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Association of estrogen receptor-alpha A908G (K303R) mutation with breast cancer risk

Abbasi, Sakineh; Rasouli, Mina; Nouri, Mehrnaz LU and Kalbasi, Samira (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:
author
organization
publishing date
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 Corporation
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
2013-09-02 11:15:42
date last changed
2019-09-17 02:41:22
@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},
  keyword      = {Breast cancer,mutation,estrogen receptor,PCR-SSCP,lymph node,metastasis},
  language     = {eng},
  number       = {1},
  pages        = {39--49},
  publisher    = {e-Century Publishing Corporation},
  series       = {International Journal of Clinical and Experimental Medicine},
  title        = {Association of estrogen receptor-alpha A908G (K303R) mutation with breast cancer risk},
  volume       = {6},
  year         = {2013},
}