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BRCA-mutated gastric adenocarcinomas are associated with chromosomal instability and responsiveness to platinum-based chemotherapy

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Abstract
Background: Homologous recombination defect is an important biomarker of chemotherapy in certain tumor types, and the presence of pathogenic or likely pathogenic mutations involving BRCA1 or BRCA2 (p-BRCA) mutations is the most well-established marker for the homologous recombination defect. Gastric cancer, one of the most prevalent tumor types in Asia, also harbors p-BRCA mutations.

Methods: To investigate the clinical significance of p-BRCA mutations, we analyzed 366 gastric cancer cases through next-generation sequencing. We determined the zygosity of p-BRCA mutations based on the calculated tumor purity through variant allelic fraction patterns and investigated whether the presence of p-BRCA mutations is associated with platinum-based chemotherapy and a certain molecular subtype.

Results: Biallelic p-BRCA mutation was associated with better response to platinum-based chemotherapy than heterozygous p-BRCA mutation or wild type BRCA genes. The biallelic p-BRCA mutations was observed only in the chromosomal instability subtype, while all p-BRCA mutations were heterozygous in microsatellite instability subtype.

Conclusions: In conclusion, patients with gastric cancer harboring biallelic p-BRCA mutations were associated with a good initial response to platinum-based chemotherapy and those tumors were exclusively chromosomal instability subtype. Further investigation for potential association with homologous recombination defect is warranted.
Author(s)
Ji Hyun OhChang Ohk SungHyung-Don KimSung-Min ChunJihun Kim
Issued Date
2023
Type
Article
Keyword
Chromosomal instabilityGastric neoplasmsGenes, BRCA2Homologous recombinationPoly(ADP-ribose) polymerase inhibitors
DOI
10.4132/jptm.2023.10.22
URI
https://oak.ulsan.ac.kr/handle/2021.oak/16781
Publisher
Journal of Pathology and Translational Medicine
Language
영어
ISSN
2383-7837
Citation Volume
57
Citation Number
6
Citation Start Page
323
Citation End Page
331
Appears in Collections:
Medicine > Nursing
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