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Cellular & Molecular Biology Letters

Open Access

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

  • Abhijit Chakraborty1,
  • Atul Katarkar2,
  • Keya Chaudhuri2,
  • Ashis Mukhopadhyay3 and
  • Jayasri Basak1Email author
Cellular & Molecular Biology LettersAn International Journal201318:110

Received: 26 July 2013

Accepted: 27 November 2013

Published: 2 December 2013

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.

Key words

Breast cancerBRCA1BRCT repeatBACH1Cancer predispositionDNA sequencingDockingExon 20 In silico analysisMissense mutation