Hereditary cancer global panel [50 genes]
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.
It includes those genes involved in the more common syndromes that are present in the general population that have some clinical implication in the diagnosis, guided treatment, or prognostic value.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
This panel is complemented with other genes related to rare and less frequent syndromes found in the general population. Their benefit lies in their usage for more complex cases where the phenotype is not clear no familial segregation data exists etc.