Breast cancer and gene expression
Breast cancer is currently the most common tumor in women. Through sophisticated expression studies, twelve genes were identified that are associated with more aggressive forms of this disease. This opens up possible scenarios for the synthesis of new cancer drugs and the use of effective prognostic markers of breast cancer.
The breast is a anatomically located between the skin and chest wall: it consists of a set of glands, connective tissue and fat. All of the glandular structures called lobule, which form an aggregate multiple lobe. In the breast there are usually 15 to 20 lobes.
embryological point of view, the breast in both sexes originating from the same tissue type. During puberty in women, unlike men, the action of the hormones estrogen leads to a specific development of the mammary gland.
The mammary gland is in the woman MP for milk production. The ducts connecting the glandular mass, located within the breast, with the outside level of the nipple, allowing the flow of breast milk.
BREAST CANCER Breast cancer affects 1 in 10 women.
is currently the most common tumor in women, followed by cancer of the colon-rectum, lung, stomach and body of the uterus.
It is due to the uncontrolled multiplication of some cells of the mammary gland to undergo malignant transformation. These cancer cells can produce metastases, that may become detached from the tissue of origin invading the surrounding anatomic areas (axillary lymph nodes) and, subsequently, other organs.
Breast cancer is a potentially serious disease if not detected and treated early.
Usually, breast cancer at an early stage does not cause any pain. In this sense, self-examination is a technique that could allow the woman to early detection of small nodules, palpable. Currently, mammography
represents the most effective method to diagnose early. The guidelines recommend a screening mammogram every two years after 50 years of age, while taking into account the personal and family history of every woman. In Italy there are
mammography screening programs, under way or being implemented in most regions, providing for the execution a mammogram every two years in women aged 50 to 69 years.
Variable 'HUMAN GENOME
Through the completion of the first genome sequence of Homo sapiens, built in 2001, and subsequent studies of functional and molecular characterization of its approximately 3 billion DNA bases, it was possible to delineate the ' general architecture of our genome.
The comparison of genomes of different individuals has also shown that they are basically identical except for a small portion, approximately 0.1% of their total length.
In this lies the 0.1% genetic variability of the human species. This variability includes both rare
genetic variations (mutations ), potentially responsible for hereditary diseases, and those variations are most frequent in the population (polymorphisms ) and probably benign.
Common variations in the human genome may affect both the single DNA bases (base substitutions, called single nucleotide polymorphisms, SNPs ), that a larger region (repetitions or removal of a relatively large number of bases, such Copy Number Variations; CNVs).
In the face of kindness given to SNPs and CNVs, these being frequent genetic variations in populations, there is evidence of how, in specific molecular and cellular contexts, these variants may be the basis of pathogenetic mechanisms.
In particular, if the recovery or removal of a long sequence of DNA (CNV) interest a coding region (gene), as deputy for the control of cell growth, this may represent a risk factor for the development of cancer cells.
GENE EXPRESSION TO THE BASE OF BREAST CANCER
If the sequence of a gene has been removed or is repeated several times within the genome, this could alter the levels of gene expression (amount of messenger RNA). It could also affect the same gene product (concentration or functionality of the protein ) within the cell. And 'know how these processes may be altered in tumor cells .
A group of researchers at the University of Gothenburg has studied hundreds of women with breast cancer, focusing on the marked variability in terms of DNA and biological properties typical of breast carcinoma cells.
The researchers, through the use of very advanced techniques, they measured the amount of DNA and mRNA in each tumor tissue. Overall, 15 different genomic regions have shown altered levels, in terms of gene expression or DNA copy number, in at least one quarter of the tumor samples analyzed.
In particular, 12 genes have been associated with more aggressive forms of breast cancer .
Three genes were more expressed in the fact that those women are dead within 8 years after diagnosis, compared with patients with longer survival. Instead 9 other genes were less expressed in tumors with unfavorable prognosis.
These data suggest that the products of these genes may have an effect on tumor progression in terms of growth and metastasis of cancer cells. The test repeatedly the expression of these genes, in the course of anti-tumor therapy, could allow the monitoring at the molecular level, the effectiveness of drug therapy in action. The precise characterization of the protein products of these genes could also be the target for new drug therapies .
Overall, confirmation of these data may suggest the early determination of the expression of these genes as a prognostic marker in the development of breast cancer.
E 'desirable in the future, through the execution of a blood sample containing circulating tumor cells, the ability to make early diagnosis for the development of breast cancer, very focused and very little invasive.
(by Roberto Insolia - Press-Stampa.net)
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