Cancers are multifactorial diseases due to a combination of genetic and environmental factors. A small proportion, it is estimated that about 5% of all tumors, it has inherited. Hereditary cancers are the result of germline mutations in specific genes that increase susceptibility to cancer. This susceptibility is transmitted among family members according to different patterns of inheritance.susceptibility to cancer is inherited, it does not imply the certainty of developing it in all cases. In recent years we have identified approximately 94 genes involved in as many syndromes of hereditary predisposition to cancer and have developed techniques for their characterization of their mutations. Some of these syndromes and genes listed in the following Table .
Identifying families with possible hereditary cancers is important because its members can benefit from effective measures not only in early detection, but also in the prevention of tumors. In families with hereditary cancer is commonly observed several cases of cancer, usually of the same type that appear in one generation and the next, which occur at an early age (in the most common syndromes breast / ovarian and colorectal cancers, among 40 and 50), which when applied to paired organs can be observed bilateral forms (breast, kidney, etc). Are families that also appear individuals who have had more than one primary tumor, or cancer also exhibit developmental defects. When a doctor recognizes one or more of these signs in a family, you must derive a Familial Cancer Unit, or failing that, to a service or Clinical Genetics Clinical Oncology.
Genetic and hereditary diseases can turn to family circumstances has led to new responsibilities for the healthcare professional. The attention to families with hereditary cancer requires genetic counseling specialists who perform the individual risk assessment for each family member, and appropriate genetic determinations. Through genetic counseling patients with hereditary predisposition to cancer receive information on: 1) the probability of malignancy; 2) the probability of transmitting to their offspring's predisposition to cancer and the likelihood they have of developing these tumors; and 3) the prognosis, strategies in the face of early detection and the most appropriate therapeutic approach.
For the assessment of the personal and family implications of hereditary cancer and decision-making is very important that patients can receive psychological support. Knowing carrier status of an alteration in a gene for susceptibility to cancer, has a profound impact and it is not unusual to see significant emotional disorders that require psychological healthcare professionals.
Performing specific genetic testing is not possible in all cases, as there are entities in which the responsible gene has not yet known.The patient should be informed of what they genetic studies are best suited for you and what consequences would expect both positive and negative. Genetic studies should always perform them highly trained laboratory solvency. Keep in mind that not all techniques have the same level of resolution and interpretation of the results is often complex and, therefore, must make responsible personnel with extensive experience in the field of Genetics and Molecular Biology.
Another aspect of hereditary cancer that has great impact on families, is the tracking of individuals at risk. In clinical practice, today, there are three main tools for handling these situations: a) periodic medical surveillance; b) chemoprevention; c) prophylactic surgery. The most commonly used tool is the medical supervision, mainly in services Medical Oncology, Gynecology and Gastroenterology. There is consensus recommendations for the care of individuals with the most common cancer predisposition syndromes like cancer syndrome Hereditary Breast and Ovarian (HBOC), and Lynch syndromes Cowden, with familial adenomatous polyposis (FAP), Neoplasia Multiple endocrine or neurofibromatosis. Meanwhile, chemoprevention in most situations is still under investigation. Prophylactic surgery allows primary prevention and has application in PAF, HBOC and to a lesser extent Lynch syndrome.
When the genetic alteration responsible for cancer is not known in the family, everyone at risk (usually the first-degree relatives of those affected) are in close medical supervision. Knowing the family mutation is advantageous, since monitoring will be restricted to family members who were carriers of the alteration.
Identifying families with possible hereditary cancers is important because its members can benefit from effective measures not only in early detection, but also in the prevention of tumors. In families with hereditary cancer is commonly observed several cases of cancer, usually of the same type that appear in one generation and the next, which occur at an early age (in the most common syndromes breast / ovarian and colorectal cancers, among 40 and 50), which when applied to paired organs can be observed bilateral forms (breast, kidney, etc). Are families that also appear individuals who have had more than one primary tumor, or cancer also exhibit developmental defects. When a doctor recognizes one or more of these signs in a family, you must derive a Familial Cancer Unit, or failing that, to a service or Clinical Genetics Clinical Oncology.
Genetic and hereditary diseases can turn to family circumstances has led to new responsibilities for the healthcare professional. The attention to families with hereditary cancer requires genetic counseling specialists who perform the individual risk assessment for each family member, and appropriate genetic determinations. Through genetic counseling patients with hereditary predisposition to cancer receive information on: 1) the probability of malignancy; 2) the probability of transmitting to their offspring's predisposition to cancer and the likelihood they have of developing these tumors; and 3) the prognosis, strategies in the face of early detection and the most appropriate therapeutic approach.
For the assessment of the personal and family implications of hereditary cancer and decision-making is very important that patients can receive psychological support. Knowing carrier status of an alteration in a gene for susceptibility to cancer, has a profound impact and it is not unusual to see significant emotional disorders that require psychological healthcare professionals.
Performing specific genetic testing is not possible in all cases, as there are entities in which the responsible gene has not yet known.The patient should be informed of what they genetic studies are best suited for you and what consequences would expect both positive and negative. Genetic studies should always perform them highly trained laboratory solvency. Keep in mind that not all techniques have the same level of resolution and interpretation of the results is often complex and, therefore, must make responsible personnel with extensive experience in the field of Genetics and Molecular Biology.
Another aspect of hereditary cancer that has great impact on families, is the tracking of individuals at risk. In clinical practice, today, there are three main tools for handling these situations: a) periodic medical surveillance; b) chemoprevention; c) prophylactic surgery. The most commonly used tool is the medical supervision, mainly in services Medical Oncology, Gynecology and Gastroenterology. There is consensus recommendations for the care of individuals with the most common cancer predisposition syndromes like cancer syndrome Hereditary Breast and Ovarian (HBOC), and Lynch syndromes Cowden, with familial adenomatous polyposis (FAP), Neoplasia Multiple endocrine or neurofibromatosis. Meanwhile, chemoprevention in most situations is still under investigation. Prophylactic surgery allows primary prevention and has application in PAF, HBOC and to a lesser extent Lynch syndrome.
When the genetic alteration responsible for cancer is not known in the family, everyone at risk (usually the first-degree relatives of those affected) are in close medical supervision. Knowing the family mutation is advantageous, since monitoring will be restricted to family members who were carriers of the alteration.
