Paper Information

Journal:   IRANIAN QUARTERLY JOURNAL OF BREAST DISEASE   SUMMER 2009 , Volume 2 , Number 2 (5); Page(s) 14 To 26.
 
Paper:  IDENTIFICATION OF BRCA1 AND BRCA2 MUTATIONS IN A NUMBER OF IRANIAN PATIENTS WITH EARLY ONSET BREAST CANCER OR FAMILY HISTORY OF BREAST CANCER RISK
 
Author(s):  KESHAVARZI FATEMEH, JAVADI GHOLAM REZA, NAFISSI NAHID, MAJIDZADEH A. KEIVAN, YASSAEE VAHID REZA, BAGHERIAN HAMIDEH, MASHAYEKHI MOHAMMAD REZA, ZEINALI SIROUS*
 
* KAWSAR HUMAN GENETICS RESEARCH CENTER, MEDICAL GENETICS LABORATORY OF DR.ZEINALI, TEHRAN, IRAN
 
Abstract: 

Background: Mutations in BRCAI are present in approximately 50%ofthe early-onset breast cancer families and 80% of the early-onset breast and ovarian cancer families, whereas BRCA2 mutations are believed to account for a comparable percentage of inherited breast cancer cases. Therefore, the demand for BRCAI and BRCA2 mutations screening is increasing as their identification will affect medical management of people at increased risk for breast and ovarian cancers. The aim of this study was to investigate mutations of BRCAl/2 in a number of breast cancer patients (at age£S40 years) or with family history of breast or ovarian cancer. .
Materials and methods: All study subjects (63 breast cancer patients (at age
£S 40 years) or with family history of breast or ovarian cancer) and 50 controls were recruited from Feb.2009 to Mar.2010 at kawsar Human Genetics Research Center, Iran. After collecting blood samples and extracting DNA, their BRCAI and BRCA2 genes were fully sequenced.
Results: Many missense substitutions in BRCAI and BRCA2 genes were identified. Here novel mutations are reported (Glyl 140Ser, Ileu15Ieu, Ileu26Ieu, Glu23Gln, Leu30pal (stop codon), Pr0938Arg, Leu6Val, Arg7Cys, Ser177Val, IVS7+83 (TT), IVS8 -70 (CATT), IVS2+9(GC), IVS1- 20(GA), IVS 1-8 (AG), IVS2+24 (AG) in BRCAI and Glu139l Gly in BRCA2) in BRCAI and Glu1391Gly in BRCA2).
Conclusion: The missense substitutions Glul038Pro, Glyl140Ser were found in large series of breast cancer patients and 20%<of matched controls. The missense substitutions Gly1738Glu, Leu3stop codon, He2l Val and IVS2-1 (GC), CD26SmallINSGTCCC/\ ATCTG E2l2catctgGT AAGTCAGC in BRCAI and Leu1522Phe in BRCA2 are pathogenic. Based on our preliminary results some haplotypes may have a pathogenic role in breast cancer development, the haplotype at the BRCAI locus defined by alleles Leu871Pro, GLu1038Gly, Ser1613Gly, Glyl140Ser was found in 10 affected families.
More studies are required to confirm the hypothesis that genetic polymorphisms are associated with breast cancer.

 
Keyword(s): BREAST CANCER, BRCAI GENE, BRCA2 GENE, GENETIC POLYMORPHISM, FAMILIAL CANCER
 
References: 
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