지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술대회자료
- 저자정보
- 발행연도
- 2021.6
- 수록면
- 199 - 199 (1page)
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Background/Aims
The associated predisposition genes or prevalence of the pathogenic variants genes in multiple primary cancers (MPC) patients are often unknown. The genomic similarity-dissimilarity have been rarely evaluated in tumors from an individual.
Methods
We screened 71 patients with MPC of the stomach, colorectal, and endometrium, sequencing 65 cancer predisposition genes. A subset of 19 patients with early-onset MPC of stomach and colorectum were further evaluated using both normal (germline, n=19) and tumor (somatic, n=37) including whole exome sequencing.
Results
Among 71 patients with MPCs, variants predicted to be pathogenic were observed in 15 (21.1%) patients and affected Lynch Syndrome (LS) genes: MLH1 (n=10), MSH6 (n=2), PMS2 (n=2), and MSH2 (n=1). All carriers had tumors with high microsatellite instability and 13 of them (86.7%) were early-onset, ... 전체 초록 보기
The associated predisposition genes or prevalence of the pathogenic variants genes in multiple primary cancers (MPC) patients are often unknown. The genomic similarity-dissimilarity have been rarely evaluated in tumors from an individual.
Methods
We screened 71 patients with MPC of the stomach, colorectal, and endometrium, sequencing 65 cancer predisposition genes. A subset of 19 patients with early-onset MPC of stomach and colorectum were further evaluated using both normal (germline, n=19) and tumor (somatic, n=37) including whole exome sequencing.
Results
Among 71 patients with MPCs, variants predicted to be pathogenic were observed in 15 (21.1%) patients and affected Lynch Syndrome (LS) genes: MLH1 (n=10), MSH6 (n=2), PMS2 (n=2), and MSH2 (n=1). All carriers had tumors with high microsatellite instability and 13 of them (86.7%) were early-onset, ... 전체 초록 보기
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UCI(KEPA) : I410-ECN-0101-2021-514-001919703