Special Issue "Cancer Genetics"


A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Clinical Genomics in Genetic Diseases and Cancer".

Deadline for manuscript submissions: closed (1 July 2016)

Special Issue Editor

Guest Editor
Dr. Nora L. Nock

Division of Genetic and Molecular Epidemiology, Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Road, Cleveland OH 44106-7281, USA
Website | E-Mail
Fax: +1 216 368 4880
Interests: genetic and molecular epidemiology; multivariate modeling; biochemical pathway modeling; gene expression; carcinogenesis; metabolic disorders

Special Issue Information

Dear Colleagues,

For this special issue, we would like to invite submissions in the form of a review or with new findings, which discusses one or more of the following approaches that you incorporate to discovering and/or validating genetic markers in carcinogenesis:

-  genomewide association studies
-  candidate gene association studies
-  sequencing
-  miRNAs
-  epigenetics/DNA methylation
-  transcription profiling
-  systems biology

We would like for you to discuss how the technology and/or methods you utilize can be manipulated to better understand the ‘cancer genome’ and comment on how these technologies and/or methodologies may help towards achieving “personalized cancer treatment”. With your help, this Special Edition will undoubtedly be a great resource for current and future cancer researchers!

We look forward to reading your contributions,

Dr. Nora L. Nock
Guest Editor


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. Papers will be published continuously (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 refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes 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 800 CHF (Swiss Francs).

Published Papers (1 paper)

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Open AccessArticle Methylation Analysis of DNA Mismatch Repair Genes Using DNA Derived from the Peripheral Blood of Patients with Endometrial Cancer: Epimutation in Endometrial Carcinogenesis
Genes 2016, 7(10), 86; doi:10.3390/genes7100086
Received: 7 July 2016 / Revised: 28 August 2016 / Accepted: 6 October 2016 / Published: 14 October 2016
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Germline mutation of DNA mismatch repair (MMR) genes is a cause of Lynch syndrome. Methylation of MutL homolog 1 (MLH1) and MutS homolog 2 (MSH2) has been detected in peripheral blood cells of patients with colorectal cancer. This methylation
[...] Read more.
Germline mutation of DNA mismatch repair (MMR) genes is a cause of Lynch syndrome. Methylation of MutL homolog 1 (MLH1) and MutS homolog 2 (MSH2) has been detected in peripheral blood cells of patients with colorectal cancer. This methylation is referred to as epimutation. Methylation of these genes has not been studied in an unselected series of endometrial cancer cases. Therefore, we examined methylation of MLH1, MSH2, and MSH6 promoter regions of peripheral blood cells in 206 patients with endometrial cancer using a methylation-specific polymerase chain reaction (MSP). Germline mutation of MMR genes, microsatellite instability (MSI), and immunohistochemistry (IHC) were also analyzed in each case with epimutation. MLH1 epimutation was detected in a single patient out of a total of 206 (0.49%)—1 out of 58 (1.72%) with an onset age of less than 50 years. The patient with MLH1 epimutation showed high level MSI (MSI-H), loss of MLH1 expression and had developed endometrial cancer at 46 years old, complicated with colorectal cancer. No case had epimutation of MSH2 or MSH6. The MLH1 epimutation detected in a patient with endometrial cancer may be a cause of endometrial carcinogenesis. This result indicates that it is important to check epimutation in patients with endometrial cancer without a germline mutation of MMR genes. Full article
(This article belongs to the Special Issue Cancer Genetics)

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