Clinical implications of germline mutations in breast cancer genes: RECQL

ConclusionsRECQL plays an important role in DNA repair, and is a plausible candidate breast cancer susceptibility gene. Initial studies showed evidence of an association between variants in this gene and an increased breast cancer risk in three separate populations, and identified founder mutations with significantly increased odds ratios. However, several subsequent studies have failed to support the association. With the limited and conflicting evidence available, there remains debate as to whether there is an increased breast cancer risk in individuals carryingRECQL loss of function variants. Further studies are required to better quantify the risks associated withRECQL variants and the current evidence base is not sufficient to justify routine inclusion ofRECQL on breast cancer gene panels in clinical use. Management of patients in whomRECQL variants have been identified should be based on clinician assessment, in the context of the family history. Further studies are required to better quantify the risks toRECQL mutation carriers and may also guide management and potential therapeutic targeting for patients.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research