مدیریت تحقیقات در سرطان پستان: داده های سرطان پستان و غربالگری ژنتیکی در بیماران ایرانی

Title

Management of research in breast cancer: Breast cancer database and genetic screening in Iranian patients

English Abstract

Background: Breast Cancer (BC)is the most common cancer diagnosed in Iranian women. Our database are representive fo the histopathologic and pedigrees' information on 1000 primary BC-patients. The primary analysis of 518 cases revealed the mean age of 49 years (15 to 82 Y, St dev.: 11.16), with invasive ductal carcinoma (84%). The Family History (FH) of BC was found in 30%; among total of 247 BC cases in 152 pedigrees, the more frequent distribution of BC was found in 2nd degree (68%), 3rd degree (:52%), and 1st degree (48%) relatives. Materials and Methods: Thirty BC- patients with age of <36 years have been genetically, with a multidisciplinary program. Cytogenetic and Molecular Genetics were investigated on the basis of tumor cultures and PCR-SSCP and sequencing respectively. Study of Cancer Genetics Epidemiology was carried out by SPSS. Results and Conclusion: Only 20% (6/30) of BC patients had an FH of BC. In karyogram and Fluorescence in situ hybridization (FISH), the more frequent chromosome involvement was found to be A1 and A3. Although the frequency of micronucleus is increased, in peripheral lymphocytes of BRCA1 and BRCA2 mutation carriers, but it was found in 10% (3/30) of blood lymphocytes and 16.6% (5/30) of tumor cells of the present cases. a novel (4643del4), and insertion (6262insGT) in BRCA2; one novel intronic variation (IVS 17-53C>T); and a deletion/insertion (*Del381_389Dup381_409) in BRCA1 (Results from the collaboration between Humboldt Univ. and Tehran Univ. of Med. Sciences) were not found in present patients. The majority of patients, i.e. 88.8% (20/30) were inserted in Genetic counceling and performance of Genetics investigations, and 93% (28/30) were concerned about their offsprings. Our main aims are to draw the specific Genetic pattern in our BC-patients, with focusing on prognosis, prediction, prevention (early detection), for patients and their relatives (healthy and affected), in order to provide a better style of life for them.

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