The Interdisciplinary Clinic for Hereditary-Familial Risk (A.I.R.E.F.) is dedicated to the multidisciplinary management of oncological risk associated with genetic mutations that predispose individuals, particularly to breast and ovarian cancer.
In accordance with Regional Law No. 1 of February 2, 2022, individuals who fall into one of the hereditary-familial risk categories listed below must be referred to Oncological Genetic Counseling (C.G.O.) at the designated Breast Units. Referrals can be made by General Practitioners (M.M.G.), physicians from mammography and gynecological screening centers, health counseling center physicians, Oncological Guidance Centers (COrO), or specialists in genetics, gynecology, breast surgery, and oncology.
A. Patients with a personal history of:
· Male breast cancer;
· Breast and ovarian cancer in the same individual;
· Breast cancer diagnosed before the age of 36;
· Triple-negative breast cancer diagnosed before the age of 60;
· Bilateral breast cancer diagnosed before the age of 50;
· Non-mucinous and non-borderline ovarian cancer diagnosed at any age.
B. Patients with a personal history of breast cancer diagnosed before the age of 50 and a first-degree relative with:
· Breast cancer diagnosed before the age of 50;
· Non-mucinous and non-borderline ovarian cancer diagnosed at any age;
· Bilateral breast cancer;
· Male breast cancer;
· Locally advanced or metastatic pancreatic cancer;
· Metastatic prostate cancer.
C. Patients with a personal history of breast cancer diagnosed after the age of 50 and a family history of breast, ovarian, metastatic prostate, or locally advanced/metastatic pancreatic cancer in two or more first-degree relatives who are related to one another;
D. Healthy individuals with a previously identified hereditary mutation in a predisposing gene within their family or a first-degree relative with a personal history of cancer meeting the criteria outlined in sections A, B, or C.
The Medical Genetics Department (C.O.U.) of our institution confirms the indication for genetic testing.
In cases where a predisposing genetic mutation is detected—particularly involving the BRCA1 or BRCA2 genes, which significantly increase the risk of breast and ovarian cancer and, to a lesser extent, pancreatic and prostate cancers—the test may be extended to other family members.
When the test results influence therapeutic planning (either surgical or medical), it is prioritized as urgent (approximately 30 days). In all other cases, it is carried out under standard timelines.
All women identified as carriers of pathogenic mutations, whether affected by cancer or healthy, are referred to the Interdisciplinary Clinic for Hereditary-Familial Risk (A.I.R.E.F.).
The A.I.R.E.F. brings together various specialists, including a breast surgeon, gynecologist, geneticist, oncologist, and psycho-oncologist, to provide a multidisciplinary service aimed at empowering women with genetic mutations to manage their oncological risk. Within this team, women are educated about the meaning of their mutation, its implications, and the available preventive options.
Prevention strategies may involve either prophylactic surgery or clinical-instrumental surveillance.
Prophylactic breast surgery involves a bilateral mastectomy, which is generally performed using various conservative techniques designed to preserve the nipple-areola complex. The specific technique is adapted to the individual characteristics of the breast, such as N.A.C. (Nipple Areola Complex) sparing mastectomy or SKIN-reducing mastectomy in cases of macromastia.
Prophylactic gynecological surgery involves bilateral salpingo-oophorectomy (removal of the fallopian tubes and ovaries).
Women of childbearing age who choose to undergo salpingo-oophorectomy may be referred to the Fertility Preservation Clinic within the C.O.U. of Obstetrics and Gynecology.
Clinical and instrumental surveillance is provided through dedicated outpatient pathways managed by the Breast Imaging and Radiology O.U. and the Obstetrics/Gynecology O.U..
From the identification of a hereditary-familial risk condition to Oncological Genetic Counseling (C.G.O.), genetic testing (if indicated), and eventual referral to A.I.R.E.F., the psycho-oncologist plays a pivotal role throughout the patient’s journey.
Pre-test psychological counseling focuses on understanding the patient’s personal and family medical history, as well as their individual psychological profile and characteristics.
Post-test psychological counseling involves delivering the genetic test results, offering psychological support, monitoring emotional responses over time, facilitating adaptation, and providing crucial guidance during significant decision-making processes.
The psycho-oncologist supports patients in making informed decisions about cancer prevention and risk-reduction strategies.
Psychological interventions focus on developing effective coping strategies for managing hereditary-familial risk, increasing understanding and awareness of its implications, managing psycho-emotional stress, processing the psychological impact of oncological risk, and assisting with decisions about clinical surveillance or preventive surgery.
The management of High-Risk Women (D.A.R.)—those who fall into one of the hereditary-familial risk categories outlined above—has been an active program in our hospital since 2016. This process is governed by a dedicated pathway integrated into the Breast Unit’s P.D.T.A. (Diagnostic and Therapeutic Pathways) and is supported by a comprehensive database that currently includes approximately 180 cases.
Appointments are coordinated by designated professionals within the Medical Genetics, Breast Surgery, Gynecology, and Oncology Operative Units. Any staff member at Casa Sollievo della Sofferenza may refer patients requiring genetic testing or management of identified mutations to the appropriate clinic. However, all C.G.O. referrals for suspected hereditary risk cases are directly overseen by the C.O.U. of Medical Genetics.
The specialists working within A.I.R.E.F. include professionals from the Medical Genetics, Breast Surgery, Obstetrics-Gynecology, and Oncology Units, as well as the Clinical Psychology Service.
