Supplementary Material for: Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer
2017-05-16T12:11:12Z (GMT) by
<i>Background:</i> The MRN complex consisting of MRE11A-RAD50-NBS1 proteins is involved in the repair of double-strand breaks, and mutations in genes coding for the MRN complex have been identified in families with breast and ovarian cancer. <i>Case Report:</i> In a <i>BRCA-</i>negative family with positive history of breast and endometrial cancer, next-generation sequencing-based panel testing identified a mutation in the <i>MRE11A</i> gene (NM_005590 c.1090C>T: p.Arg364Ter). This mutation results in a shorter mutated protein lacking 2 DNA binding domains (the GAR domain and the RAD50 binding site), abolishing the function of protein. <i>Conclusion:</i> This case provides insight into the role of the <i>MRE11A</i> gene in causing breast cancer susceptibility in families, and supports the use of multigene panel testing in cases with hereditary predisposition to breast cancer.