Hereditary Cancer & Genetic Counseling
Rogelio González Sarmiento
+34 923 294 814
Juan Jesús Cruz Hernández
+34 923 291 342
Hereditary Cancer Genetic Counseling
Centro de Investigación del Cáncer (CSIC-USAL).
Campus Universitario Miguel de Unamuno s/n E-37007 Salamanca (Spain)
Eva María Sánchez Tapia
+34 923 294 814
Cancer is a very heterogeneous disease caused by different factors. Those factors can be environmental and genetic and both are responsible for its etiopathogeny. It is estimated that between 5% and 10% of all tumors are hereditary. In those cases, the genetic alterations which determine the appearance of a series of cancer types can be transmitted from parents to their off spring together with a high possibility that the carriers of this particular mutation can therefore develop a tumor. This implies the necessity to carry out a genetic check-up of the entire family who then will be informed not only about the probability of a neoplasm appearance and transmitting the cancer predisposition to the descendants, but also about the prognosis, early detection strategies and proper treatment.
Therefore, the study of hereditary cancer is currently one of the most developing areas within oncology. The possibility of detecting people with high risk of suffering from cancer is going to help us progress in two directions. On the one hand, the possibility of reducing the risk of suffering from certain neoplasmic types or at least of detecting them early, and on the other hand, the possibility of having a better knowledge of the disease that will help transfer this information onto other types of tumors.
The thorough knowledge of the genetic factors related to cancer will be helpful in estimating more precisely the risk of developing it by each individual. It will also help establish precautionary measures which will be personalized and therefore efficient. Talking about the hereditary cancer is closely connected to genetic counseling. Except for clearly investigatory situations, anything that can be even remotely related to the hereditary cancer should be inscribed into the proper genetic counseling. This will imply a series of communication phases with the person and/ or relatives who are going to require an expert specialized in the concrete area.
The main objective of the Laboratory of Hereditary Cancer of CIC-IBMCC (Institute of Molecular and Cellular Biology of Cancer) is to pay attention, prevent from and investigate the hereditary and family cancer. It can be fulfilled through counseling, evaluation, and study of the family with an increased genetic susceptibility to cancer. For this reason the Laboratory collaborates with the Genetic Counseling Unit of Hereditary Cancer that is part of the Clinical Oncology Department at the University Hospital of Salamanca. Both the Genetic Counseling Unit and the Laboratory of Hereditary Cancer are supported by the «Consejería de Sanidad» of the «Junta de Castilla y León». Among their shared objectives are (i) to carry out an early diagnosis among people with a medical record that could suggest hereditary transmission. In those cases there can be no existing clinical indication of suffering from cancer but they can show high probability of developing one at any time in their lives or be carriers of a certain genetic mutation currently known to be involved in the development of hereditary tumors, (ii) chooses families at a considerable risk of suffering from hereditary cancer by means of defining the genetic mutations implicated in each case and (iii) finally, offers genetic counseling to the affected individuals.
The Laboratory collaborates closely also with professionals from other hospitals in order to assist and monitor patients by means of offering their service to hospitals and professionals in any part of Spain. In the laboratories of the Cancer Genetic Units of CIC-IBMCC genetic and cytogenetic studies are being carried out.
The work procedures of the Laboratory of Hereditary Cancer of CIC-IBMCC in coordination with the Genetic Counseling Unit of the Clinical Oncology Department include: 1) Evaluation of a personal and family record of cancer, 2) Evaluation of the risk and choosing the most appropriate genetic study taking characteristics of the family into account and 3) Collecting biological samples necessary to carry out one or more different genetic studies. The Genetic Counseling Unit of the Clinical Oncology Department offers Genetic counseling, planning a family research depending on the results obtained from the genetic testing and recommendations of how to reduce the risk, and in case of already existing one, recommending the clinical monitoring of patients.
Even though the programs that currently have the highest level of development, at the Laboratory of Hereditary Cancer are mainly focused to the detection of the mutations of the hereditary breast and ovarian familial cancer and colorectal cancer, the laboratory analyze any syndrome of a hereditary cancer should undergo genetic study.