Association between rs120963, rs152451, rs249935, rs447529, rs8053188, and rs16940342 Polymorphisms in the &lt;b&gt;&lt;i&gt;PALB2&lt;/i&gt;&lt;/b&gt; Gene and Breast Cancer Susceptibility: A Meta-Analysis

Wu, Yayun; Dong, Xiaoqiang; Wang, Yongpan; Wang, Quan; Gu, Haiqing; Huang, Weiqiang

doi:10.1159/000492827

Cited by 4 publications

(3 citation statements)

References 15 publications

(13 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our results align with research study conducted in South American and Turkey population [26,42]. Furthermore a meta-analysis study also supported our result indicating non-signi cant association of rs152451 with breast cancer risk [43]. Moreover, family based study performed in Australian population signi es the potential role of (rs152451) in familial breast cancer [24].…”

Section: Discussionsupporting

confidence: 91%

Genetics risk assessment of PALB2 polymorphism (rs249954 and rs152451) with breast cancer susceptibility among the Pashtun population of Khyber Pakhtunkhwa, Pakistan

Gul,

Khan,

Khan

et al. 2024

Preprint

View full text Add to dashboard Cite

The partner and localizer of BRCA2 (PALB2) gene play an important role in DNA damage repair and control of many biological processes. The occurrence of specific genetic variations, known as single nucleotide polymorphisms (SNPs), in the PALB2 gene has been identified as a factor contributing to an increased susceptibility to breast cancer. The SNPs in PALB2 (rs249954 and rs152451) are identified and associated with breast cancer risk, however its role remains unknown in the Pashtun ethnic group, making it necessary to explore in this population. This case-controls study included 100 breast cancer patients and 100 healthy controls. The SNPs genotyping was performed using amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR). The statistical analysis revealed a significant association between the risk allele of rs249954 and an elevated breast cancer risk (P = 0.0001), while rs152451 did not exhibit a significant association (P = 0.07). Heterozygous genotype of rs249954 was linked to increased breast cancer risk (P = 0.0001), whereas rs152451 did not show a significant association (P = 0.08). Mutant genotypes of both the SNPs correlated positively with breast cancer risk (P = 0.002, P = 0.042). Additionally, rs249954 exhibited significant association with Nodal status (P=0.01), Metastasis (P=0.01) and PR status (P=0.01). While PALB2 (rs142451) failed to exhibit significant association with any of the selected demographic and clinical parameters. In conclusion, the risk allele and both the heterozygous and homozygous genotypes of rs249954 were associated with an increased risk of breast cancer, whereas only homozygous mutant genotype of rs152451 exhibited significant association. However, further studies with larger datasets and comprehensive genomic analysis are necessary to validate these findings and explore associations with other relevant SNPs.

show abstract

Section: Discussionsupporting

confidence: 91%

Genetics risk assessment of PALB2 polymorphism (rs249954 and rs152451) with breast cancer susceptibility among the Pashtun population of Khyber Pakhtunkhwa, Pakistan

Gul,

Khan,

Khan

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…The intronic variant rs249954 on the PALB2 gene has been found associated with the breast cancer risk in Chinese population, however has no association with breast cancer in the population under study [23]. The variant rs664677 in the DNA damage response gene ATM though not associated in our population, previously has been reported to be associated with breast cancer and lung cancer risk in Asian people [24].…”

