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Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
  1. Tamar Paperna1,
  2. Nitzan Sharon-Shwartzman1,
  3. Alina Kurolap1,2,
  4. Yael Goldberg3,
  5. Nivin Moustafa1,
  6. Yariv Carasso4,
  7. Miora Feinstien3,
  8. Adi Mory1,
  9. Gili Reznick-Levi1,
  10. Claudia Gonzaga-Jauregui5,
  11. Alan R Shuldiner5,
  12. Lina Basel-Salmon3,6,7,8,
  13. Yishai Ofran2,4,
  14. Elizabeth E Half2,9,
  15. Hagit Baris Feldman1,2
  1. 1The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
  2. 2The Ruth and Bruce Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel
  3. 3Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, Petah Tikva, Israel
  4. 4Department of Haematology and Bone Marrow Transplantation, Rambam Health Care Campus, Haifa, Israel
  5. 5Regeneron Genetics Center, Tarrytown, New York, USA
  6. 6Pediatric Genetics Clinic, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
  7. 7Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  8. 8Felsenstein Medical Research Cente, Rabin Medical Center, Petach Tikva, Israel
  9. 9Department of Gastroenterology, Rambam Health Care Campus, Haifa, Israel
  1. Correspondence to Dr Hagit Baris Feldman, The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; hb_feldman{at}rambam.health.gov.il

Footnotes

  • TP, NS-S and AK contributed equally.

  • Contributors The first three authors (TP, NS-S and AK) contributed equally to this work. TP, NS-S and AK collected patient data and summarized clinical and genetic findings. TP, AK, CG-J, AM and ARS participated in genetic analyses, bioinformatics and data interpretation. NS-S, YG, YC, MF, GR-L, YO and EEH followed and treated the patients. NM and LB-S performed the karyotype analyses and interpreted karyotyping results. LB-S performed the chromosomal microarray analysis. TP, NS-S, AK and HBF drafted the manuscript. All coauthors critically reviewed the manuscript and approved the final submitted version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Ethics approval The Helsinki Ethics Committee of Rambam Health Care Campus.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement All data regarding this study is available upon request.

  • Patient consent for publication Obtained.

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Footnotes

  • TP, NS-S and AK contributed equally.

  • Contributors The first three authors (TP, NS-S and AK) contributed equally to this work. TP, NS-S and AK collected patient data and summarized clinical and genetic findings. TP, AK, CG-J, AM and ARS participated in genetic analyses, bioinformatics and data interpretation. NS-S, YG, YC, MF, GR-L, YO and EEH followed and treated the patients. NM and LB-S performed the karyotype analyses and interpreted karyotyping results. LB-S performed the chromosomal microarray analysis. TP, NS-S, AK and HBF drafted the manuscript. All coauthors critically reviewed the manuscript and approved the final submitted version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Ethics approval The Helsinki Ethics Committee of Rambam Health Care Campus.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement All data regarding this study is available upon request.

  • Patient consent for publication Obtained.

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