Special Issue "Genetic Variants Associated with Breast and Ovarian Cancer Risk"

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Informatics and Big Data".

Deadline for manuscript submissions: 30 November 2020.

Special Issue Editors

Dr. Eladio A. Velasco
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Guest Editor
Splicing and Genetic Susceptibility to Cancer. Instituto de Biología y Genética Molecular. Consejo Superior de Investigaciones Científicas. Valladolid, Spain
Interests: breast/ovarian cancer genes; variants of uncertain clinical significance; VUS; RNA splicing; aberrant splicing; alternative splicing; minigenes; atypical exons; splicing regulation
Dr. Maaike P. G. Vreeswijk

Guest Editor
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Interests: functional analysis of genetic variants; variants of uncertain clinical significance; hereditary breast and ovarian cancer; BRCA1; BRCA2; PALB2; RNA splicing; homologous recombination
Dr. Miguel De la Hoya
Guest Editor
Molecular Oncology Laboratory. Fundación Investigación Biomédica del Hospital Clínico San Carlos. Hospital Clínico San Carlos, Madrid, Spain
Interests: BRCA1/2; PALB2; CHEK2; ATM; RAD51C/D; BRIP1; BARD1; RNA splicing; standarizing variants classification and reporting

Special Issue Information

Dear Colleagues,

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
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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 monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • breast/ovarian cancer susceptibility genes
  • VUS
  • protein function
  • RNA splicing
  • multifactorial likelihood analysis
  • multigene panel sequencing

Published Papers (1 paper)

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Open AccessArticle
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer
Cancers 2020, 12(8), 2151; https://doi.org/10.3390/cancers12082151 - 03 Aug 2020
Cited by 1
In this study, we aim to gain insight in the germline mutation spectrum of ATM, BARD1, BRIP1, ERCC4, PALB2, RAD51C and RAD51D in breast and ovarian cancer families from Spain. We have selected 180 index cases in whom [...] Read more.
In this study, we aim to gain insight in the germline mutation spectrum of ATM, BARD1, BRIP1, ERCC4, PALB2, RAD51C and RAD51D in breast and ovarian cancer families from Spain. We have selected 180 index cases in whom a germline mutation in BRCA1 and BRCA2 was previously ruled out. The importance of disease-causing variants in these genes lies in the fact that they may have possible therapeutic implications according to clinical guidelines. All variants were assessed by combined annotation dependent depletion (CADD) for scoring their deleteriousness. In addition, we used the cancer genome interpreter to explore the implications of some variants in drug response. Finally, we compiled and evaluated the family history to assess whether carrying a pathogenic mutation was associated with age at diagnosis, tumour diversity of the pedigree and total number of cancer cases in the family. Eight unequivocal pathogenic mutations were found and another fourteen were prioritized as possible causal variants. Some of these molecular results could contribute to cancer diagnosis, treatment selection and prevention. We found a statistically significant association between tumour diversity in the family and carrying a variant with a high score predicting pathogenicity (p = 0.0003). Full article
(This article belongs to the Special Issue Genetic Variants Associated with Breast and Ovarian Cancer Risk)
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