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

Cellular & Molecular Biology Letters volume 18, pages 631–638 (2013)Cite this article

An Erratum to this article was published on 15 March 2014

Abstract

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.

Abbreviations

BACH1:

BRCA1-associated C-terminal helicase

BIC:

Breast Cancer Information Core

BRCA1:

breast cancer gene one

BRCT:

BRCA 1 C-terminal domain

DGG:

free energy change

HGMD:

Human Gene Mutation Database

HGVS:

Human Genome Variation Society

MIM:

Mendelian Inheritance in Man

NCBI:

National Center for Biotechnology Information

OC:

ovarian cancer

RMSD:

root mean-square deviation

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Authors and Affiliations

  1. Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), Kolkata, India

    Abhijit Chakraborty & Jayasri Basak

  2. Molecular & Human Genetics Division, Indian Institute of Chemical Biology (IICB), Kolkata, India

    Atul Katarkar & Keya Chaudhuri

  3. Department of Oncology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), Kolkata, India

    Ashis Mukhopadhyay

Authors
  1. Abhijit Chakraborty
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  2. Atul Katarkar
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  3. Keya Chaudhuri
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  4. Ashis Mukhopadhyay
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  5. Jayasri Basak
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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). https://doi.org/10.2478/s11658-013-0110-3

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  • DOI: https://doi.org/10.2478/s11658-013-0110-3

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Cellular & Molecular Biology Letters

ISSN: 1689-1392

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