Germline study points to sarcoma pathways: Pathogenic variants related to mitosis and telomere integrity are enriched in sarcoma patients Editorial

  

Authors:	Mandelker, D.; Ladanyi, M.
Title:	Germline study points to sarcoma pathways: Pathogenic variants related to mitosis and telomere integrity are enriched in sarcoma patients
Abstract:	Germline cancer predisposition is an important cause of premature mortality. Traditionally, gene discovery in hereditary cancer involved either familial linkage analysis to segregate a variant in a family with several instances of the same cancer type, case-control studies for a limited number of genes or variants to establish relative risks, or genomewide association studies (GWASs) that look for the association of common variants to cancer development. On page 253 of this issue, Ballinger et al. (1) identify genes and pathways associated with sarcoma predisposition, based on a case-control study design using whole-genome sequencing (WGS) of 1644 individuals with sarcoma and 3205 matched controls without sarcoma paired with genetic ontology analysis. They found pathogenic germline variants in genes related to mitosis and telomere integrity in 44 sarcoma patients, representing a significant enrichment relative to controls and, more broadly, highlighting the importance of these processes to sarcomagenesis. © 2023 American Association for the Advancement of Science. All rights reserved.
Keywords:	genetics; mitosis; gene; cancer susceptibility; gene expression; germ cell; genetic variability; angiosarcoma; sarcoma; germ cells; genetic susceptibility; gene fusion; genome; li-fraumeni syndrome; heterozygosity loss; malignant fibrous histiocytoma; synovial sarcoma; germ-line mutation; soft tissue neoplasms; soft tissue tumor; penetrance; myxosarcoma; biological development; alveolar rhabdomyosarcoma; germline mutation; shelterin; telomere length; cell component; cancer; humans; human; article; whole genome sequencing; germline variant; premature mortality; protection of telomeres 1 gene
Journal Title:	Science
Volume:	379
Issue:	6629
ISSN:	0036-8075
Publisher:	American Association for the Advancement of Science
Date Published:	2023-01-20
Start Page:	238
End Page:	239
Language:	English
DOI:	10.1126/science.adf8572
PUBMED:	36656937
PROVIDER:	scopus
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85146592349&doi=10.1126%2fscience.adf8572&partnerID=40&md5=7a8e2b8e1e2541f15a928d2492f968bc
Notes:	Export Date: 1 March 2023 -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/203377