Therapeutic applications of germline testing for cancer predisposition genes in Asia in the real world.
ESMO Open
; 9(6): 103482, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38833967
ABSTRACT
BACKGROUND:
Germline genetic testing is traditionally carried out in patients suspected with hereditary cancer syndrome for enhanced cancer surveillance and/or preventive strategies, but is increasingly carried out for therapeutic indications. MATERIALS ANDMETHODS:
We conducted a retrospective review of patients who underwent germline genetic testing at our centre to determine the prevalence of actionable pathogenic germline variants (PGV) and their clinical utility.RESULTS:
From 2000 to 2022, 1154 cancer patients underwent germline testing, with the majority (945/1154) tested with multi-gene panels. Four hundred and eleven (35.6%) patients harboured a PGV and 334 (81%) were clinically actionable. BRCA1/2 accounted for 62.3% of actionable mutations, followed by mismatch repair (18%), and other homologous recombination repair (HRR) genes (19.7%). One hundred and fifty-two germline-positive patients have advanced cancers, and 79 received germline-directed therapies (poly ADP ribose polymerase inhibitors = 75; immunotherapy = 4). Median duration of immunotherapy and poly ADP ribose polymerase were 20.5 months (range 5-40 months) and 8 months (range 1-76 months), respectively. Among BRCA/HRR mutation carriers who received platinum-based chemotherapy, pathological complete response rate in the neoadjuvant setting was 53% (n = 17 breast cancers) and objective response rate was >80% in the advanced setting (n = 71).CONCLUSIONS:
One-third of cancer patients tested carried a PGV and â¼80% were clinically actionable. Three-quarters of germline-positive advanced cancer patients received germline-directed therapies in the real world, underscoring the practical utility of germline testing to guide cancer therapeutics.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Testing
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Germ-Line Mutation
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Genetic Predisposition to Disease
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Neoplasms
Limits:
Adolescent
/
Adult
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Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
Country/Region as subject:
Asia
Language:
En
Journal:
ESMO Open
/
ESMO open
Year:
2024
Document type:
Article