본문 바로가기
KERD
논문KCI 등재

RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G)

2

조회

0

다운로드

1

인용

0

참고문헌

주제분류병리학

참고문헌 (10)

  1. "National Cancer Registration Program, Annual report of cancer statistics in Korea in 2018" (2021)[URL]
  2. Wu Y, "A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer", Prostate, 78, pp.607~615 (2018)
  3. de Bono J, "Olaparib for metastatic castration-resistant prostate cancer", N Engl J Med, 382, pp.2091~2102 (2020)
  4. Delimitsou A, "Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system", Hum Mutat, 40, pp.631~648 (2019)
  5. Cybulski C, "CHEK2 is a multiorgan cancer susceptibility gene", Am J Hum Genet, 75, pp.1131~1135 (2004)
  6. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  7. Jian X, "In silico prediction of splice-altering single nucleotide variants in the human genome", Nucleic Acids Res, 42, pp.13534~13544 (2014)
  8. Brnich SE, "Recommendations for application of the functional evidence PS3", BS3 criterion using the ACMG, Genome Med, pp.2019, 12[DOI]
  9. Stolarova L, "CHEK2 germline variants in cancer predisposition : stalemate rather than checkmate", Cells, 9, pp.2675~ (2020)
  10. Anna A, "Splicing mutations in human genetic disorders: examples, detection, and confirmation", J Appl Genet, 59, pp.253~268 (2018)

관련 논문AI추천

Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA SequencingAram Kim, Hyun-Ki Kim, Jeong-Sik Byeon, Sail Chun, Seok-Byung Lim, Sunyoung Ahn, Won-Ki Min, Woochang Lee, Yong Sang Hong대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제4호RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance ( SDHD c.314+3A>T) in Splicing Site Consensus SequencesChun Sail, Gu Hyunjung, Hong Jinyoung, Kim Sung-Bae, Lee Woochang, Min Won-Ki대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제3호Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional StudyAnikó Bozsik, Attila Patócs, Edit Oláh, Henriett Butz, János Papp, Vince Kornél Grolmusz대한암학회 · Cancer Research and Treatment2022 · 제54권 제4호A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting김종원, Kim Na-Kyoung대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제2호Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening김명신, 김용구, 박준홍, 장우리, 채효진, Hyun Young Chi대한진단검사의학회 · Annals of Laboratory Medicine2016 · 제36권 제2호Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome김명신, Eunhee Han, Gun Dong Lee, Hyojin Chae, Jaeeun Yoo, Jee Hae Kim, Seung Nam Lee, Yonggoo Kim대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제2호

이 간행물의 다른 논문 (15건)