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Mikaeel RR, Young JP, Li Y, et al. RNF43 pathogenic Germline variant in a family with colorectal cancer. Clin Genet. 2021;101(1):122-126doi: 10.1111/cge.14064.
Mikaeel, R. R., Young, J. P., Li, Y., Poplawski, N. K., Smith, E., Horsnell, M., Uylaki, W., Tomita, Y., Townsend, A. R., Feng, J., Zibat, A., Kaulfuß, S., Müller, C., Yigit, G., Wollnik, B., Scott, H., Rawlings, L., Henry, D., Vakulin, C., Dubowsky, A., & Price, T. J. (2022). RNF43 pathogenic Germline variant in a family with colorectal cancer. Clinical genetics, 101(1), 122-126. https://doi.org/10.1111/cge.14064
Mikaeel, Reger R, et al. "RNF43 pathogenic Germline variant in a family with colorectal cancer." Clinical genetics vol. 101,1 (2022): 122-126. doi: https://doi.org/10.1111/cge.14064
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ. RNF43 pathogenic Germline variant in a family with colorectal cancer. Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27. PMID: 34541672.
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Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27.

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Clinical genetics

Reger R Mikaeel, Joanne P Young, Yun Li, Nicola K Poplawski, Eric Smith, Mehgan Horsnell, Wendy Uylaki, Yoko Tomita, Amanda R Townsend, Jinghua Feng, Arne Zibat, Silke Kaulfuß, Christian Müller, Gökhan Yigit, Bernd Wollnik, Hamish Scott, Lesley Rawlings, Denae Henry, Cassandra Vakulin, Andrew Dubowsky, Timothy J Price

Affiliations

  1. Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia.
  2. SAHMRI Colorectal Node, Basil Hetzel Institute, Woodville South, South Australia, Australia.
  3. Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.
  4. Biology Department, College of Science, University of Duhok, Duhok, Kurdistan, Iraq.
  5. Institute of Human Genetics, University Medical Center, Göttingen, Germany.
  6. Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
  7. Discipline of Paediatrics, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.
  8. Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, South Australia, Australia.
  9. ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia.
  10. Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany.
  11. Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  12. SA Pathology, Flinders Medical Centre, Adelaide, South Australia, Australia.

PMID: 34541672 DOI: 10.1111/cge.14064

Abstract

The role of RNF43 as a cause of an inherited predisposition to colorectal cancer (CRC) is yet to be fully explored. This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline variant in RNF43. The proband (III:1) and the proband's mother (II:2) were diagnosed with mismatch repair proficient CRCs at the age of 50 years and 65 years, respectively. Both patients had BRAF

© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Keywords: Colorectal cancer; Germline variant; RNA splicing; RNF43; Serrated polyposis

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