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Special Issue "Aberrations of DNA Repair Pathways in Prostate Cancer 2.0"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: 31 May 2023 | Viewed by 582

Special Issue Editor

1. Faculty of Life Sciences & Medicine, School of Cancer & Pharmaceutical Sciences, King's College London, London SE1 9RT, UK
2. Medway NHS Foundation Trust, Windmill Road, Gillingham, Kent ME7 5NY, UK
3. Kent Medway Medical School, University of Kent, CT2 7LX, Canterbury, Kent, UK
4. AELIA Organization, 9(th)Km Thessaloniki-Thermi, 57001 Thessaloniki, Greece
Interests: ovarian cancer; cervical cancer; carcinoma of unknown primary; prostate cancer, renal cancer, colorectal cancer; cancer in pregnancy
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Special Issue Information

Dear Colleagues,

Prostate cancer is the second most common neoplasm in men worldwide and the second leading cause of cancer deaths in Western countries. Due to the large-scale sequencing efforts, there is a better understanding of the genomic landscape of prostate cancer. Within this context, recurrent somatic mutations, copy number alterations, and oncogenic structural DNA rearrangements have been identified. These include point mutations in SPOP, FOXA1, and TP53; copy number alterations involving MYC, RB1, PTEN, and CHD1; and E26 transformation-specific (ETS) fusions. Data on mechanisms of DNA repair and experimental evidence still represent an urgent need. The identification of genomic defects in DNA repair has already led to clinical studies that provide a strong rationale for developing poly (ADP-ribose) polymerase (PARP) inhibitors and DNA-damaging agents in this molecularly defined subset of patients.

Carriers of BRCA2 pathogenic sequence variants (PSVs) have increased levels of serum prostate specific antigen (PSA) at diagnosis, increased proportion of high Gleason tumors, elevated rates of nodal and distant metastases, and a high recurrence rate. BRCA2 PSVs confer lower overall survival. The association of BRCA1 and prostate cancer has not been replicated in all studies. The National Comprehensive Cancer Network guidelines recommend that BRCA2 carriers should begin PSA screening at 45 years of age, while BRCA1 carriers should be advised to consider it. The IMPACT study evaluated a tailored prostate cancer screening in men with BRCA1/2 germline mutation and proposed annual PSA tests and a prostate biopsy if PSA >3 ng/mL.

In this editorial, we highlight the biology of deleterious inherited or acquired DNA repair pathway aberrations in prostate cancer. The manuscripts should be focused on but are not only limited to:

  • Prostate risk assessment in the era of next-generation sequencing;
  • Prognostic biomarkers in metastatic castration-resistant prostate cancer;
  • Molecular signatures in prostate cancer;
  • Aberrations of DNA repair pathways in prostate cancer;
  • Germline genetic variants in prostate cancer;
  • PARP inhibitors in prostate cancer;
  • Targeting androgen receptor activity in prostate cancer;
  • Resistance to androgen receptor targeting therapies in prostate cancer;
  • Anti-angiogenesis in prostate cancer.

Dr. Stergios Boussios
Guest Editor

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.


  • prostate cancer
  • cancer screening
  • tumor microenvironment
  • molecular pathogenesis
  • biomarkers
  • liquid biopsies
  • PSA
  • androgens
  • androgen receptor
  • castration resistance
  • precision medicine

Published Papers (1 paper)

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From Biology to Diagnosis and Treatment: The Ariadne’s Thread in Cancer of Unknown Primary
Int. J. Mol. Sci. 2023, 24(6), 5588; https://doi.org/10.3390/ijms24065588 - 15 Mar 2023
Viewed by 415
Cancer of unknown primary (CUP) encloses a group of heterogeneous tumours, the primary sites for which cannot be identified at the time of diagnosis, despite extensive investigations. CUP has always posed major challenges both in its diagnosis and management, leading to the hypothesis [...] Read more.
Cancer of unknown primary (CUP) encloses a group of heterogeneous tumours, the primary sites for which cannot be identified at the time of diagnosis, despite extensive investigations. CUP has always posed major challenges both in its diagnosis and management, leading to the hypothesis that it is rather a distinct entity with specific genetic and phenotypic aberrations, considering the regression or dormancy of the primary tumour; the development of early, uncommon systemic metastases; and the resistance to therapy. Patients with CUP account for 1–3% of all human malignancies and can be categorised into two prognostic subsets according to their clinicopathologic characteristics at presentation. The diagnosis of CUP mainly depends on the standard evaluation comprising a thorough medical history; complete physical examination; histopathologic morphology and algorithmic immunohistochemistry assessment; and CT scan of the chest, abdomen, and pelvis. However, physicians and patients do not fare well with these criteria and often perform additional time-consuming evaluations to identify the primary tumour site to guide treatment decisions. The development of molecularly guided diagnostic strategies has emerged to complement traditional procedures but has been disappointing thus far. In this review, we present the latest data on CUP regarding the biology, molecular profiling, classification, diagnostic workup, and treatment. Full article
(This article belongs to the Special Issue Aberrations of DNA Repair Pathways in Prostate Cancer 2.0)
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