Posts Tagged ‘genetic disorders’

Relationship between cancer and genetic disorders

Tuesday, April 27th, 2010

Cancer is a disease with wide molecular basis, since tumor cells are characterized by numerous structural and functional changes with respect to normal cells. These variations are not necessarily the same for each tissue and tumor. Although most cancer processes follow a common pattern, there are particular genes associated with various tumors, some very frequent in the Spanish population, which give the wearer a small risk of developing cancer, diabetes or cardiovascular disease. All these characteristics make cancer a genetic study of complex and expensive process, but knowing these genes would help in the development of prevention programs and better treatment strategies and early diagnosis with a simple blood test.
Different tumors with similar genetic characteristics

Different tumors in different tissues and patients of different ages stand out repetitive patterns of genes in common. In DNA there are multiple copies of each gene, some of them only have two copies while many others have a large number scattered throughout the genome. The number of copies is one of the factors that determines the rate of synthesis of the proteins they encode. Thus, changes in the number of copies will affect the concentration of protein in the cell and thus modulate its function.

A major study conducted by scientists from USA, Japan, Canada and Spain has shown that various tumor types share very similar genetic characteristics. The work has been published in the journal “Nature” and it has involved scientists at the Hospital Vall d’Hebron and the Institut d’Oncologia Vall d’Hebron, Barcelona. For the investigation we have analyzed more than 3,000 tumor samples from 26 types of cancer. As explained by Josep Tabernero, an oncologist at the hospital, “we analyzed copies of the genes of somatic cells (which form the growth of tissues and organs of a living being, from embryonic stem cells) tumor and were compared with germ cells ( containing genetic material) from the same patient. ”

Abnormalities were detected in the number of regions in tumor cells, either due to lack or excess. The most interesting discovery is that the change in the number of copies is found in several tumors of different cancers to assume 75% of the changes common to all tumors and only 25% of tumor-specific alterations. In the study, 122 were also found new genomic regions likely to have a relationship with the tumoral process. However, the authors claim that only 25% know of the possible genes involved in cancer and still more research is needed.

The director of the Institut d’Oncologia Vall d’Hebron, Josep Baselga, in this respect that, “the end of the day, cancer is a disease of the genome. It breaks down and ends up developing a tumor.”

In the DNA is stored almost all the hereditary information of the organism, related to structural and functional characteristics, so that if you analyze and compare the genome of different cells, healthy and tumor, there are some common areas and other different between them. This allows determination of common genetic characteristics in tumor cells, not present in healthy cells, which help to identify common patterns related to the tumor process.
Genetic markers for breast and colon

The number of repetitions of specific regions in the genome is not the only implication of genetics in cancer, because there are specific genes associated with various tumors. One such group is known as low-penetrance genes that are common in the population and give the wearer a small risk of developing a certain disease. Not only are related to cancer disease, but can also facilitate the development of other diseases such as diabetes or cardiovascular problems. However, it is a necessary interaction of more than one risk to be considered for a particular disease.

In relation to breast cancer, seven were known far penetrance genes. However, a recent study conducted by the International Consortium of Breast Cancer (BCAC) has unveiled two new genes involved. The BCAC is an international consortium involving 27 research groups for breast cancer. Among them, three Spanish organizations: the National Cancer Centre (CNIO), Hospital Universitario La Paz Hospital in Madrid and Oviedo Monte Naranco.

The study, published in the journal “Nature Genetics”, it concludes that these two new genes and are nine penetrance genes are associated with breast cancer. As the number of genes discovered, can be designed better therapies and diagnostic for prevention. It is estimated that they participate in a 6% in the genetic component of this tumor.

Similarly, another study by Spanish researchers, in collaboration with other countries, reveals new genetic markers that increase the risk of developing colon cancer. These new markers can be helpful in determining the risk of developing the disease in people with colon cancer runs in your family. José Augusto García Agundez, Professor of Pharmacology at the University of Extremadura and collaborator in the study, explains that the new genetic markers “allow the realization of early diagnosis of the disease in a routine and massive, with a simple blood test .

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