Additional germline findings from a tumor profiling program
Posted on 2018-08-09 - 05:00
Abstract Background Matched tumor-normal sequencing, applied in precision cancer medicine, can identify unidentified germline Medically Actionable Variants (gMAVS) in cancer predisposition genes. We report patient preferences for the return of additional germline results, and describe various gMAV scenarios delivered through a clinical genetics service. Methods Tumor profiling was offered to 1960 advanced cancer patients, of which 1556 underwent tumor-normal sequencing with multigene hotspot panels containing 20 cancer predisposition genes. All patients were provided with an IRB-approved consent for return of additional gMAVs. Results Of the whole cohort 94% of patients consented to be informed of additional germline results and 5% declined, with no statistically significant differences based on age, sex, race or prior genetic testing. Eight patients were found to have gMAVs in a cancer predisposition gene. Five had previously unidentified gMAVs: three in TP53 (only one fulfilled Chompretâs Revised criteria for Li-Fraumeni Syndrome), one in SMARCB1 in the absence of schwannomatosis features and one a TP53 variant at low allele frequency suggesting an acquired event in blood. Conclusion Interest in germline findings is high among patients who undergo tumor profiling. Disclosure of previously unidentified gMAVs present multiple challenges, thus supporting the involvement of a clinical genetics service in all tumor profiling programs.
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Stjepanovic, Neda; Stockley, Tracy; Bedard, Philippe; McCuaig, Jeanna; Aronson, Melyssa; Holter, Spring; et al. (2018). Additional germline findings from a tumor profiling program. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.4194392.v1
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AUTHORS (18)
NS
Neda Stjepanovic
TS
Tracy Stockley
PB
Philippe Bedard
JM
Jeanna McCuaig
MA
Melyssa Aronson
SH
Spring Holter
KS
Kara Semotiuk
NL
Natasha Leighl
RJ
Raymond Jang
MK
Monika Krzyzanowska
AO
Amit Oza
AG
Abha Gupta
CE
Christine Elser
LA
Lailah Ahmed
LW
Lisa Wang
SK
Suzanne Kamel-Reid
LS
Lillian Siu
RK
Raymond Kim