1.2 million Italians are at high risk of developing cancer due to hereditary mutations

More than 1.25 million people in Italy are "like" Angelina Jolie and Bianca Balti: they have a mutation (present from birth) that predisposes them to developing cancer. And fewer than 200,000 are aware of it—that is, the 15% who have ever undergone a genetic test. The remaining 85%, however, have never done so, partly due to unequal access to technologies that now allow for rapid analysis of large portions of DNA (Next Generation Sequencing, NGS) platforms. Only a few regions, in fact, have approved Diagnostic-Therapeutic Care Pathways (PDTA) for people at high hereditary-familial risk.

10% of tumors are of the "hereditary" type

This is the reminder from the Aiom Foundation (Italian Association of Medical Oncology), which is launching a campaign today to inform and raise awareness among the public about the genetic risk of cancer, through brochures, webinars, talk shows, and surveys. The "Hereditary-Familial Tumors" initiative is supported by the unconditional contribution of AstraZeneca. "In 2024, an estimated 390,100 new cancer diagnoses were made in Italy, and we know that approximately 10% are attributable to a hereditary syndrome," explains Saverio Cinieri , president of the Aiom Foundation. "The organs most affected are the breast, ovaries, prostate, pancreas, colorectal, and endometrium. These syndromes are passed down within families, so they can be identified by starting with the 'index case' of the person already affected by the tumor, and then performing 'cascade' genetic testing on healthy family members."

Oncogenetic counseling

Care for these patients begins with referral for oncology genetic counseling, to assess their risk profile and eligibility for genetic testing. The test results allow us to estimate the likelihood of developing cancer and initiate management of the individual in a personalized risk management program. "Oncology genetic counseling," Cinieri continues, "is therefore a process consisting of several phases within a multidisciplinary framework."

Genetic testing and prevention and surveillance pathways

Those who discover they carry these mutations can be offered a primary prevention program, such as prophylactic breast and ovarian surgery, whose effectiveness has been demonstrated by scientific studies in terms of improved survival and reduced mortality. "The expansion of genetic testing," Cinieri emphasizes, "should be viewed positively, as it theoretically allows us to reach a greater number of at-risk individuals who can benefit from personalized prevention strategies. However, today, several obstacles remain, especially organizational ones. In fact, PDTAs for citizens at high hereditary-familial risk are not available in all regions."

What are the mutations that “cause” cancer?

Estimates indicate 387,000 carriers of mutations (or, more correctly, pathogenic variants) in the BRCA1-BRCA2 genes, 625,000 with mutations in other genes of the homologous recombination (HR) system, 215,000 with defects in mismatch repair genes (MMRd), and 25,000 with other rarer syndromes (such as Li Fraumeni, Cowden, FAP, VHL, and Peutz-Jeghers). Molecular genetic testing is also an integral part of the treatment pathway for some of these cancers, thanks to targeted drugs called PARP inhibitors. The initial focus was on ovarian cancer, which served as a model for the implementation of genetic testing for therapeutic purposes, and then on breast and prostate cancer.

Active surveillance in the Lea (but only for women)

The 2023-2027 National Oncology Plan includes a specific chapter on screening and personalized care for citizens at high hereditary-familial risk, as Adriana Bonifacino , founder of the IncontraDonna Foundation, points out: "Furthermore, last April, the Ministry of Health published the drafts of the Ministerial Decree and the Prime Ministerial Decree updating the Essential Levels of Assistance (LEA). Among the most significant innovations, the introduction of active surveillance for women at hereditary genetic risk for breast and ovarian cancer represents a fundamental step, paving the way for new developments in genetically based cancer prevention."

Fondazione IncontraDonna hopes for further progress, starting with the introduction of a national exemption code that also recognizes men with BRCA1 and BRCA2 mutations as eligible for surveillance for related cancers, such as pancreatic, prostate, and stomach cancers. "Similarly," concludes Bonifacino, "it will be a priority to ensure a specific pathway dedicated to women at high risk due to a family history of prominent and dense breasts, overcoming the current regional disparities."