BRCA1 and BRCA2 common mutations in iranian breast cancer patients: a meta analysis.
BACKGROUND
To date several common mutations in BRCA1 and BRCA2 associated with breast cancer have been reported in different populations. However, the common BRCA1 and BRCA2 mutations among breast cancer patients in Iran have not been described in detail.


METHODS
To comprehensively assess the frequency and distribution of the most common BRCA1 and BRCA2 mutations in Iranian breast cancer patients, we conducted this meta-analysis on 13 relevant published studies indentified in a literature search on PubMed and SID.


RESULTS
A total of 11 BRCA1 and BRCA2 distinct common mutations were identified, reported twice or more in the articles, of which 10 (c.2311T>C, c.3113A>G, c.4308T>C, c.4837A>G, c.2612C>T, c.3119G>A, c.3548A>G, c.5213G>A c.IVS16-92A/G, and c.IVS16-68A/G) mutations were in BRCA1, and 1 (c.4770A>G) was in BRCA2. The mutations were in exon 11, exon 13, intron 16, and exon 20 of BRCA1 and exon 11 of BRCA2. All have been previously reported in different populations.


CONCLUSIONS
These meta analysis results should be helpful in understanding the possibility of any first true founder mutation of BRCA1/BRCA2 in the Iranian population. In addition, they will be of significance for diagnostic testing, genetic counseling and for epidemiological studies.
Department of Internal Medicine, Shahid Sadoughi Hospital, Hematology, Oncology and Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran E-mail : hn_1364@yahoo.com.
Mohammad
M
Forat-Yazdi
Hossein
H
Neamatzadeh
Mohammad Hasan
MH
Sheikhha
Masoud
M
Zare-Shehneh
Mortaza
M
Fattahi
D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human