DOI QR코드

DOI QR Code

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

  • Jiyeon Kim (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Joonsang Yu (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Seunghoo Lee (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Sollip Kim (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • In-Seob Lee (Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Woochang Lee (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Sail Chun (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine)
  • Received : 2023.04.15
  • Accepted : 2023.09.12
  • Published : 2024.03.01

Abstract

Keywords

References

  1. National Cancer Control Institute. National Cancer Registration Program, Annual report of cancer statistics in Korea in 2020. http://www.ncc.re.kr (Updated on Dec 2022).
  2. Nemtsova MV, Kalinkin AI, Kuznetsova EB, Bure IV, Alekseeva EA, Bykov II, et al. Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing. Sci Rep 2020;10:504. https://doi.org/10.1038/s41598-020-57544-3
  3. van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet 2015;52:361-74. https://doi.org/10.1136/jmedgenet-2015-103094
  4. Lee SH, Princz LN, Klügel MF, Habermann B, Pfander B, Biertümpfel C. Human Holliday junction resolvase GEN1 uses a chromodomain for efficient DNA recognition and cleavage. Elife 2015;4:e12256. https://doi.org/10.7554/eLife.12256
  5. Lix and Heyer WD. Homologous recombination in DNA repair and DNA damage tolerance. Cell Res 2008;18:99-113. https://doi.org/10.1038/cr.2008.1
  6. Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, et al. Mutation and association analysis of GEN1 in breast cancer susceptibility. Breast Cancer Res Treat 2010;124:283-8. https://doi.org/10.1007/s10549-010-0949-1
  7. Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med 2016;375:443-53. https://doi.org/10.1056/NEJMoa1603144
  8. WHO Classification of Tumours Editorial Board. WHO Classification of Tumors: Digestive System Tumours. 5th ed. Lyon, France: International Agency for Research on Cancer; 2019.
  9. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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 2015;17:405-24. https://doi.org/10.1038/gim.2015.30
  10. Gu H, Hong J, Lee W, Kim SB, Chun S, Min WK. RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance (SDHD c.314+3A>T) in Splicing Site Consensus Sequences. Ann Lab Med 2022;42:376-9. https://doi.org/10.3343/alm.2022.42.3.376