Association of estrogen receptor-alpha A908G (K303R) mutation with breast cancer risk
(2013) In International Journal of Clinical and Experimental Medicine 6(1). p.39-49- Abstract
- Genetic mutations in premalignant breast lesions may have a role in malignancy progression or influence the behavior of subsequent disease. A point mutation in estrogen receptor-alpha (ER-&ALPHA) as A908G (Lys303 -> Arg) was originally involved to hypersensitive to estrogen breast hyperplasia. We detected this mutation among Iranian women with invasive breast cancer. A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-alpha A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing. We detected the 10.7% ER-alpha A908G mutation in the form of heterozygote... (More)
- Genetic mutations in premalignant breast lesions may have a role in malignancy progression or influence the behavior of subsequent disease. A point mutation in estrogen receptor-alpha (ER-&ALPHA) as A908G (Lys303 -> Arg) was originally involved to hypersensitive to estrogen breast hyperplasia. We detected this mutation among Iranian women with invasive breast cancer. A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-alpha A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing. We detected the 10.7% ER-alpha A908G mutation in the form of heterozygote genotype only among cancer patients (chi(2)=22.752, P=0.00). The allelic frequency of mutant allele AGG in codon 303 was significantly (chi(2)=29.709, P=0.001) higher in patients with the family history of breast cancer (28.9%) than those without the family history of breast cancer (1.9%). Our data suggest that ER-alpha codon 303 mutation is correlated with various aspects of breast cancer in Iran. ER-alpha genotype might represent a surrogate marker for predicting breast cancer developing later in life. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3987155
- author
- Abbasi, Sakineh ; Rasouli, Mina ; Nouri, Mehrnaz LU and Kalbasi, Samira
- organization
- publishing date
- 2013
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Breast cancer, mutation, estrogen receptor, PCR-SSCP, lymph node, metastasis
- in
- International Journal of Clinical and Experimental Medicine
- volume
- 6
- issue
- 1
- pages
- 39 - 49
- publisher
- e-Century Publishing
- external identifiers
-
- wos:000318543100005
- scopus:84870372461
- ISSN
- 1940-5901
- language
- English
- LU publication?
- yes
- id
- 92cdf211-a1a2-4548-8668-bb9cad5bc3e9 (old id 3987155)
- alternative location
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3515972/
- date added to LUP
- 2016-04-01 14:17:29
- date last changed
- 2025-10-14 10:58:08
@article{92cdf211-a1a2-4548-8668-bb9cad5bc3e9,
abstract = {{Genetic mutations in premalignant breast lesions may have a role in malignancy progression or influence the behavior of subsequent disease. A point mutation in estrogen receptor-alpha (ER-&ALPHA) as A908G (Lys303 -> Arg) was originally involved to hypersensitive to estrogen breast hyperplasia. We detected this mutation among Iranian women with invasive breast cancer. A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-alpha A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing. We detected the 10.7% ER-alpha A908G mutation in the form of heterozygote genotype only among cancer patients (chi(2)=22.752, P=0.00). The allelic frequency of mutant allele AGG in codon 303 was significantly (chi(2)=29.709, P=0.001) higher in patients with the family history of breast cancer (28.9%) than those without the family history of breast cancer (1.9%). Our data suggest that ER-alpha codon 303 mutation is correlated with various aspects of breast cancer in Iran. ER-alpha genotype might represent a surrogate marker for predicting breast cancer developing later in life.}},
author = {{Abbasi, Sakineh and Rasouli, Mina and Nouri, Mehrnaz and Kalbasi, Samira}},
issn = {{1940-5901}},
keywords = {{Breast cancer; mutation; estrogen receptor; PCR-SSCP; lymph node; metastasis}},
language = {{eng}},
number = {{1}},
pages = {{39--49}},
publisher = {{e-Century Publishing}},
series = {{International Journal of Clinical and Experimental Medicine}},
title = {{Association of estrogen receptor-alpha A908G (K303R) mutation with breast cancer risk}},
url = {{http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3515972/}},
volume = {{6}},
year = {{2013}},
}