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Aurora magazine

The blog about the prenatal genetic of latest generation

What are the BRCA genetic mutations?

Many women have discovered the BRCA mutations Angelina Jolie when she underwent preventive mastectomy and oophorectomy. A decision according to many radical, due to the diagnosis of a particular mutation in its DNA that would increase in an important way the risk of cancer. The mutation is precisely that of the BRCA genes.

The mutation in the BRCA 1 and BRCA 2 genes causes the development of a mutated version of the corresponding proteins. Under normal conditions, these would be part of a variety of repair proteins. Their task would erase damage from DNA of cells, made by external factors such as smoking or radiation. In the case of mutations, the cells of the breast and ovaries accumulate errors in their DNA and turn into cancer cells. The mutation of BRCA 1 and BRCA 2 genes is caused most often by environmental factors, but in some cases is due to heredity.

Abnormalities in genes BRCA 1 and BRCA 2 are connected either to breast cancer than to the ovary. Who presents the anomaly has a risk of developing a breast cancer that goes from 60% to 90%. As for the ovarian cancer risk ranges between 15% and 50%. The odds depend on the type of anomaly and the family history and, if particularly high, may lead to preventive mastectomy and oophorectomy. These choices, although very radical, are sometimes the only way to face a sentence otherwise almost certain.

Breast cancer is the most common among women and is also one of the easiest to deal with. Five years after diagnosis, 89% of patients survive. Ovarian cancer is much less common but far more deadly. The symptoms are hard to detect and to five years of diagnosis, only 46% of patients survive. That's why it is good that women with a family history marked by such tumors carry specific DNA testing. There are also monitoring of tumor markers techniques, so as to check for any suspicious elevations.

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Medically assisted procreation is less effective with two embryos

A clinical team Nurture Fertility in Nottingham have shown that in vitro fertilization is little better. In fact, the implantation of an embryo with another weaker lowers by 27% the chances that the pregnancy is successful. A very high probability, if you think that about 1 out of 4 embryo is probably too weak to develop.

Researchers have observed about 1,472 embryos implanted in women of all ages five days after fertilization. They analyzed the survival rate of embryos implanted alone, compared with those implanted with another less strong. The possibility to develop the first group were found to be far higher.

Scientists speculate that the body is concentrated weaker embryo, trying to expel him to put an end to the pregnancy. This has consequences also healthy embryo, which undergoes in turn the body's hostile environment. It would be for this reason that the embryos installations in torque would have a lower success rate of 27%, with respect to those instead implanted alone.

The team also analyzed the success rate of pairs of embryos that are both healthy. Even in these cases, it was less than that of embryos implanted individually. Researchers suspect that the body always tends to tararsi embryo with less chance of success. This process would compromise the healthiest embryo chance, even where the two embryos would have a chance to develop, if implanted alone.

The study concludes that for most adult women is best to proceed with an implant the desire, perhaps accompanying it with appropriate methods of prenatal screening

Source: theguardian.com

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Ovarian cancer: the relevance of the BRCA genetic test

Ovarian cancer is a killer still too little known in Italy. The latest estimates say that 60% of women do not know him, this despite the 6 thousand new cases diagnosed each year only in the country. As opposed to other types of cancers, prevention tools are few: the most effective weapon is a DNA test to seeking the BRCA mutation.

It is estimated that 1 in 4 ovarian cancer is due to the mutation of the BRCA genes. For this reason, they are springing up more and more initiatives to promote genetic testing including how many have had a case family. This allows to identify the risk of cancer for time, so as to undertake the prevention paths required to reduce the risk. Unfortunately 75% of Italian women is not aware of the genetic mutation, although increases by 46% the chances of getting the disease.

Figure out if you are carriers of the mutation can be crucial for all women. Those who have already received a diagnosis of ovarian cancer can access more targeted treatments, which slow down the disease and reduce the risk of recurrence. An example are the drugs PARP inhibitors, which exploit the same BRCA mutation to bring the tumor cells to death. The healthy women, however, can activate a series of prevention strategies.

Ovarian cancer is lethal in most cases, because of the difficulty of identifying the symptoms. Almost 80% of the diagnosis is made when the cancer is already at an advanced stage, which greatly reduces a possibility to use effective treatments.

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67 years old woman lent uterus to her daughter

Anastassia Ontuoi, 67, became the oldest surrogate mother in the world. He has indeed lent the uterus to her daughter, who had conceded seven spontaneous abortions and that doctors had said they would never be able to conceive. The baby was born six weeks premature and by caesarean section. Although she weighed just 1.2 kg was fine.

Constatina was 43 years old and had a long and painful list of miscarriages. After yet another attempt failed, the mother had proposed to be her surrogate mother. A crazy proposal is the second woman is according to doctors. Dr. Constantinos Pantos has however supported the decision, and the two women followed throughout the process.

The choice of the woman was risky for her and the baby. The higher the age of the mother, in fact, more are the chances of running into conditions such as diabetes and high blood pressure. also increase the risk of miscarriage and complications during childbirth. Nevertheless, Anastassia Ontuoi went on their separate ways.
According to international registries, Ms. Ontuoi is now the oldest woman to have done as surrogate mother. Before her there was Carmen Bousada Lara, who had given birth to twins in the early 2000 and died of cancer in 2009.

Source: dailymail.co.uk

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