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• W4387142208 abstract "<h3>Introduction/Background</h3> Comprehensive cancer genome profiling (CGP) evaluation is recommended at least in academic centres for the identification of actionable somatic mutations in a selected subgroup of cancers. Somatic variants could have a germline correlation. Here, we report the possible genetic implications of a CGP programme in ovarian (OC) and endometrial cancers (EC). <h3>Methodology</h3> In this monocentric interventional prospective study (ID FPG500, IRB approval 3837), all cancer patients with indication for any molecular assessment were profiled through a CGP (523 genes, TSO500HT, Illumina). Each case was reviewed by a geneticist for the identification of suspected germline variants (both variants related to cancer susceptibility and other actionable genetic conditions). In this abstract, we report data regarding OC and EC. <h3>Results</h3> From January 2022 to December 2022, 244 EC and 445 OC underwent CGP. 222 (32%) patients were referred to genetic counselling (25% of EC and 36% of OC) for suspected germline variants in 32 and 42 genes, respectively. As expected, for EC, the most common suspected germline variants were mismatch repair genes (MLH1, MSH2, MSH6; 19 variants). For OC, the majority of patients (61%) were referred to geneticist for BRCA1/2 germline evaluation. Data on germinal confirmation are available for 73/222 (33%). 30% and 64% of EC and OC somatic variants were confirmed being of germinal origin, respectively. Interestingly, 3/5 (60%) of EC and 10/36 (28%) of OC confirmed germline variants are in cancer predisposing genes other than Lynch syndrome (MUTYH, LZTR1, BRIP1) and BRCA1/2 genes (MLH1, MSH2, BRIP1, RAD51C, RAD51D, ATM, CHEK2, FANCC, ERCC2), respectively. <h3>Conclusion</h3> Beside therapeutic and prognostic implications, CGP can identify variants related to hereditary cancer predisposition conditions allowing cascade prevention and identification of affected relatives. Moreover, a CGP could improve the identification of mild predisposing cancer genes, not detected based on current tumor type recommendations. <h3>Disclosures</h3> The authors declare no disclosures." @default.
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• W4387142208 date "2023-09-01" @default.
• W4387142208 modified "2023-10-18" @default.
• W4387142208 title "#818 Genetic implications of a comprehensive cancer genome profiling programme in a monoinstitutional study: focus on gynecological cancers" @default.
• W4387142208 doi "https://doi.org/10.1136/ijgc-2023-esgo.860" @default.
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