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Journals
Current Oncology
Special Issues
Next Gen Sequencing: Clinical Molecular Genetics Findings
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Next Gen Sequencing: Clinical Molecular Genetics Findings

A special issue of Current Oncology (ISSN 1718-7729).

Deadline for manuscript submissions: closed (31 December 2021) | Viewed by 7520

Special Issue Editors

Dr. Leora Witkowski

E-Mail Website
Guest Editor
Clinical Molecular Diagnostics Laboratory, McGill University Health Centre, Montréal, QC H4A 3J1, Canada
Interests: clinical molecular testing in hereditary and sporadic cancer
Dr. Gardenia Vargas-Parra

E-Mail Website
Guest Editor
Translational Research Laboratory, Bellvitge Biomedical Research Institute, 08908 Barcelona, Spain
Interests: molecular diagnosis of hereditary cancer
Dr. Giovana Tardin Torrezan

E-Mail Website
Guest Editor
Genomic and Molecular Biology Group, A.C.Camargo Cancer Center, Sao Paulo 01509-900, Brazil
Interests: genomics in hereditary and sporadic cancer

Special Issue Information

Dear Colleagues,

Genetic testing in oncology is increasing in the clinic at a rapid pace, with thousands of clinical tests being conducted each year. Results from this testing can have serious impacts on the health of patients and their families, as well as health systems. Proper analytical pipelines, including precise variant calling and classification, are crucial for accurate interpretation of genetic testing results. Interpretation of these findings relies on both large databases as well as case findings, including those published in the literature as well as from internal-lab-generated data; therefore, sharing and publishing results from molecular testing is crucial.  

This Special Issue aims to add to the current body of literature on clinical molecular findings in order to improve analytical processes, share interesting findings, and aid with the interpretation of genetic results to be able to provide the best services possible for patients. In this Special Issue, original research articles, case reports, case series, and reviews are welcome. Research areas may include (but are not limited to) the following: the development of molecular cancer testing, clinical aspects of genetic testing in cancer, or results from clinical molecular testing of the germline and/or tumors in either hereditary or sporadic cancers.

We look forward to receiving your contributions.

Dr. Leora Witkowski
Dr. Gardenia Vargas-Parra
Dr. Giovana Tardin Torrezan
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 submissions that pass pre-check are 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. Current Oncology 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.

Keywords

  • cancer
  • genetic testing
  • molecular
  • sporadic
  • hereditary
  • NGS
  • DNA variants
  • interpretation

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Published Papers (2 papers)

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12 pages, 6967 KiB  
Case Report
Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition
by Maria Fernanda Evangelista Simões, Alexandre André Balieiro Anastácio da Costa, Tullio Novaes Silva, Lizieux Fernandes, Graziele Bovolim, Giovana Tardin Torrezan, Dirce Maria Carraro, Glauco Baiocchi, Ademir Narcizo Oliveira Menezes, Elizabeth Santana Dos Santos and Louise De Brot
Curr. Oncol. 2022, 29(2), 411-422; https://doi.org/10.3390/curroncol29020037 - 18 Jan 2022
Cited by 10 | Viewed by 4657
Abstract
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman [...] Read more.
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding with a highly aggressive biological behavior. The patient had a somatic SMARCB1 mutation instead of an expected SMARCA4 alteration. Even though the patient was treated with high-dose chemotherapy followed by stem cell transplantation, she evolved with disease progression and died 11 months after her first symptoms appeared. We present a literature review of this rare disease and discuss the findings in the present patient in comparison to expected molecular alterations and options for SCCOHT treatment. Full article
(This article belongs to the Special Issue Next Gen Sequencing: Clinical Molecular Genetics Findings)
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13 pages, 1207 KiB  
Case Report
Multitumor Case Series of Germline BRCA1, BRCA2 and CHEK2-Mutated Patients Responding Favorably on Immune Checkpoint Inhibitors
by Lisa Kinget, Oliver Bechter, Kevin Punie, Philip R. Debruyne, Hilde Brems, Paul Clement, Eduard Roussel, Yannick Van Herck, Maarten Albersen, Marcella Baldewijns, Patrick Schöffski and Benoit Beuselinck
Curr. Oncol. 2021, 28(5), 3227-3239; https://doi.org/10.3390/curroncol28050280 - 24 Aug 2021
Cited by 2 | Viewed by 2325
Abstract
In recent years, immune checkpoint inhibitors (ICPI) have become widely used for multiple solid malignancies. Reliable predictive biomarkers for selection of patients who would benefit most are lacking. Several tumor types with somatic or germline alterations in genes involved in the DNA damage [...] Read more.
In recent years, immune checkpoint inhibitors (ICPI) have become widely used for multiple solid malignancies. Reliable predictive biomarkers for selection of patients who would benefit most are lacking. Several tumor types with somatic or germline alterations in genes involved in the DNA damage response (DDR) pathway harbor a higher tumor mutational burden, possibly associated with an increased tumoral neoantigen load. These neoantigens are thought to lead to stronger immune activation and enhanced response to ICPIs. We present a series of seven patients with different malignancies with germline disease-associated variants in DDR genes (BRCA1, BRCA2, CHEK2) responding favorably to ICPIs. Full article
(This article belongs to the Special Issue Next Gen Sequencing: Clinical Molecular Genetics Findings)
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