Patients around the globe could be predisposed to breast cancer due to the alteration of a gene. They need to request a genetic consultation to benefit, if necessary, from personalized care. Everyone wants to know is breast cancer genetic?
60,000 women with BRCA1 or BRCA2 changes
“These two genes help repair the damage that DNA regularly undergoes. The presence of modifications in one of these two genes disrupts this function and greatly increases the chance of ovarian cancer and breast cancer . ‘, The National Cancer Institute estimates that around 2 in 1000 women are carriers of a BRCA1 or BRCA2 mutation. He explains. Concretely, Institut data indicates that 120,000 women could be predisposed: 60,000 women would be carriers of an alteration in BRCA1, BRCA2 or PALB2, while the other 60,000 would have unidentified predisposing factors for this day.
A figure far from negligible as claimed by researchers of the American Board of Medical Genetics. “ Hereditary cancers potentially affect a families in large number and we need to better inform women of the existence of these predispositions, to improve the monitoring of people at risk everywhere. ‘, Researchers emphasizes. When a mutation is suspected, the patient may request a consultation with a genetic oncology specialist to consider carrying out a test. If the risk is proven, specific management (surveillance, imaging examination, etc.) is then proposed.
In 2013, Angelina Jolie, whose mother died from ovarian cancer, revealed in the press that she had the same mutation in the BRCA1 gene and had chosen to undergo a preventive removal of the breasts and ovaries. A statement widely relayed in the media and which had raised public awareness of hereditary breast cancers and their prevention. Our experts are leading European centre for the management of breast cancer, would like to take stock of genetic predispositions once again and remind people of the importance of correctly identifying women with high risk to offer them a personalized follow-up.
The so-called hereditary breast and / or ovarian cancers are mainly linked to alterations affecting three genes: BRCA1, BRCA2 and more rarely PALB2. Having a mutation in one of these genes does not regularly result in the appearance of cancer, but increases the risk of developing one. Thus, the risk of developing breast cancer in the worldwide population is around 12%. In the case of the most frequent genetic modifications, the latter is around 45% before 50 years with BRCA1 and 70% before 80 years while with BRCA2, the risk is around 35% before 50 years and around 70% before 80 years.
Close Monitoring or Preventive Surgery
The patients concerned are then subject to clinical monitoring twice a year (palpation of the breasts) and radiological monitoring from the age of 30 (MRI, mammography, ultrasound) each year, to detect any cancer as soon as possible. On the other hand, these do not come within the framework of organized screening for cancer (50 and 74 years old patients) which concerns women at “medium” risk. Preventive surgery by ablation (prophylactic mastectomy) with possible breast reconstruction can also be offered to them to significantly reduce the risk of developing cancer: according to the American Board of Medical Genetics, 10% of women at risk make this choice.
‘When a option is highlighted in any family member, it is then possible to offer the genetic test to the other members: this makes it possible to identify the predisposed people and to recommend them an adapted follow-up, or to reassure those who are not genetic alteration carriers. Adds the organization. One of the outcomes of Angelina Jolie’s announcement increased the demand for this type of testing.
