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Detection of a novel mutation in exon 20 of the BRCA1 gene

  • The Erratum to this article has been published in Cellular & Molecular Biology Letters 2014 19:184


Hereditary breast cancer constitutes 5–10% of all breast cancer cases. Inherited mutations in the BRCA1 and BRCA2 tumor-suppressor genes account for the majority of hereditary breast cancer cases. The BRCA1 C-terminal region (BRCT) has a functional duplicated globular domain, which helps with DNA damage repair and cell cycle checkpoint protein control. More than 100 distinct BRCA1 missense variants with structural and functional effects have been documented within the BRCT domain. Interpreting the results of mutation screening of tumor-suppressor genes that can have high-risk susceptibility mutations is increasingly important in clinical practice. This study includes a novel mutation, p.His1746 Pro (c.5237A>C), which was found in BRCA1 exon 20 of a breast cancer patient. In silico analysis suggests that this mutation could alter the stability and orientation of the BRCT domain and the differential binding of the BACH1 substrate.



BRCA1-associated C-terminal helicase


Breast Cancer Information Core


breast cancer gene one


BRCA 1 C-terminal domain


free energy change


Human Gene Mutation Database


Human Genome Variation Society


Mendelian Inheritance in Man


National Center for Biotechnology Information


ovarian cancer


root mean-square deviation


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Correspondence to Jayasri Basak.

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Chakraborty, A., Katarkar, A., Chaudhuri, K. et al. Detection of a novel mutation in exon 20 of the BRCA1 gene. Cell Mol Biol Lett 18, 631–638 (2013).

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Key words

  • Breast cancer
  • BRCA1
  • BRCT repeat
  • BACH1
  • Cancer predisposition
  • DNA sequencing
  • Docking
  • Exon 20
  • In silico analysis
  • Missense mutation