the prior published meta-analyses, [22,23] we excluded 2 studies on rs3817198 (A > G) [42,43] and 3 articles lacking gene frequencies [70–72] and included 8 new publications. [24–29,51,53] Our findings were consistent with Jianzhou Tang et al [23] ; because of limitations in the inclusion of studies, Min-Bin Chen et al did not conduct a discussion on Asian populations. [22] Our study showed that rs3817198(T > C) could increase the susceptibility to breast carcinoma for persons with variations in the BRCA1 and BRCA2, congruent with the outcomes of Min-Bin Chen.…”

Section: Discussionsupporting

confidence: 88%

“…[73] Our conclusions are more accurate than previous meta-analyses because we excluded some studies rs3817198(A > G) [42][43][44] and studies with incomplete gene frequencies [70,72,74] and included some newly published studies. [24][25][26]28,29,47,53,54] Our study had low heterogeneity, and we performed Metaregression to investigate the reasons for the heterogeneity. Metaregression did not yield significant sources of heterogeneity, with all P values > .05.…”

Section: Discussionmentioning

confidence: 99%

“…[73] Our conclusions are more accurate than previous meta-analyses because we excluded some studies rs3817198(A > G) [42–44] and studies with incomplete gene frequencies [70,72,74] and included some newly published studies. [24–26,28,29,47,53,54]…”

Section: Discussionmentioning

confidence: 99%

“…Numerous clinical studies from 2007 to the present have explored the relationship between this SNP and BC susceptibility. Among the 8 clinical studies in Caucasian populations, [25,28,[45][46][47][48][49]52] 4 showed that rs3817198(T > C) polymorphism was associated with BC risk, [47][48][49]52] with Antoniou et al finding that in BRCA2 mutation carriers, this SNP can lead to an increased risk of BC. [48] In 5 studies on Asians, Li et al and Deng et al found that rs3817198(T > C) polymorphism can increase BC susceptibility, [53,54] and Deng et al's findings were seen in ER-negative patients.…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

The correlation of leukocyte-specific protein 1 (LSP1) rs3817198(T>C) polymorphism with breast cancer: A meta-analysis

Chen¹,

Xiao²,

Li³

et al. 2022

Medicine

View full text Add to dashboard Cite

Background: Multiple studies have investigated the correlation of single nucleotide polymorphisms (SNPs) in leukocyte-specific protein 1 (LSP1) with susceptibility to breast cancer (BC) and have yielded inconsistent conclusions, particularly rs3817198(T > C). Consequently, we performed a meta-analysis to estimate this relationship more comprehensively. Methods: Four databases were utilized to locate eligible publications: PubMed, Embase, Web of Science, and China National Knowledge Infrastructure. This meta-analysis included 14 studies, including 22 reports of 33194 cases and 36661 controls. The relationship of rs3817198 polymorphism with breast cancer was estimated using odds ratios (ORs) with 95% confidence intervals (CIs). The LSP1 co-expression network was constructed by STRING, and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed using DAVIDE. Download TCGA breast cancer mRNA-seq data and analyze the relationship between LSP1 expression and breast cancer chemotherapy sensitivity. Results: The results indicated that rs3817198(T > C) was positively correlated to with breast malignancy (dominant model: OR = 1.11, 95%CI = 1.06–1.17; recessive model: OR = 1.10, 95%CI = 1.04–1.15; heterozygous model: OR = 1.09, 95%CI = 1.04–1.15; homozygous model: OR = 1.18, 95%CI = 1.09–1.28; additive model: OR = 1.09, 95%CI = 1.05–1.13), among Caucasians and Asians. However, rs3817198(T > C) may reduce the risk of breast carcinoma in Africans. Rs3817198(T > C) might result in breast carcinoma in individuals with BRCA1 and BRCA2 variants and can contribute to estrogen receptor (ER)-positive breast carcinoma. The expression of LSP1 was inversely correlated with the IC50 of doxorubicin (P = 8.91e–15, Cor = −0.23), 5-fluorouracil (P = 1.18e–22, Cor = −0.29), and cisplatin (P = 1.35e–42, Cor = −0.40). Conclusion: Our study identified that LSP1 rs3817198 polymorphism might result in breast malignancy, particularly among Caucasians and Asians, but lower breast cancer susceptibility in African populations. The expression of LSP1 was negatively correlated with the IC50 of doxorubicin, 5-fluorouracil, and cisplatin.

