Special Issue "Genetic Variants Associated with Breast and Ovarian Cancer Risk"
Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 25900
Interests: breast/ovarian cancer genes; variants of uncertain clinical significance; VUS; RNA splicing; aberrant splicing; alternative splicing; minigenes; atypical exons; splicing regulation
Interests: functional analysis of genetic variants; variants of uncertain clinical significance; hereditary breast and ovarian cancer; BRCA1; BRCA2; PALB2; RNA splicing; homologous recombination
Interests: BRCA1/2; PALB2; CHEK2; ATM; RAD51C/D; BRIP1; BARD1; RNA splicing; standarizing variants classification and reporting
Hereditary breast and ovarian cancer is a highly heterogeneous genetic disease with more than 20 known or proposed susceptibility genes. The advent of next-generation sequencing has opened up the opportunity for testing many breast and/or ovarian cancer genes and the detection of thousands of variants. However, a significant proportion of them are variants of unknown clinical significance (VUS) with an undefined cancer risk. The elucidation of their role in carcinogenesis will guide clinical management and thus contribute to cancer prevention and the development of tailored therapies. Variant classification has significantly improved through the research efforts of multidisciplinary international consortia (such as the Evidence-based Network for the Interpretation of Mutant Alleles (ENIGMA), or ClinGen Variant Curation Expert Panels) focused on developing and applying methods to identify and report clinically actionable variants in breast–ovarian cancer genes. Clinical and epidemiological data of patients in combination with functional studies addressing the impact on RNA splicing and protein function provide key information for the clinical interpretation of variants. We therefore welcome articles on the clinical interpretation of genetic variants (particularly VUS) in susceptibility genes via genetic, multifactorial approaches or their impact on protein function, RNA splicing or other gene-expression mechanisms. We will also consider reports on the mutation screening of multigene panel testing in important cohorts of breast/ovarian cancer patients. Articles developing gene specific ACMG standards and guidelines are also welcome.
Dr. Eladio A. Velasco
Dr. Maaike P. G. Vreeswijk
Dr. Miguel De la Hoya
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- breast/ovarian cancer susceptibility genes
- protein function
- RNA splicing
- multifactorial likelihood analysis
- multigene panel sequencing