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Unbalanced karyotype in a human foetus due to a recurrent familial translocation

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Author(s): Nicoleta ANDREESCU | Dorina STOICANESCU | Alina BELENGEANU | Simona FARCAS | Cristina POPA | Monica STOIAN | Valerica BELENGEANU

Journal: Analele Universitatii din Oradea, Fascicula Biologie
ISSN 1224-5119

Volume: TOM XVII;
Issue: 1;
Start page: 9;
Date: 2010;
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Keywords: gene polymorphism | estrogen receptor | androgen receptor | PROGINS fragment | breast cancer

ABSTRACT
Breast cancer is among the most common forms of cancer. The molecular mechanisms involved in hormone dependence of breast cancer have been largely investigated. The role of the estrogen and progesterone receptors has been documented, but the role of androgen receptor is less well known. A great part of the researches is focused on identifying the gene profile for disease predisposition, as well as the gene profiles characteristic to different stages of the disorder. Gene instability is the result of a minor alteration at the level of the microsatellites from the genomic DNA sequence. Changes of the stability of microsatellites are considered markers in the colon cancer and in different types of solid tumors. Breast cancer samples were analyzed to determine the existence of several polymorphisms in the structure of the genes that code for hormone receptors such as estrogen, progesterone and androgen receptors. The following tandem repeats were sized by gel electrophoresis: CA for ER-α, TA for ER-β and CAG for androgen receptor, together with PROGINS polymorphism. Correlated with the stage of malignancy it was noticed that majority of cases with a higher number of CAG repeats as well as those who had the allele of 481 bp in PROGINS segment were in stage III or IV, with invasive ductal carcinoma and a severe prognosis. It was also noticed that polymorphisms of estrogen receptors genes may be correlated with a severe prognosis, but due to the low number of samples, no ferm conclusions could be drawn.
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