2q35-rs13387042 variant and the risk of breast cancer: a case–control study

Abolfazl Nesaei; Zari Naderi Ghale-noie; Asma Khorshid Shamshiri; Fahimeh Afzaljavan; Mahdi Rivandi; Amir Tajbakhsh; Fatemeh Homaei Shandiz; Alireza Pasdar

doi:10.1007/s11033-022-07195-6

2q35-rs13387042 variant and the risk of breast cancer: a case–control study

Abolfazl Nesaei, Zari Naderi Ghale-noie, Asma Khorshid Shamshiri, Fahimeh Afzaljavan, Mahdi Rivandi, Amir Tajbakhsh, Fatemeh Homaei Shandiz, Alireza Pasdar^*

^*Corresponding author for this work

Applied Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

Background: Breast Cancer is the most frequent neoplasm diagnosed among women worldwide. Genetic background and lifestyle/environment play a significant role in the disease etiology. According to Genome-wide association studies, some single-nucleotide polymorphisms such as 2q35-rs13387042–(G/A) have been introduced to be associated with breast cancer risk and features. In this study, we aimed to evaluate the association between this variant and the risk of breast cancer in a cohort of Iranian women. Methods: Demographics and clinical information were collected by interview and using patients’ medical records, respectively. DNA was extracted from 506 blood samples, including 184 patients and 322 controls, and genotyping was performed using allele specific-PCR. SPSS v16 was used for statistical analysis. Result: Statistically significant association was observed between AA genotype and disease risk in all patients [p_adj = 0.048; OR_adj = 2.13, 95% CI (1.01–4.50)] and also ER-positive breast cancers [p_adj = 0.015; OR_adj = 2.12, 95% CI (1.16–3.88)]. There was no association between rs13387042 and histopathological characteristics of the disease. Furthermore, overall survival was not statistically associated with genotype and allelic models even after adjustment for stage and receptor status (p > 0.05). Conclusion: There is a statistically significant association between 2q35-rs13387042 and breast cancer risk. rs13387042-AA genotype might be a risk-conferring factor for breast cancer development in the Iranian population. However, further consideration is suggested to confirm its role in risk assessment and probable association with other genetic markers.

Original language	English
Pages (from-to)	3549-3557
Number of pages	9
Journal	Molecular Biology Reports
Volume	49
Issue number	5
DOIs	https://doi.org/10.1007/s11033-022-07195-6
Publication status	Published - 20 Apr 2022

Bibliographical note

Acknowledgements
The authors thank all participants who took part in this study. We would also like to thank Mashhad University of Medical Sciences, Omid and Imam Reza hospitals who supported this project.

Funding
This work was based on the Master of Science thesis of Mr. Abolfazl Nesaei and partly was financially supported by Mashhad University of Medical Sciences under Grant 931028.

Data Availability Statement

The analyzed data sets generated during the present study are not available due to the university rules and regulations, however, upon written request, subjected to approval by the university, some parts may be available.

Keywords

Breast cancer
ER-positive breast cancer
Polymorphism
rs13387042
2q35 locus

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s11033-022-07195-6

Cite this

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title = "2q35-rs13387042 variant and the risk of breast cancer: a case–control study",

abstract = "Background: Breast Cancer is the most frequent neoplasm diagnosed among women worldwide. Genetic background and lifestyle/environment play a significant role in the disease etiology. According to Genome-wide association studies, some single-nucleotide polymorphisms such as 2q35-rs13387042–(G/A) have been introduced to be associated with breast cancer risk and features. In this study, we aimed to evaluate the association between this variant and the risk of breast cancer in a cohort of Iranian women. Methods: Demographics and clinical information were collected by interview and using patients{\textquoteright} medical records, respectively. DNA was extracted from 506 blood samples, including 184 patients and 322 controls, and genotyping was performed using allele specific-PCR. SPSS v16 was used for statistical analysis. Result: Statistically significant association was observed between AA genotype and disease risk in all patients [padj = 0.048; ORadj = 2.13, 95% CI (1.01–4.50)] and also ER-positive breast cancers [padj = 0.015; ORadj = 2.12, 95% CI (1.16–3.88)]. There was no association between rs13387042 and histopathological characteristics of the disease. Furthermore, overall survival was not statistically associated with genotype and allelic models even after adjustment for stage and receptor status (p > 0.05). Conclusion: There is a statistically significant association between 2q35-rs13387042 and breast cancer risk. rs13387042-AA genotype might be a risk-conferring factor for breast cancer development in the Iranian population. However, further consideration is suggested to confirm its role in risk assessment and probable association with other genetic markers.",

keywords = "Breast cancer, ER-positive breast cancer, Polymorphism, rs13387042, 2q35 locus",

