According to the latest clinical data, a single pre-genome test is more effective for Lynch syndrome in patients with colorectal cancer (CRC) than traditional multiple sequential testing methods. The researchers say that providing such advanced genetic testing at the time of diagnosis can help guide and speed up treatment decisions for many CRC patients, and at the same time confirm the diagnosis of patients who may have Lynch syndrome (prone to cancer). When a mutation occurs in one of the DNA repair genes of a person, a carcinogenic situation occurs. People with Lynch syndrome are more likely to suffer from CRC, rakovina maternice, ovarian cancer, stomach cancer, or other cancers than the general population.
For this study, the researchers wanted to know whether a single test to screen multiple mutations for early-stage nádor sequencing can replace the multiple detection methods currently used to determine whether patients have Lynch syndrome. To this end, the researchers analyzed tumor samples from 419 CRC patients. All study participants analyzed tumor samples using the traditional multiple test genetic test method and a single pre-genome tumor sequencing test. Among them, a single tumor sample analyzed multiple mutation.
Vedci porovnali výsledky dvoch skríningových metód a zistili, že skoršia metóda sekvenovania nádorov je citlivejšia ako starý model viacnásobnej detekcie a dokáže konkrétnejšie zistiť Lynchov syndróm. Predstupňové sekvenovanie nádoru zvýšilo mieru detekcie Lynchovho syndrómu o 10% a tiež poskytlo pacientom dôležité informácie o možnostiach liečby.
Past testing methods will only indicate suspicion of Lynch syndrome, but without multiple additional tests, the diagnosis cannot be confirmed, which will slow down the diagnosis process and increase costs. This new method points out the exact mutation at birth of the patient, and only requires a single test, using blood testing, which is cheaper than a multi-gene test kit. Previous methods sometimes required patients to perform five separate tests before knowing if they had Lynch syndrome.
Táto nová metóda môže výrazne znížiť efektívnosť nákladov, môže presne určiť výsledky testov a zabrániť mnohým vysoko rizikovým pacientom v progresii k rakovine.
