- The most common types of hereditary cancer are breast, colorectal, ovarian, melanoma, renal, and retinoblastoma.
- Early diagnosis, chemoprevention, and preventive surgery are key for clinical management prior to disease onset.
- The International Agency for Research on Cancer (IARC) has already placed cancer as the leading cause of mortality worldwide in 2030.
Madrid, February 4, 2023.- “Although cancer is a multifactorial pathology, it has a genetic component, with certain genetic alterations, or mutations, provoking the development of cancer,” says Dr. Inés Calabria, , Head of Oncology at Health in Code. Specifically, she points out that “approximately 10% of tumors are hereditary and genetic tests are capable of detecting the germline mutations that cause them”.
Common hereditary cancers include breast cancer, colorectal cancer, ovarian cancer, melanoma, renal cancer, and retinoblastoma. Dr . Calabriahighlights the importance of “early diagnosis, chemoprevention, and preventive surgery to prevent a large number of cancer cases, provided that proper genetic counseling advice given by experts is followed and the most effective preventive measures are taken”.
She underlines that “genetic testing is useful, not only as a tool for the study of hereditary cancer or proper follow-up of patients”, but it is also a key element for diagnosis, prognosis, and, importantly, personalized medicine for cancer patients based on the specific characterization of their tumor.
Screening for early detection
The number of people suffering from cancer continues to grow, and the International Agency for Research on Cancer (IARC) report that cancer will become the leading cause of mortality worldwide in 2030.
“Genetic counseling is currently done by oncology genetic counseling units, and genetic tests are recommended exclusively for individuals whose personal and family history suggests hereditary cancer”, asserts Dr. Calabria. In our country, population screening programs are available for breast cancer, colorectal cancer, and cervical cancer, “and they have already shown benefits, both in reducing the number of cases and the mortality rate,” she adds.
Regarding the possibility of implementing public healthcare screening for other types of cancer, Dr. Calabria acknowledges that “it is very difficult, because it is necessary to have diagnostic tests with sufficient sensitivity and specificity. Moreover, these tests must be simple, cheap, and minimally invasive for patients”.
To answer this need, Health in Code offers Hereditary Plus OncoKitDx, which makes it possible to genetically test for the main cancer predisposition syndromes. This procedure involves sequencing of 101 genes associated with the most frequent types of hereditary cancer that have some type of clinical implication, be it for diagnosis or for adjusting treatment based on the prognostic value of the genetic findings.