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

Shahzad, Savera; Khan, Najeeb Ullah; Sombal, Wafa; Shah, Rizwan Ullah; Khan, Aakif Ullah; Iqbal, Aqib; Munir, Iqbal

doi:10.1007/s11033-022-08198-z

Cited by 4 publications

(2 citation statements)

References 28 publications

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“…The higher sensitivity of ultrasound can be attributed to its ability to visualize soft tissue structures and provide real-time imaging. This makes it especially useful in detecting lesions in younger women or those with dense breast tissue, where mammography may be less effective (Shahzad et al, 2023). Additionally, ultrasound can aid in distinguishing between solid and cystic lesions, providing valuable information for further diagnostic evaluation.…”

Section: Discussionmentioning

confidence: 99%

Ultrasound vs. Mammography in Evaluating Suspicious Breast Lesions

AKHUND,

MEMON,

QAMBER

et al. 2023

Biol Clin Sci Res J

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This study aimed to compare the effectiveness of ultrasound and mammography in evaluating suspicious breast lesions and determine their respective diagnostic capabilities. A retrospective analysis was conducted at Khyber Teaching Hospital Peshawar over 6 months, from March 2021 to September 2021. The study included 100 patients with suspicious breast lesions who underwent ultrasound and mammography examinations. The demographic data, including age and breast density, were recorded. Both imaging modalities' diagnostic accuracy, sensitivity, specificity, and positive predictive value were calculated. Statistical analysis was performed using appropriate tests. The analysis included 100 patients with an average age of 51.3 years. The breast density distribution was as follows: 20% dense, 35% scattered fibroglandular, 30% heterogeneously dense, and 15% extremely dense. Ultrasound demonstrated higher sensitivity (75%) than mammography (65%) in the study population. When stratified by age, ultrasound had higher sensitivity in all age groups, with the highest sensitivity observed in patients aged >60 years (85%). Regarding breast density, ultrasound showed higher sensitivity across all density categories, particularly in patients with dense breasts (80%) and heterogeneously dense breasts (85%). Our study findings suggest that ultrasound is a valuable imaging modality in evaluating suspicious breast lesions, offering higher sensitivity than mammography, especially in patients with dense breast tissue. Incorporating ultrasound as an adjunct to mammography can improve diagnostic accuracy and aid in the early detection of breast cancer. These results support the growing recognition of ultrasound as an important tool in breast cancer diagnosis and highlight the need for further research and collaboration to optimize its utilization in clinical practice.

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Section: Discussionmentioning

confidence: 99%

Ultrasound vs. Mammography in Evaluating Suspicious Breast Lesions

AKHUND,

MEMON,

QAMBER

et al. 2023

Biol Clin Sci Res J

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“…DNA isolation, SNPs Genotyping and Gel electrophoresis DNA extraction and SNP genotyping was done with the procedure previously adopted in our lab [36,37]. Primer blast software was used to design the speci c primers for each SNP (Table 1).…”

Section: Dna Isolation Snps Genotyping and Gel Electrophoresismentioning

confidence: 99%

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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