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Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)

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참고문헌 (10)

  1. "National Cancer Registration Program, Annual report of cancer statistics in Korea in 2020" (2022)[URL]
  2. Nemtsova MV, "Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing", Sci Rep, 10, pp.504~ (2020)
  3. van der Post RS, "Hereditary diffuse gastric cancer : updated clinical guidelines with an emphasis on germline CDH1 mutation carriers", J Med Genet, 52, pp.361~374 (2015)
  4. Lee SH, "Human Holliday junction resolvase GEN1 uses a chromodomain for efficient DNA recognition and cleavage", Elife, 4, pp.e12256~ (2015)
  5. Li X, "Homologous recombination in DNA repair and DNA damage tolerance", Cell Res, 18, pp.99~113 (2008)
  6. Turnbull C, "Mutation and association analysis of GEN1 in breast cancer susceptibility", Breast Cancer Res Treat, 124, pp.283~288 (2010)
  7. Pritchard CC, "Inherited DNA-repair gene mutations in men with metastatic prostate cancer", N Engl J Med, 375, pp.443~453 (2016)
  8. WHO Classification of Tumours Editorial Board, "WHO Classification of Tumors: Digestive System Tumours" (2019), International Agency for Research on Cancer
  9. 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)
  10. Gu H, "RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance (SDHD c.314+3A>T) in Splicing Site Consensus Sequences", Ann Lab Med, 42, pp.376~379 (2022)

관련 논문AI추천

A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting김종원, Kim Na-Kyoung대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제2호RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G)이재련, 전사일, Gu Hyunjung, Hong Jinyoung, Lee Woochang, Min Won-Ki, Na Rae대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제3호RNA 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 제3호Identification 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 제4호Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa강경은, 기창석, 김형태, 장자현, 정혜원대한진단검사의학회 · Laboratory Medicine Online2018 · 제8권 제2호Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome권아림, 김명신, 김성준, 김용구, 신석준, 윤혜은, 이승옥, 채효진, 제갈동욱대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호

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