author = "Abolfazl Nesaei and {Naderi Ghale-noie}, Zari and {Khorshid Shamshiri}, Asma and Fahimeh Afzaljavan and Mahdi Rivandi and Amir Tajbakhsh and {Homaei Shandiz}, Fatemeh and Alireza Pasdar",

note = "Acknowledgements The authors thank all participants who took part in this study. We would also like to thank Mashhad University of Medical Sciences, Omid and Imam Reza hospitals who supported this project. Funding This work was based on the Master of Science thesis of Mr. Abolfazl Nesaei and partly was financially supported by Mashhad University of Medical Sciences under Grant 931028.",

year = "2022",

month = apr,

day = "20",

doi = "10.1007/s11033-022-07195-6",

language = "English",

volume = "49",

pages = "3549--3557",

journal = "Molecular Biology Reports",

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T1 - 2q35-rs13387042 variant and the risk of breast cancer

T2 - a case–control study

AU - Nesaei, Abolfazl

AU - Naderi Ghale-noie, Zari

AU - Khorshid Shamshiri, Asma

AU - Afzaljavan, Fahimeh

AU - Rivandi, Mahdi

AU - Tajbakhsh, Amir

AU - Homaei Shandiz, Fatemeh

AU - Pasdar, Alireza

N1 - Acknowledgements The authors thank all participants who took part in this study. We would also like to thank Mashhad University of Medical Sciences, Omid and Imam Reza hospitals who supported this project. Funding This work was based on the Master of Science thesis of Mr. Abolfazl Nesaei and partly was financially supported by Mashhad University of Medical Sciences under Grant 931028.

PY - 2022/4/20

Y1 - 2022/4/20

N2 - Background: Breast Cancer is the most frequent neoplasm diagnosed among women worldwide. Genetic background and lifestyle/environment play a significant role in the disease etiology. According to Genome-wide association studies, some single-nucleotide polymorphisms such as 2q35-rs13387042–(G/A) have been introduced to be associated with breast cancer risk and features. In this study, we aimed to evaluate the association between this variant and the risk of breast cancer in a cohort of Iranian women. Methods: Demographics and clinical information were collected by interview and using patients’ medical records, respectively. DNA was extracted from 506 blood samples, including 184 patients and 322 controls, and genotyping was performed using allele specific-PCR. SPSS v16 was used for statistical analysis. Result: Statistically significant association was observed between AA genotype and disease risk in all patients [padj = 0.048; ORadj = 2.13, 95% CI (1.01–4.50)] and also ER-positive breast cancers [padj = 0.015; ORadj = 2.12, 95% CI (1.16–3.88)]. There was no association between rs13387042 and histopathological characteristics of the disease. Furthermore, overall survival was not statistically associated with genotype and allelic models even after adjustment for stage and receptor status (p > 0.05). Conclusion: There is a statistically significant association between 2q35-rs13387042 and breast cancer risk. rs13387042-AA genotype might be a risk-conferring factor for breast cancer development in the Iranian population. However, further consideration is suggested to confirm its role in risk assessment and probable association with other genetic markers.

AB - Background: Breast Cancer is the most frequent neoplasm diagnosed among women worldwide. Genetic background and lifestyle/environment play a significant role in the disease etiology. According to Genome-wide association studies, some single-nucleotide polymorphisms such as 2q35-rs13387042–(G/A) have been introduced to be associated with breast cancer risk and features. In this study, we aimed to evaluate the association between this variant and the risk of breast cancer in a cohort of Iranian women. Methods: Demographics and clinical information were collected by interview and using patients’ medical records, respectively. DNA was extracted from 506 blood samples, including 184 patients and 322 controls, and genotyping was performed using allele specific-PCR. SPSS v16 was used for statistical analysis. Result: Statistically significant association was observed between AA genotype and disease risk in all patients [padj = 0.048; ORadj = 2.13, 95% CI (1.01–4.50)] and also ER-positive breast cancers [padj = 0.015; ORadj = 2.12, 95% CI (1.16–3.88)]. There was no association between rs13387042 and histopathological characteristics of the disease. Furthermore, overall survival was not statistically associated with genotype and allelic models even after adjustment for stage and receptor status (p > 0.05). Conclusion: There is a statistically significant association between 2q35-rs13387042 and breast cancer risk. rs13387042-AA genotype might be a risk-conferring factor for breast cancer development in the Iranian population. However, further consideration is suggested to confirm its role in risk assessment and probable association with other genetic markers.

KW - Breast cancer

KW - ER-positive breast cancer

KW - Polymorphism

KW - rs13387042

KW - 2q35 locus

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DO - 10.1007/s11033-022-07195-6

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SN - 0301-4851

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EP - 3557

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JF - Molecular Biology Reports

IS - 5

ER -

2q35-rs13387042 variant and the risk of breast cancer: a case–control study

Abstract

Bibliographical note

Data Availability Statement

Keywords

UN SDGs

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