Article
SMARCAL1 is a new osteosarcoma predisposition gene.
Journal of the National Cancer Institute - 1 Jun 2026
Rafati Maryam, Guenther Lillian M, Egolf Laura E, Gianferante Matthew, Kim Jung, Wang Kevin, Zhu Bin, Spector Logan G, Anderson Nathan, Janeway Katherine A, Barkauskas Donald A, Hawkins Douglas S, Patiño-Garcia Ana, Lupo Philip J, Scheurer Michael E, Morton Lindsay, Armstrong Gregory T, Sapkota Yadav, Gramatges M Monica, Serra Massimo, Hattinger Claudia, Scotlandi Katia, Andrulis Irene L, Wunder Jay S, Ballinger Mandy L, Thomas David M, Yeager Meredith, Dean Michael, Stewart Douglas R, Vogt Aurelie, Liu Jia, Hicks Belynda D, Huang Wen-Yi, Landi Maria Teresa, Lori Adriana, Diver W Ryan, Savage Sharon A, Chanock Stephen J, Mirabello Lisa
Abstract excerpt
Osteosarcoma, the most common childhood bone tumor, can occur in rare cancer predisposition syndromes; however, most are sporadic with no known predisposing factors. We investigated the frequency of SMARCAL1 putative pathogenic variants in our large ongoing study of 2119 osteosarcoma patients, their relation to patient characteristics, and the population prevalence. Our analysis uncovered a higher frequency of...
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