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Hereditary Cancer Syndromes: “The Angelina Effect”

Hereditary Cancer Risk Assesment: Is it important?

Angelina Jolie’s preventative mastectomy has had a massive impact on the numbers of women being referred for preventative treatment globally. Since the year that the famous actor announced her prophylactic surgery the referrals for genetic testing and counselling for hereditary breast cancer were grown dramatically. This is very important news as it means that more high risk women are now being monitored or undergoing preventative treatment for breast cancer.

Angelina Jolie decided to undergo a double preventative mastectomy after being positive for the mutated BRCA1 gene which is known to be strongly linked to the high risk of developing breast cancer. This gene mutation is linked to those with a strong family history of breast and/or ovarian cancer –as was the case with Jolie, whose mother passed away from breast cancer at the age of 57.

Most of the cancer cases are sporadic, meaning they occur by chance with no known cause. Most women with breast and ovarian cancer do not have a Hereditary Breast and Ovarian Cancer Syndrome. Only around 10% of the women diagnosed with breast or/and ovarian cancer carry a pathogenic mutation in the genes that are linked to the increased risk of developing hereditary cancer. Therefore, the international guidelines strongly recommend that these women be referred for genetic testing. 

The Hereditary Breast and Ovarian Cancer Syndrome is most frequently diagnosed when there are multiple cases of breast and/or ovarian cancer in one family. Also, people that are eligible with the Hereditary Cancer Risk Assays are people that had cancer at a young age, individuals with multiple primary tumors, multiple generations of a family with cancer, rare tumor incidence at any age, individuals with bilateral cancers etc.

Ms.Jolie’s announcement triggered an increase in the number of the genetic screening of people in high risk due to their hereditary gene abnormalities and this is a very important step so they can minimize the chances of the disease developing.

Genekor’s scientific team has over 17 years of experience in cancer genetics and has performed thousands of hereditary cancer tests. Our Hereditary Cancer Risk Assessment (HerediGENE) is designed in order to provide comprehensive and reliable information to both physicians and patients. It is developed and validated based on the most up-to-date international society guidelines and performed using the Advanced Next Generation Sequencing technology (NGS).

Knowledge of the risk for hereditary cancer syndromes provides physicians with several different options for the management of a patient and his relatives.