Risk association of RANKL and OPG gene polymorphism with breast cancer to bone metastasis in Pashtun population of Khyber Pakhtunkhwa, Pakistan

Hayat, Faiza; Khan, Najeeb Ullah; Khan, Aakif Ullah; Ahmad, Iftikhar; Alamri, Ahmad; Iftikhar, Bushra

doi:10.1371/journal.pone.0276813

Cited by 8 publications

(1 citation statement)

References 31 publications

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“…Consequently, there has been a shift in the disease burden from infectious illnesses to non-communicable diseases, with cancer emerging as a signi cant public health concern in Pakistan [15,16]. Factors like lifestyle changes [17,18], environmental in uences [19,20], genetic predisposition [21,22], and limited access to high-quality healthcare services collectively contribute to the escalating incidence of cancer in Pakistan [23,24]. Understanding these factors is vital to address the growing challenge of cancer and implement effective preventive measures and improved healthcare services.…”

Section: Introductionmentioning

confidence: 99%

WITHDRAWN: Cancer epidemiology in Pakistan

Rashid,

Badar,

Mahmood

2024

Preprint

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Introduction: This research study provides valuable insights into the distribution of malignancies among different population groups, age groups, genders, and geographical regions. Aim: This study aims to identify differences in cancer cases between adults and pediatric populations, analyze behavior distribution by gender and age group, and assess the prevalence of specific cancer types across different demographics. Methods: The study analyzed data from Shaukat Khanum Memorial Cancer Hospital and Research Center (SKMCH&RC) in 2022, examining cancer cases in adults and pediatric patients, behavior distribution, and analytical proportions. It assessed malignancies by gender and age group, identified top 10 prevalent cancers. Results: The study found that among adult patients, 87.93% had malignant cancers, while in pediatric patients, it was 11.99%. Benign and uncertain cases were prevalent in adults (97.78%), with pediatric cases at 2.21%. Punjab and Khyber Pakhtunkhwa had high cancer rates compared to other provinces. The top 10 cancers included breast, colon, rectum & anus, Hodgkin lymphoma, lip & oral cavity, esophagus, prostate, non-Hodgkin's lymphoma, leukemia, kidney, and stomach cancer. Most cases were local or regional (23% and 44.3%, respectively), while distant cases were 20.5%, and 11.2% were unknown. Conclusion: This research study provides insights into cancer distribution, guiding prevention and treatment strategies. It highlights the importance of targeted prevention, early detection, and accurate staging. Valuable for policymakers, health professionals, and researchers, advancing cancer control and patient outcomes.

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Section: Introductionmentioning

confidence: 99%

WITHDRAWN: Cancer epidemiology in Pakistan

Rashid,

Badar,

Mahmood

2024

Preprint

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Estrogen receptor alpha (ESR1) gene polymorphism (rs2234693 and rs2046210) with breast cancer risk in pashtun population of Khyber Pakhtunkhwa

et al. 2023

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Background:Breast cancer susceptibility is greatly in uenced by single nucleotide polymorphisms (SNPs) both in penetrance and nonpenetrance genes. The Estrogen Receptor Alfa (ESR1-rs2234693 and rs2046210) have been reported as risk factor of breast cancer in different ethnic groups with inconsistent results. In this study the association of ESR1 (rs2234693 and rs2046210) with breast cancer risk was investigated in Khyber Pakhtunkhwa patients. Methods:A total of 222 women including 162 breast cancer patients and 60 healthy controls were enrolled in this study. The polymorphism was con rmed using T-ARMS-PCR. Results:Our results revealed that ESR1-rs2234693 risk allele (C) (P = 0.2, OR = 1.34, CI = 0.7 to 2.3) and containing genotypes CC (P = 0.61, OR = 1.50, CI = 0.31 to 7.30) and TC (P = 0.7, OR = 1.11, CI = 0.59 to 2.09) were not associated with the risk of breast cancer. In case of rs2046210, the risk allele A (P = 0.0006, OR = 7.50, CI = 0.77 to 2.33) and corresponding genotypes GA (P = 0.003, OR = 2.44, CI = 1.33 to 4.47) and AA (P = 0.3, OR = 3.15, CI = 1.06 to 9.38) were signi cantly associated with higher risk of breast cancer. Moreover, ESR1-rs2234693 was signi cantly (P < 0.05) associated with family history, stages, PR status, ER status and luminal B. The ESR1-rs2046210 showed signi cant (P ≤ 0.05) association with menstrual status, tumor grade and TNBC. Both the SNPs showed non-signi cant (P > 0.05) association with nulliparity, nodal status, HER2 status, metastasis, HER2 enriched subtype and luminal A. Conclusion:It is concluded that ESR1-rs2234693 is not associated with breast cancer, while rs2046210 is signi cantly associated with the risk of breast cancer in Khyber Pakhtunkhwa population. Further, to con rm the exact situation of ESR1 polymorphism, ESR1 existing and other SNPs need to be checked in diverse data sets.

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Significant association of BRCA1 (rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan

Khan¹,

Khan²,

Ali³

et al. 2023

Mol Biol Rep

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Background: Single Nucleotide polymorphism (SNPs) in BRCA1, BRCA2 and TP53 has been widely associated with breast cancer risk in different ethnicities with inconsistent results. There is no such study conducted so far in the Pashtun population of Khyber Pakhtunkhwa, Pakistan. Therefore, this study was conducted to check BRCA1(rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan.Methods: This study, consisting 140 breast cancer patients and 80 gender and age matched healthy controls were subjected to con rm BRCA1, BRCA2 and TP53 polymorphism. Clinicopathological data and blood samples were taken from all the participants. DNA was extracted and SNPs were con rmed using T-ARMS-PCR protocol. Results:Our data indicated that BRCA1, BRCA2, and TP53 selected SNPs risk allele and risk allele containing genotypes displayed signi cant association (P< 0.05) with breast cancer risk in the Pashtun population of Khyber Pakhtunkhwa, Pakistan. Conclusion: All the three selected SNPs of BRCA1, BRCA2 and TP53 showed signi cant association with breast cancer risk in the Pashtun population of Khyber Pakhtunkhwa, Pakistan. However, more investigation will be required on large data sets to con rm the selected SNPs and other SNPs in the selected and other related genes with the risk of breast cancer.

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Risk association of RANKL and OPG gene polymorphism with breast cancer to bone metastasis in Pashtun population of Khyber Pakhtunkhwa, Pakistan

Cited by 8 publications

References 31 publications

WITHDRAWN: Cancer epidemiology in Pakistan

WITHDRAWN: Cancer epidemiology in Pakistan

Estrogen receptor alpha (ESR1) gene polymorphism (rs2234693 and rs2046210) with breast cancer risk in pashtun population of Khyber Pakhtunkhwa

Significant association of BRCA1 (rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan

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