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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2022.1
- 수록면
- 63 - 67 (5page)
- DOI
- 10.47429/lmo.2022.12.1.63
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초록· 키워드
오류제보하기
Liquid biopsy is a non-invasive method for tumor genotyping through detecting the circulating tumor DNA (ctDNA). Here, we describe the case of an esophageal squamous cell cancer patient in which a germline CDKN2A mutation was identified incidentally through liquid biopsy. The preoperative sample analysis revealed a total of five alterations in CDKN2A, TP53, FAT1, and KMT2C genes using next-generation sequencing data. The CDKN2A p.R87W was confirmed as a germline mutation, which is likely a pathogenic variant revealed through peripheral leukocyte DNA analysis. The patient underwent esophagectomy and sequential adjuvant chemoradiation therapy. After the surgery, the variant allele frequencies of somatic variants tended to decrease throughout the treatment. In addition to the detection of somatic variants, ctDNA testing can also provide information on the germline cancer susceptibility variants.
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