Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
Airat BilyalovSergey NikolaevLeila ShigapovaIgor KhatkovAnastasia DanishevichLudmila ZhukovaSergei SmolinMarina TitovaTatyana LisicaNatalia BodunovaElena I ShagimardanovaOleg GusevPublished in: Biology (2022)
Multigene panel testing allows for a differential diagnosis and identification of high-risk group for oncological diseases. Our results demonstrate that inclusion of non-coding gene regions into HCPS gene panels is highly important for the identification of rare spliceogenic variants with high penetrance.