show abstract

Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

The correlation of leukocyte-specific protein 1 (LSP1) rs3817198(T>C) polymorphism with breast cancer: A meta-analysis

Chen¹,

Xiao²,

Li³

et al. 2022

Medicine

View full text Add to dashboard Cite

show abstract

“…Compared with other risk assessment models, our PRS model shows higher AUC and detection efficiency in Han Chinese population [44][45][46]. rs3760982-A has the highest coefficients in the model, which locate in the 1.1 kb upstream of KCNN4 genes on chromosome 19q13.31 and has the highest allele frequency(0.86) among LVs.…”

Section: Discussionmentioning

confidence: 89%

A Comprehensive Screening Strategy of Breast Cancer Based on Different Penetrance Susceptibility Genes in Healthy Han Chinese Females

Liu

et al. 2021

Preprint

View full text Add to dashboard Cite

Background: Morbidity and mortality associated with breast cancer (BC) had increased rapidly in China. Early screening and intervention could greatly reduce the risk of hereditary BC. Several risk models had been utilized over the last decades to predict individual BC risk, but most of them didn’t assess the polygenic risk of low-penetrant genes. A novel screening method integrating different penetrance susceptibility genes was eagerly needed.Methods: Twenty-three variants of high and moderate penetrance susceptibility genes (HVs) and twenty loci of low penetrance susceptibility genes (LVs) were selected from previous studies. Genotyping of these mutations were conducted among 3777 healthy Han Chinese women (HCW) and 401 BC subjects. Based on the mutation profiles, we raised a comprehensive screening strategy using HVs and LVs to evaluate the polygenic risk score (PRS) in healthy individuals.Results: Three HVs in BRCA1, BRCA2 and PALB2 genes mutated in the study population, which suggests the necessity of applying genetic determination to healthy HCW. LVs were widely carried in objects and their frequencies differed greatly between HCW and the west population. After quality control and lasso dimension reduction, nineteen of twenty-three LVs were involved to construct a logistic regression model to evaluate the cumulative genetic risk score. The area under curve (AUC), sensitivity and specificity of the model is 0.993, 0.9676 and 0.9617 respectively, indicating that it is robust. Finally, a screening strategy using HVs and LVs was put forward to evaluate the risk of BC in normal objects.Conclusion: The distribution of HVs and LVs differed greatly between Han Chinese females and the west population. A screening strategy combining HVs and LVs showed strong efficacy in distinguishing high risk individuals from healthy women.Trial registration: ChiCTR, ChiCTR2000038558. Registered 24 September 2020 - Retrospectively 37 registered, http://www.chictr.org.cn/showproj.aspx?proj=60543

show abstract

Association of CASP8 polymorphisms and cancer susceptibility: A meta-analysis

Hashemi

Aftabi

Moazeni‐Roodi

et al. 2020

European Journal of Pharmacology

View full text Add to dashboard Cite

Predictive accuracy of the breast cancer genetic risk model based on eight common genetic variants: The BACkSIDE study

Cited by 4 publications

References 56 publications

The correlation of leukocyte-specific protein 1 (LSP1) rs3817198(T>C) polymorphism with breast cancer: A meta-analysis

The correlation of leukocyte-specific protein 1 (LSP1) rs3817198(T>C) polymorphism with breast cancer: A meta-analysis

A Comprehensive Screening Strategy of Breast Cancer Based on Different Penetrance Susceptibility Genes in Healthy Han Chinese Females

Association of CASP8 polymorphisms and cancer susceptibility: A meta-analysis

Contact Info

Product

Resources

About