SMARCAL1 is a new osteosarcoma predisposition gene.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of the National Cancer Institute"
DOI: 10.1093/jnci/djaf278
Abstract: Osteosarcoma, the most common childhood bone tumor, can occur in rare cancer predisposition syndromes; however, most cases are sporadic with no known predisposing factors. We investigated the frequency of SMARCAL1 putative pathogenic variants in our… read more here.
Keywords: smarcal1 new; predisposition gene; osteosarcoma predisposition; pathogenic variants ... See more keywords
Identification of APP As a Novel Candidate Familial Eosinophilia Predisposition Gene
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-117495
Abstract: Eosinophilia, such as familial eosinophilia (FE), idiopathic eosinophilia and reactive eosinophilia, is characterized by a sustained overproduction of peripheral blood eosinophils with or without end-organ damage. Germline variants in cytokine and eosinophil function genes are… read more here.
Keywords: eosinophilia; familial eosinophilia; analysis; predisposition gene ... See more keywords