Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes
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DOI: 10.1038/bjc.2017.286
Abstract: Background:Despite a high prevalence of deleterious missense variants, most studies of RAD51C ovarian cancer susceptibility gene only provide in silico pathogenicity predictions of missense changes. We identified a novel deleterious RAD51C missense variant (p.Arg312Trp) in… read more here.
Keywords: rad51c; missense changes; rad51c missense; missense ... See more keywords
Homologous recombination–deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants
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DOI: 10.1073/pnas.2202727119
Abstract: Significance The RAD51 paralog RAD51C is among the homologous recombination (HR) genes known to be tumor suppressors. As with many tumor suppressors, a large number of variants of unknown significance have been identified, impairing informed… read more here.
Keywords: rad51c; cluster; tumor; cancer ... See more keywords
Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.
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DOI: 10.1093/hmg/ddac281
Abstract: Monoallelic or biallelic RAD51C germline mutations results in chromosome instability disorders such as fanconi anemia (FA) and cancers. The bona fide function of RAD51C is to assist RAD51 nucleoprotein filament onto single strand DNA to… read more here.
Keywords: rad51c; replication; replication fork; fork protection ... See more keywords
Exceptional response to FOLFIRINOX in a patient with pancreatic cancer and a germline RAD51C mutation.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of gastrointestinal oncology"
DOI: 10.21037/jgo.2018.03.11
Abstract: Pancreatic cancer is projected to become the second leading cause of cancer death in the United States by 2030. Deleterious germline mutations can contribute to pancreatic cancer susceptibility. Herein we report a case of a… read more here.
Keywords: response; rad51c; pancreatic cancer; cancer ... See more keywords