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Featured Review: Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

New Content ItemThe promising expectations about personalized medicine have opened the path to routine large-scale sequencing and increased the importance of genetic counseling for hereditary cancers, among which hereditary breast and ovary cancers (HBOC) have a major impact. High-throughput sequencing, or Next-Generation Sequencing (NGS), has improved cancer patient management, ameliorating diagnosis and treatment decisions. In addition to its undeniable clinical utility, NGS is also unveiling a large number of variants that we are still not able to clearly define and classify, the variants of uncertain significance (VUS), which account for about 40% of total variants. At present, VUS use in the clinical context is challenging. Medical reports may omit this kind of data and, even when included, they limit the clinical utility of genetic information. This has prompted the scientific community to seek easily applicable tests to accurately classify VUS and increase the amount of usable information from NGS data. 

In this review, Federici & Soddu focus on NGS and classification systems for VUS investigation, with particular attention on HBOC-related genes and in vitro functional tests developed for ameliorating and accelerating variant classification in cancer.

Click here to access all of the reviews published to date in Journal of Experimental & Clinical Cancer Research.

Aims and scope

Journal of Experimental & Clinical Cancer Research is an online peer-reviewed journal that provides a high-quality forum for all aspects of basic, clinical and translational work in oncology.

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Mauro Castelli, Regina Elena National Cancer Institute, Italy

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Call for Papers: Drugging cancer vulnerabilities toward innovative clinical trials

Drugging smallJournal of Experimental & Clinical Cancer Research is delighted to announce the new thematic series covering the actual knowledge of novel strategies on anticancer treatments.

The Special Issue will accept Research Articles and Reviews regarding the latest highlights on Drugging cancer vulnerabilities toward innovative clinical trials. Submit here.

  • Submission opens: 1st April 2021
  • Submission deadline: 31st December 2021

Click here to view this collection. Click here to access all thematic series published to date in Journal of Experimental & Clinical Cancer Research.

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Recognising Editorial Excellence

SN Editorial Excellence badgeJournal of Experimental & Clinical Cancer Research is a top rated Springer Nature journal. Prof. Mauro Castelli and the editorial team performed in the top percentile of journals based on data collected from the Journal Author Satisfaction Survey. We are recognising extraordinary editors for their commitment and passion to their journals. Read more about editorial excellence here.

Impact of COVID-19 on journal operations

COVID-19As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.

We are trying our best to work through this crisis as efficiently and effectively as possible and thank you for your support and patience during these challenging times.

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Celebrating the 10th anniversary partnership with BMC

JECCR 10 years​​​​​​​2018 marks the 10th anniversary of the partnership between the Journal of Experimental & Clinical Cancer Research and BMC.

Over the past decade, the journal has established itself among some of the top Oncology titles in Journal Citation Reports. Click here to look back at some of the journal’s milestone achievements and best content from the past 10 years.

Reviewer Acknowledgement and New Recruitment

The Editor-in-Chief of Journal of Experimental & Clinical Cancer Research would like to thank all of our reviewers who have contributed to the journal and is looking for new reviewers to assess manuscripts. For consideration, please send your CV with keywords and expertise to

Archival content

Journal of Experimental & Clinical Cancer Research has been publishing since 1982.  Prior to publishing with BioMed Central from 2008, Journal of Experimental & Clinical Cancer Research was published in print.  For enquiries about previous content, please contact us on:

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