Thread by @jakphd

Last in this #ASHG21 late breaking plenary session is Bailey Martin-Giacalone presenting on germline variants in cancer predisposition genes predict survival for children with rhabdomyosarcoma

#ASHG21 Martin-Giacalone: Want to look at germline (not somatic) variants associated with rhabdomyosarcoma (RMS ).

Exome-sequenced 615 RMS cases and 9963 adult controls.

#ASHG21 Martin-Giacalone: Examined 63 cancer predisposition genes. Found 7.3% RMS cases had variants (not sure what type??) compared to 1.5% of controls. TP53, NF1, HRAS had the largest excess.

#ASHG21 Martin-Giacalone: both subtypes of RMS had an enrichment of germline variants in these cancer predisposition genes.

Examined overall survival (OS) and event-free survival (EFS) of RMS cases.

#ASHG21 Martin-Giacalone: Wanted to examine overall survival (OS) and event-free survival (EFS) of RMS cases.

Found that RMS cases with germline variants in cancer genes had lower OS than those without (P<0.05). But not see this in EFS (P=0.09)

#ASHG21 Martin-Giacalone: found that hazard of death was greater for carriers of germline vairants in TP53 and HRAS, but not for NF1 or BRAC2

#ASHG21 Martin-Giacalone: Currently germline testing isn't done for RMS but they suggest that additional information can be gained by examining germline variation.

Got the questioned answered! The classes of germline variation they examined were missense, inframe indels, and pLoF variants