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Get Free AccessCancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specific to mesenchymal cancers, we performed whole-genome germline sequencing on 1644 sporadic cases and 3205 matched healthy elderly controls. Using an extreme phenotype design, a combined rare-variant burden and ontologic analysis identified two sarcoma-specific pathways involved in mitotic and telomere functions. Variants in centrosome genes are linked to malignant peripheral nerve sheath and gastrointestinal stromal tumors, whereas heritable defects in the shelterin complex link susceptibility to sarcoma, melanoma, and thyroid cancers. These studies indicate a specific role for heritable defects in mitotic and telomere biology in risk of sarcomas.
Mandy L. Ballinger, Swetansu Pattnaik, Piyushkumar A. Mundra, Milita Zaheed, Emma M. Rath, Peter Priestley, Jonathan Baber, Isabelle Ray‐Coquard, Nicholas Isambert, Sylvain Causeret, Winette T.A. van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, C.R. Chandrasekar, Joshua D. Schiffman, Andrew S. Brohl, Paul A. James, Jean‐Emmanuel Kurtz, Nicolas Penel, Ola Myklebost, Leonardo A. Meza‐Zepeda, Hilda A. Pickett, Maya Kansara, Nicola Waddell, Olga Kondrashova, John V. Pearson, Andrew P. Barbour, Shuai Li, Tuong L. Nguyen, Diane Fatkin, Robert M. Graham, Eleni Giannoulatou, Melissa J. Green, Warren Kaplan, Shyamsundar Ravishankar, Joseph Copty, Joseph E. Powell, Edwin Cuppen, Kristel van Eijk, Jan H. Veldink, Jin‐Hee Ahn, Jeong Eun Kim, R. Lor Randall, Kathy Tucker, Ian Judson, Rajiv Sarin, Thomas Ludwig, Emmanuelle Génin, Jean‐François Deleuze, Michelle Haber, Glenn M. Marshall, Murray J. Cairns, Jean Yves Blay (2023). Heritable defects in telomere and mitotic function selectively predispose to sarcomas. , 379(6629), DOI: https://doi.org/10.1126/science.abj4784.
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Type
Article
Year
2023
Authors
55
Datasets
0
Total Files
0
Language
en
DOI
https://doi.org/10.1126/science.abj4784
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