Loading...
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer
Demidova, Elena V. Lesh, Randy W. Hoang, Lily Richardson, Marcy Kessler, Lisa Speare, Virginia
Demidova, Elena V.
Lesh, Randy W.
Hoang, Lily
Richardson, Marcy
Kessler, Lisa
Speare, Virginia
Citations
Altmetric:
Genre
Journal article
Date
2020-08-11
Advisor
Committee member
Department
Cancer and Cellular Biology
Permanent link to this record
Collections
Research Projects
Organizational Units
Journal Issue
DOI
http://dx.doi.org/10.1038/s41598-020-70449-5
Abstract
Pathogenic variants (PVs) in multiple genes are known to increase the risk of early-onset renal cancer (eoRC). However, many eoRC patients lack PVs in RC-specific genes; thus, their genetic risk remains undefined. Here, we determine if PVs in DNA damage response and repair (DDRR) genes are enriched in eoRC patients undergoing cancer risk assessment. Retrospective review of de-identified results from 844 eoRC patients, undergoing testing with a multi-gene panel, for a variety of indications, by Ambry Genetics. PVs in cancer-risk genes were identified in 12.8% of patients—with 3.7% in RC-specific, and 8.55% in DDRR genes. DDRR gene PVs were most commonly identified in CHEK2, BRCA1, BRCA2, and ATM. Among the 2.1% of patients with a BRCA1 or BRCA2 PV, < 50% reported a personal history of hereditary breast or ovarian-associated cancer. No association between age of RC diagnosis and prevalence of PVs in RC-specific or DDRR genes was observed. Additionally, 57.9% patients reported at least one additional cancer; breast cancer being the most common (40.1% of females, 2.5% of males). Multi-gene testing including DDRR genes may provide a more comprehensive risk assessment in eoRC patients. Further validation is needed to characterize the association with eoRC.
Description
Citation
Hartman TR, Demidova EV, Lesh RW, Hoang L, Richardson M, Forman AF, et al. Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer. Sci Rep. 2020 Aug 11;10(13518). doi:10.1038/s41598-020-70449-5.
Citation to related work
Nature Research
Has part
Scientific Reports, Vol. 10
ADA compliance
For Americans with Disabilities Act (ADA) accommodation, including help with reading this content, please contact scholarshare@temple.edu