NEW GENETIC MUTATIONS IN BRCA1/ BRCA2 IN IRANIAN WOMEN WITH BREAST CANCER

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YASAEI V.R.; DALTON A.; HORNBY D.P.

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Paper Information

Journal: Research in Medicine Year:2004 | Volume:28 | Issue:2 Page(s): 101-108

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Information Journal Paper

Title

NEW GENETIC MUTATIONS IN BRCA1/ BRCA2 IN IRANIAN WOMEN WITH BREAST CANCER

Author(s)

YASAEI V.R. | DALTON A. | HORNBY D.P. | Issue Writer Certificate

Keywords

BRCA1Q4

BRCA2Q3

BREAST CANCERQ2

LRANQ2

DIAGNOSTIC TECHNIQUEQ4

Abstract

Background: BREAST CANCER is the most common female malignancy and the main cause of death in mid-aged women. Genetic germline mutations in BRCA1/BRCA2 in Iranian women with breast or ovarian cancer have not been yet reported.Materials and methods: Clinical data, family history and blood samples were obtained from 83 females aged less than 45 years with primary BREAST CANCER in order to survey genetic mutations in BRCA1/BRCA2. Exon 11 of BRCA1 and exons 10 and 11 of BRCA2 were analyzed by Protein Truncation Test (PTT), however, exons 2,3,5,13, and 20 of BRCA1 and 9,17,18, and 23 of BRCA2 were analyzed using Single-Strand Conformation Polymorphism (SSCP) technique.Results: We have found 10 genetic mutations for the first time among Iranian females with BREAST CANCER. Of these, 5 were frame shift (4 were found for the first time), 3 were missense (with unknown influence on BREAST CANCER), and 2 were polymorphism (one was common among Iranian and British subjects).Conclusion: Our findings reveal that each country must have a specific data bank of its own genetic mutations for BREAST CANCER, based on which, screening planning may run. Epidemiologically, early BREAST CANCER (before 45 years) and family history of BREAST CANCER are quite adequate to run a screening program; however, sporadic BREAST CANCER (with 5% probability of recognizing genetic mutation) is not cost effective.

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