Section: Genetic Variants Not Associated With Bc In the Population Uncontrasting

confidence: 48%

MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population

Bakshi

Nagpal

Sharma³

et al. 2020

BMC Cancer

View full text Add to dashboard Cite

Background Breast Cancer (BC) is associated with inherited gene mutations. High throughput genotyping of BC samples has led to the identification and characterization of biomarkers for the diagnosis of BC. The most common genetic variants studied are SNPs (Single Nucleotide Polymorphisms) that determine susceptibility to an array of diseases thus serving as a potential tool for identifying the underlying causes of breast carcinogenesis. Methods SNP genotyping employing the Agena MassARRAY offers a robust, sensitive, cost-effective method to assess multiple SNPs and samples simultaneously. In this present study, we analyzed 15 SNPs of 14 genes in 550 samples (150 cases and 400 controls). We identified four SNPs of genes TCF21, SLC19A1, DCC, and ERCC1 showing significant association with BC in the population under study. Results The SNPs were rs12190287 (TCF21) having OR 1.713 (1.08–2.716 at 95% CI) p-value 0.022 (dominant), rs1051266 (SLC19A1) having OR 3.461 (2.136–5.609 at 95% CI) p-value 0.000000466 (dominant), rs2229080 (DCC) having OR 0.6867 (0.5123–0.9205 at 95% CI) p-value 0.0116 (allelic) and rs2298881 (ERCC1) having OR 0.669 (0.46–0.973 at 95% CI), p-value 0.035 (additive) respectively. The in-silico analysis was further used to fortify the above findings. Conclusion It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.

show abstract

“…Along these lines, variations in tumor suppressor genes occurring in H3K4me3 domains may alter the accessibility of genes for transcription and promote cancer development and progression. Previous studies investigating PALB2 _ rs120963 have reported increased breast cancer risk associated with this variant [ 50 , 51 ]. Comparison of allele frequency that we have conducted showed statistically significant differences between the Tunisian population and those of European and African ancestries.…”

Section: Discussionmentioning

confidence: 99%

Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population

et al. 2022

View full text Add to dashboard Cite

Significant advances have been made to understand the genetic basis of breast cancer. High, moderate and low penetrance variants have been identified with inter-ethnic variability in mutation frequency and spectrum. Genome wide association studies (GWAS) are widely used to identify disease-associated SNPs. Understanding the functional impact of these risk-SNPs will help the translation of GWAS findings into clinical interventions. Here we aim to characterize the genetic patterns of high and moderate penetrance breast cancer susceptibility genes and to assess the functional impact of non-coding SNPs. We analyzed BRCA1/2, PTEN, STK11, TP53, ATM, BRIP1, CHEK2 and PALB2 genotype data obtained from 135 healthy participants genotyped using Affymetrix Genome-Wide Human SNP-Array 6.0. Haplotype analysis was performed using Haploview.V4.2 and PHASE.V2.1. Population structure and genetic differentiation were assessed using principal component analysis (PCA) and fixation index (FST). Functional annotation was performed using In Silico web-based tools including RegulomeDB and VARAdb. Haplotype analysis showed distinct LD patterns with high levels of recombination and haplotype blocks of moderate to small size. Our findings revealed also that the Tunisian population tends to have a mixed origin with European, South Asian and Mexican footprints. Functional annotation allowed the selection of 28 putative regulatory variants. Of special interest were BRCA1_ rs8176318 predicted to alter the binding sites of a tumor suppressor miRNA hsa-miR-149 and PALB2_ rs120963 located in tumorigenesis-associated enhancer and predicted to strongly affect the binding of P53. Significant differences in allele frequencies were observed with populations of African and European ancestries for rs8176318 and rs120963 respectively. Our findings will help to better understand the genetic basis of breast cancer by guiding upcoming genome wide studies in the Tunisian population. Putative functional SNPs may be used to develop an efficient polygenic risk score to predict breast cancer risk leading to better disease prevention and management.

show abstract

Association between rs120963, rs152451, rs249935, rs447529, rs8053188, and rs16940342 Polymorphisms in the <b><i>PALB2</i></b> Gene and Breast Cancer Susceptibility: A Meta-Analysis

Cited by 4 publications

References 15 publications

Genetics risk assessment of PALB2 polymorphism (rs249954 and rs152451) with breast cancer susceptibility among the Pashtun population of Khyber Pakhtunkhwa, Pakistan

Genetics risk assessment of PALB2 polymorphism (rs249954 and rs152451) with breast cancer susceptibility among the Pashtun population of Khyber Pakhtunkhwa, Pakistan

MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population

Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population

Contact Info

Product

Resources

About