Cancer is a complex disease, which is increasing its presence in the general population. Thanks to the advances in the understanding of the human genome and of the genetic mechanisms associated to the predisposition to develop malicious tumors, nowadays we can explain the appearance of certain tumors grouped in the same family. Around 200 genes that are capable of causing hereditary cancer syndromes have been described. These syndromes, the majority of which are extraordinarily rare in the general population, can, regardless, explain approximately 5-10% of all cancer cases.
They are usually characterized by youngest diagnosis ages, multiple cancer cases in an individual (and/or bilaterality), and precedents in the family. The majority of hereditary cancer syndromes are adjusted to a dominant autosomal inheritance pattern and are caused by germinal mutations that produce loss-of-function in tumor suppressor genes.
Which is why counting on better prevention, diagnosis, and treatment tools that are within the range of our population, and being up to date on new findings, play a crucial role in a clinical setting, resulting in a greater benefit for patients.
Currently, consensus clinical recommendations exist for the individuals/families who have the strongest cancer predisposition symptoms, such as the hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and multiple endocrine neoplasia.