Pruebas genéticas para detectar el cáncer colorrectal hereditario
El Grupo de trabajo EGAPP descubrió evidencias científicas sólidas para recomendar que a todas las personas que reciban un diagnóstico nuevo de cáncer colorrectal (sin importar la edad o antecedentes familiares) se les realicen una prueba genética para detectar el síndrome de Lynch.
Síndrome de Lynch
Aproximadamente el 3% de los casos de cáncer colorrectal se origina en una afección hereditaria conocida como el síndrome de Lynch (en ocasiones llamado cáncer colorrectal hereditario no asociado a poliposis o HNPCC). Las personas con esta afección tienen una mayor probabilidad de cáncer colorrectal, especialmente a una edad temprana (antes de los 50 años). Los hijos y hermanos de las personas con síndrome de Lynch tienen el 50% de probabilidades de heredar esta afección. Los padres y otros familiares consanguíneos como abuelos, tíos y sobrinos también tienen mayor riesgo de padecer el síndrome de Lynch.
Pruebas genéticas para detectar el síndrome de Lynch
Las pruebas genéticas se utilizan para descubrir si el cáncer colorrectal de una persona es hereditario (causado por un cambio de genes hereditario) y saber si los miembros de la familia también tienen un riesgo mayor de padecerlo. Esto podría ayudarlos a protegerse contra la enfermedad. Hay varias estrategias de pruebas genéticas para el síndrome de Lynch, como las pruebas de detección en muestras de tejidos de tumor o pruebas diagnósticas de ADN en muestras de tejidos no cancerosos.
El Grupo de Trabajo para la Evaluación de Aplicaciones Genómicas en la Práctica y la Prevención (EGAPP™) (en inglés) descubrió evidencias científicas sólidas que demuestran que si pruebas genéticas a personas con cáncer colorrectal revelan que estas padecen del síndrome de Lynch, sus familiares pueden beneficiarse:
- si se someten a pruebas genéticas para conocer si también tienen mayor riesgo de padecer la enfermedad.
- si se realizan exámenes en una fase temprana y con mayor frecuencia, lo que puede prevenir el cáncer colorrectal si el examen arroja un resultado positivo al cambio genético.
Sin embargo, no había suficiente evidencia para especificar la estrategia de pruebas genéticas que sería más eficaz.
El Grupo de trabajo EGAPP llegó a la conclusión de que todas las personas que reciben un diagnóstico reciente de cáncer colorrectal deben recibir asesoramiento y materiales educativos sobre las pruebas genéticas para detectar el síndrome de Lynch. Conozca más (en inglés).
Escuche un nuevo podcast sobre las pruebas genéticas para detectar el síndrome de Lynch (en inglés).
El Grupo de Trabajo EGAPP™ es un panel independiente y multidisciplinario de científicos y expertos en cuidados de salud que revisan las investigaciones y la evidencia disponibles para hacer recomendaciones sobre el uso de pruebas genéticas.
Have You or a Family Member Had Colorectal (Colon) Cancer? | Features | CDC
Have You or a Family Member Had Colorectal (Colon) Cancer?
Having a family health history of colorectal (colon) cancer can make you more likely to get colorectal cancer yourself. If you have close family members with colorectal cancer, collect your family health history of colorectal and other cancers, and share this information with your doctor. If you have had colorectal cancer, make sure that your family members know about your diagnosis, especially if you have Lynch syndrome.
Why is it Important to Know Your Family Health History?
If you have a family health history of colorectal cancer, your doctor may consider your family health history when deciding which colorectal cancer screening might be right for you. For example, if you have a close family member who had colorectal cancer at a young age or have multiple close family members with colorectal cancer, your doctor may recommend screening starting at a younger age, being done more frequently, and using colonoscopy only instead of other tests. In some cases, your doctor may recommend that you have genetic counseling, and a genetic counselor may recommend genetic testing based on your family health history.
When collecting your family health history, be sure to include your close relatives: parents, brothers, sisters, children, grandparents, aunts, uncles, nieces, and nephews. List any cancers that each relative had and at what age he or she was diagnosed. For relatives who have died, list age and cause of death.
What is Lynch Syndrome and Why is it Important to Know if You Have it?
In some cases, colorectal cancer is caused by an inherited genetic condition called Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer or HNPCC. About 3% (1 in 30) of colorectal cancer cases are due to Lynch syndrome. People with Lynch syndrome are much more likely to develop colorectal cancer, especially at a younger age (before 50), and women with Lynch syndrome are much more likely to get endometrial (uterine) cancer. People with Lynch syndrome also have an increased chance of getting other cancers, including ovarian, stomach, liver, kidney, brain, and skin cancer. If you or your family members are found to have Lynch syndrome, your doctor can help you take steps to reduce your risk of getting cancer in the future or to find it early if you get it.
Lynch syndrome is hereditary, meaning that it is caused by an inherited genetic changes, or mutations, that can be passed from parents to children. If you are diagnosed with Lynch syndrome, your parents, children, sisters, and brothers have a 50% (1 in 2) chance of having this condition. Your other close relatives are also at increased risk of having Lynch syndrome.
After surgery to remove colorectal cancer, tumor tissue samples are often screened to see if the tumor could have been caused by Lynch syndrome. In some cases, additional testing is needed to know for sure if the tumor was caused by Lynch syndrome. If you have had colorectal cancer in the last few years, your tumor may have been checked for Lynch syndrome. Genetic counseling and testing for Lynch syndrome also might be recommended for you if:
- You were diagnosed with colorectal cancer in the past
- You have been diagnosed with endometrial cancer (especially before age 50)
- You have several family members with colorectal or other cancers associated with Lynch syndrome
- You have a family member with Lynch syndrome
If you have been diagnosed with Lynch syndrome, talk to your doctor about your increased chances of getting the other cancers caused by Lynch syndrome. Be sure to let your family members know if you have Lynch syndrome. Once a mutation that causes Lynch syndrome is found in one person in a family, other family members can then be tested for that mutation to find out if they have Lynch syndrome.
More Information
If you are concerned about your personal or family health history of colorectal cancer, talk to your health care provider. In addition, you can visit the web sites below to find information on colorectal cancer, Lynch syndrome, cancer genetic testing, and genetic counseling services.
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