title: Detection of a novel mutation in exon 20 of the BRCA1 gene.
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.
authors.affiliation: Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), Kolkata, India.
authors.forename: Abhijit
authors.initials: A
authors.lastname: Chakraborty
authors.forename: Atul
authors.initials: A
authors.lastname: Katarkar
authors.forename: Keya
authors.initials: K
authors.lastname: Chaudhuri
authors.forename: Ashis
authors.initials: A
authors.lastname: Mukhopadhyay
authors.forename: Jayasri
authors.initials: J
authors.lastname: Basak
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019313:BRCA1 Protein / Q000737:chemistry / Q000235:genetics*; D050976:Basic-Leucine Zipper Transcription Factors / Q000378:metabolism; D001943:Breast Neoplasms / Q000235:genetics*; D005091:Exons; D051856:Fanconi Anemia Complementation Group Proteins / Q000378:metabolism; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D008875:Middle Aged; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D011485:Protein Binding; D017434:Protein Structure, Tertiary
chemical_list: C102108:BACH1 protein, human; D019313:BRCA1 Protein; D050976:Basic-Leucine Zipper Transcription Factors; D051856:Fanconi Anemia Complementation Group Proteins