Sequence Variants in Breast/Ovarian Cancer Susceptibility Genes: From Risk Assessment to Clinical Management in Carrier Individuals and Their Blood Relatives
A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Epidemiology and Prevention".
Deadline for manuscript submissions: 31 December 2024 | Viewed by 1209
Special Issue Editors
Interests: hereditary breast/ovarian cancer; BRCA1 and BRCA2 genes; variant classification and reporting; variants of uncertain significance; molecular mechanisms of carcinogenesis; sporadic breast cancer
Interests: hereditary breast/ovarian cancer; ATM; BARD1; BRCA1; BRCA2; BRIP1; CHEK2; PALB2; RAD51C; RAD51D; alternative splicing in control populations and variant carriers; ACMG/AMP classification of genetic variants
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Genetic testing for breast/ovarian cancer susceptibility plays a crucial role in personalized medicine. The BRCA1 and BRCA2 genes stand as a model for variant-associated cancer risk assessment and management. The implementation of massively parallel sequencing in cancer genetics has increased the amount of information that needs to be deciphered prior to potential clinical use. The elucidation of the biological and clinical significance of sequence variants—a prerequisite for effective cancer prevention and treatment—can be challenging for certain genes and variant types, thus limiting the clinical value of test results. Transnational collaborative efforts, the collection of multi-layered evidence, and ad hoc in depth analyses are often required to achieve variant classification, which, in turn, informs clinical decision-making.
This Special Issue aims to advance our knowledge of both basic and clinically relevant aspects pertaining to the assessment and management of the cancer risk associated with sequence variants in breast/ovarian cancer susceptibility genes. We welcome original articles and reviews covering a broad spectrum of research topics, including the following:
- High- and moderate-risk gene variants and the clinical management of carrier individuals and their non-carrier blood relatives;
- Other cancer phenotypes associated with (likely) pathogenic variants in breast/ovarian cancer susceptibility genes;
- Uses of PRS for risk refinement (real-world studies on models integrating multiple risk factors are encouraged);
- Evidence supporting variant classification, e.g., segregation analyses, functional studies, or the characterization of splice-site variants (multifactorial analyses are especially welcome);
- Molecular mechanisms of response/resistance to platinum and PARP inhibitors;
- Preventive and therapeutic (surgical and medical) options for carrier individuals.
Dr. Arcangela De Nicolo
Dr. Miguel De la Hoya
Guest Editors
Manuscript Submission Information
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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.
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Keywords
- breast/ovarian cancer susceptibility genes
- risk assessment and clinical management of carrier individuals and their blood relatives
- risk models
- variant classification
- multifactorial approaches
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