The INPS, the association aBRCAdaBRA and the Italian Federation of Voluntary Associations in Oncology have reached a fundamental agreement for hundreds of people. Women with the BRCA gene can resort to preventative surgery, even if they are still healthy. From now on, they will be entitled to a percentage of civil disability.

In Italy there are 75-150 thousand people with BRCA mutations. This increases the risk of breast and ovarian cancer even under 30 years. To avoid it, you can do three things:

• close periodic visits;
• preventive chemo;
• preventive mastoplasty.

For most women, specialist visits are more than enough. For high-risk subjects, on the other hand, partial or total removal of the breast is the only solution. The operation involves a permanent impairment, with a strong functional and psychological discomfort.

This is why the associations have asked for disability for women who face the operation, even if they are not cancer patients. It will be a percentage proportional to the severity of the disorder and equal to a "non-serious handicap". Thanks to the agreement, BRCA mutations will be protected even if cancer is not in place. This is the sign of a new awareness of genetic risk and the importance of prevention. Above all, he recognizes the impact of such a discovery on a woman's life, forced to revolutionize her body to protect herself.

Source: quotidianosanita.it

Researchers at the Karolinska Institutet created a puzzle composed of 4 different DNA analyzes. This allowed them to map three rare chromosomal aberrations, first without a diagnosis. The study gave an answer to the families of four children suffering from very serious symptoms, yet without obvious cause. The next step will be to create a genetic test for use in the clinical setting.

About 1 in 500 people are carriers of balanced chromosomal aberrations: the genetic makeup is intact, but some pieces are in the wrong place. Not always these aberrations have obvious consequences, but in some cases cause infertility or increase the risk of transmitting genetic abnormalities to the children. Precisely for this reason, Dr. Anna Lindstrand has led a study on rare genetic diseases caused by chromosomal aberrations.

For two years, the team has followed three people with serious problems since childhood. Despite careful genetic analysis, nothing came up at first. Researchers knew that there were irregular chromosomes, but they had no idea how to recognize them. To obtain high-resolution images of the chromosomes, they then used a new sequencing technique.

The researchers combined the results of previous tests, creating a genetic puzzle. They thus obtained the image of the altered chromosomes present in the three patients, due to their symptoms. The aberrations are so rare that they are unique, which has made them even harder to find.

The study gave an answer to the families involved. Above all, it allowed us to obtain a method that could be used on hundreds of other chromosomal aberrations.

Source: medicalxpress.com

A team of Sapienza di Roma analyzed the genetic causes of male breast cancer. Given its low incidence, in fact, there are very few studies in this regard. The Italian scientists have instead focused on the genes that make Italian men more prone to cancer. The aim is to understand the basis of the genetic susceptibility of this form of cancer, so as to improve diagnosis and treatment.

The main breast cancer genes are BRCA1 and BRCA2. Scholars involved 523 men with breast cancer, of whom only 20 with BRCA mutations. In this way they focused on the other genes responsible for male mammary tumors. They analyzed 50 genes, all previously studied and largely heritable.

Mutations in the PALB2 gene are the most prevalent among men with breast cancer. Given their clear prevalence, researchers suspect that the gene could play a key role in the disease. The study of only Italian subjects has instead allowed us to better analyze our population genetics. In other countries the prevalent gene of male breast cancer is indeed another.

Usually the predominant gene in men with breast cancer is CHEK2. The mutations of this gene are however almost completely absent in Italy, which raises new questions. The next step will be to understand how the mutations of PALB2 increase the risk of cancer. In this way it will be possible to develop a specific breast screening for men.

Source: repubblica.it