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Cancers
Special Issues
Genetic Markers and Cancer Risk
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Genetic Markers and Cancer Risk

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: closed (31 December 2020) | Viewed by 6812

Special Issue Editor

Dr. Michael Dean

E-Mail Website
Guest Editor
Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD 20877, USA
Interests: cancer genetics; cancer genomics; cervical cancer; global health

Special Issue Information

Dear Colleagues,

All types of cancers are influenced by the genetic background of the patient and population. The influence of genetic variants and mutations ranges from rare, highly penetrant mutations in cancer syndrome genes (TP53, VHL, BRCA1, BRCA2 and others) to common, low impact variants identified by genome-wide association study. Identification of genetic markers in cancer risk is an active area. For this Special Issue of Cancers, papers that identify risk variants, seek to understand their function, study the frequency in specific cancers, or specific populations, or that address new methods to identify variants will be considered.

Dr. Michael Dean
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 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 semimonthly 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 2900 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 susceptibility genes
  • cancer GWAS
  • germline mutation
  • mutation function
  • polygenic risk score

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Published Papers (2 papers)

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Research

19 pages, 2428 KiB  
Article
Genetic and Epigenetic Regulation of the Smoothened Gene (SMO) in Cancer Cells
by Hong Lou, Hongchuan Li, Andrew R. Huehn, Nadya I. Tarasova, Bahara Saleh, Stephen K. Anderson and Michael Dean
Cancers 2020, 12(8), 2219; https://doi.org/10.3390/cancers12082219 - 8 Aug 2020
Cited by 8 | Viewed by 2857
Abstract
(1) Background: The hedgehog (HH) signaling pathway is a key regulator of embryonic patterning, tissue regeneration, stem cell renewal, and cancer growth. The smoothened (SMO) protein regulates the HH signaling pathway and has demonstrated oncogenic activity. (2) Methods: To clarify the role of [...] Read more.
(1) Background: The hedgehog (HH) signaling pathway is a key regulator of embryonic patterning, tissue regeneration, stem cell renewal, and cancer growth. The smoothened (SMO) protein regulates the HH signaling pathway and has demonstrated oncogenic activity. (2) Methods: To clarify the role of the HH signaling pathway in tumorigenesis, the expression profile of key HH signaling molecules, including SMO, PTCH1, GLI1, GLI2, and GLI3, were determined in 33 cancer cell lines and normal prostate cells and tissues. We performed a computational analysis of the upstream region of the SMO gene to identify the regulatory elements. (3) Results: Three potential CpG islands and several putative SMO promoter elements were identified. Luciferase reporter assays mapped key SMO promoter elements, and functional binding sites for SP1, AP1, CREB, and AP-2α transcription factors in the core SMO promoter region were confirmed. A hypermethylated SMO promoter was identified in several cancer cell lines suggesting an important role for epigenetic silencing of SMO expression in certain cancer cells. (4) Discussion: These results have important implications for our understanding of regulatory mechanisms controlling HH pathway activity and the molecular basis of SMO gene function. Moreover, this study may prove valuable for future research aimed at producing therapeutic downregulation of SMO expression in cancer cells. Full article
(This article belongs to the Special Issue Genetic Markers and Cancer Risk)
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19 pages, 2919 KiB  
Article
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer
by Maisa Pinheiro, Fernanda Cristina Sulla Lupinacci, Karina Miranda Santiago, Sandra Aparecida Drigo, Fabio Albuquerque Marchi, Carlos Eduardo Fonseca-Alves, Sonia Cristina da Silva Andrade, Mads Malik Aagaard, Tatiane Ramos Basso, Mariana Bisarro dos Reis, Rolando André Rios Villacis, Martin Roffé, Glaucia Noeli Maroso Hajj, Igor Jurisica, Luiz Paulo Kowalski, Maria Isabel Achatz and Silvia Regina Rogatto
Cancers 2020, 12(5), 1289; https://doi.org/10.3390/cancers12051289 - 20 May 2020
Cited by 3 | Viewed by 3441
Abstract
Multiple primary thyroid cancer (TC) and breast cancer (BC) are commonly diagnosed, and the lifetime risk for these cancers is increased in patients with a positive family history of both TC and BC. Although this phenotype is partially explained by TP53 or PTEN [...] Read more.
Multiple primary thyroid cancer (TC) and breast cancer (BC) are commonly diagnosed, and the lifetime risk for these cancers is increased in patients with a positive family history of both TC and BC. Although this phenotype is partially explained by TP53 or PTEN mutations, a significant number of patients are negative for these alterations. We judiciously recruited patients diagnosed with BC and/or TC having a family history of these tumors and assessed their whole-exome sequencing. After variant prioritization, we selected MUS81 c.1292G>A (p.R431H) for further investigation. This variant was genotyped in a healthy population and sporadic BC/TC tissues and investigated at the protein level and cellular models. MUS81 c.1292G>A was the most frequent variant (25%) and the strongest candidate due to its function of double-strand break repair. This variant was confirmed in four relatives from two families. MUS81 p.R431H protein exhibited lower expression levels in tumors from patients positive for the germline variant, compared with wild-type BC, and normal breast and thyroid tissues. Using cell line models, we showed that c.1292G>A induced protein instability and affected DNA damage response. We suggest that MUS81 is a novel candidate involved in familial BC/TC based on its low frequency in healthy individuals and proven effect in protein stability. Full article
(This article belongs to the Special Issue Genetic Markers and Cancer Risk)
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