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Front Oncol. 2019 Jun 14;9:493. doi: 10.3389/fonc.2019.00493. eCollection 2019.

A Splice Site Variant of .

Frontiers in oncology

Natalia V Bogdanova, Peter Schürmann, Yana Valova, Natalia Dubrowinskaja, Nurzhan Turmanov, Tatyana Yugay, Zura Essimsiitova, Elvira Mingazheva, Darya Prokofyeva, Marina Bermisheva, Elza Khusnutdinova, Thilo Dörk

Affiliations

  1. Gynaecology Research Unit, Hannover Medical School, Hanover, Germany.
  2. Radiation Oncology Research Unit, Hannover Medical School, Hanover, Germany.
  3. Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russia.
  4. Department of Clinical Immunology, Hannover Medical School, Hanover, Germany.
  5. Oncology Clinic of Almaty, Almaty, Kazakhstan.
  6. Department of Biology and Biotechnology, Kazakh State National University of Al-Farabi, Almaty, Kazakhstan.
  7. Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.

PMID: 31259151 PMCID: PMC6587039 DOI: 10.3389/fonc.2019.00493

Abstract

CDK12 is a member of the cyclin-dependent kinase family that acts as regulator of DNA damage response gene expression. A c.1047-2A>G splice site variant of the

Keywords: DNA double-strand break repair; breast carcinoma; chromosome breakage syndrome; founder mutation; genetic susceptibility

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