Lisa Mirabello, Senior Principal Investigator at DCEG, National Cancer Institute, NIH, shared recent article she and her colleagues co-authored on LinkedIn, adding:
“I’m excited to share our new paper in the Journal of the National Cancer Institute that uncovered that pathogenic germline (inherited) variants in the SMARCAL1 gene predisposes individuals to osteosarcoma, the most common childhood bone tumor.
We found that carriers of these variants have a 33-fold increased risk of developing osteosarcoma. This expands our understanding of osteosarcoma etiology and has potential utility for early detection genetic testing in patients.
Thankful for this great team effort!.”
Title: SMARCAL1 is a new osteosarcoma predisposition gene.
Authors: Maryam Rafati, Lillian M. Guenther, Laura E. Egolf, D. Matthew Gianferante, Jung Kim, Kevin Wang, Bin Zhu, Logan G. Spector, Nathan Anderson, Katherine A. Janeway, Donald A. Barkauskas, Douglas S. Hawkins, Ana Patiño-Garcia, Philip J. Lupo, Michael E. Scheurer, Lindsay Morton, Gregory T. Armstrong, Yadav Sapkota, M. Monica Gramatges, Massimo Serra, Claudia Hattinger, Katia Scotlandi, Irene L. Andrulis, Jay S. Wunder, Mandy L. Ballinger, David M. Thomas, Meredith Yeager, Michael Dean, Douglas R. Stewart, Aurelie Vogt, Jia Liu, Belynda D. Hicks, Wen-Yi Huang, Maria Teresa Landi, Adriana Lori, W. Ryan Diver, Sharon A. Savage, Stephen J. Chanock, Lisa Mirabello.
Read the Full Article on Journal of National Cancer Institute.
Read more posts featuring NIH on OncoDaily.