The Functional Impact of DNA Repair Gene Variants in Breast and Ovarian Cancer
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 2585
Special Issue Editor
Interests: homologous recombination; yeast functional assays; genome wide screening; cancer genetics; BRCA1 variant classification
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Germline mutations in the DNA double strand break (DSB) and Mismatch repair genes have been reported to increase lifetime risk of developing hereditary breast and/or ovarian cancer (HBOC). With new sequencing technologies, numerous variants of uncertain significance (VUS) are identified. It is mandatory to develop new tools to evaluate the functional impact of VUS and its pathogenicity. Cancer-causing mutations in the coding sequence of these genes are expected to impair the protein’s biological activity; precisely, a protein-truncating mutation is more likely to be pathogenic as compared to missense variants that need to be studied in “reliable” functional assays in order to establish their pathogenicity. For instance, the pleiotropic nature of these proteins and the presence of several domains complicates the interpretation of functional data because it is not established which of its functions are important for tumor suppression. The availability of functional assays could be of great help in the assessment of cancer risk and can contribute to understanding the mechanism of tumorigenesis. In addition, the biological validity of a functional assay should be assessed by determining to what extent the assay relies on a natural function of the protein, and how this particular function contributes to tumor suppression. While we have strong evidence that functions interrogated in the assays are bona fide functions of these proteins, evidence that a certain function is required or even contributory to its tumor suppression activity has been difficult to demonstrate. The Special Issue “The Functional Impact of DNA Repair Gene Variants in Breast and Ovarian Cancer” will provide a new platform aiming to collect original articles and reviews that will contribute to elucidating the mechanism of tumorigenesis through molecular and genetic studies. Original studies evaluating the functional impact of variants in DSB repair genes at the molecular level and contributing to identifying new functional interactors will be accepted.
Dr. Alvaro Galli
Guest Editor
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Keywords
- tumor suppressors
- breast and ovarian cancer
- cancer-associated variants
- DNA double strand break repair
- mismatch repair
- functional assays
